|
1
|
Brăila AD, Damian CM, Albu CC, Botoacă O, Dȋră LM, Albu ŞD, Brăila MG, Bănățeanu AM, Poalelungi CV, Bogdan-Andreescu CF. Prenatal Diagnosis of Cleft Lip and Palate: A Retrospective Study. J Clin Med 2024; 13:4804. [PMID: 39200946 PMCID: PMC11355850 DOI: 10.3390/jcm13164804] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/15/2024] [Revised: 08/11/2024] [Accepted: 08/12/2024] [Indexed: 09/02/2024] Open
Abstract
Cleft lip and/or palate are prevalent congenital anomalies. Early and accurate diagnosis allows proper case management. The Objective: This retrospective cohort study aimed to investigate the association between cleft lip and palate and other congenital anomalies. Methods: This study analyzed 17 pregnancies prenatally diagnosed with cleft lip and palate. The investigations consisted of ultrasound examination, fetal karyotyping through amniocentesis, and family tree analysis. In the presence of an abnormal fetal karyotype, the parental karyotype was also indicated. Results: Of the 17 cases identified, 9 (52.94%) were syndromic and 8 (47.06%) were non-syndromic. The genetic syndromes identified in association with cleft lip and palate in this study included translocation syndrome (one case), Patau syndrome, trisomy 13 (seven cases), and Edwards syndrome, mosaic trisomy 18 (one case). Conclusions: A comprehensive approach ensures a thorough assessment and accurate diagnosis. Early detection and a multidisciplinary approach allow appropriate case management.
Collapse
Affiliation(s)
- Anca Daniela Brăila
- Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania; (A.D.B.); (C.M.D.); (L.M.D.)
| | - Constantin Marian Damian
- Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania; (A.D.B.); (C.M.D.); (L.M.D.)
| | - Cristina-Crenguţa Albu
- Department of Genetics, Faculty of Dentistry, “Carol Davila” University of Medicine and Pharmacy, 020021 Bucharest, Romania
| | - Oana Botoacă
- Department of Speciality Disciplines, Faculty of Dental Medicine, “Titu Maiorescu” University, 031593 Bucharest, Romania; (A.-M.B.); (C.F.B.-A.)
| | - Laurențiu Mihai Dȋră
- Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania; (A.D.B.); (C.M.D.); (L.M.D.)
| | - Ştefan-Dimitrie Albu
- Department of Periodontology, Faculty of Dentistry, “Carol Davila” University of Medicine and Pharmacy, 020021 Bucharest, Romania;
| | - Matei Georgian Brăila
- Faculty of Medicine, “Carol Davila” University of Medicine and Pharmacy, 020021 Bucharest, Romania;
| | - Andreea-Mariana Bănățeanu
- Department of Speciality Disciplines, Faculty of Dental Medicine, “Titu Maiorescu” University, 031593 Bucharest, Romania; (A.-M.B.); (C.F.B.-A.)
| | - Cristian-Viorel Poalelungi
- Department of Obstetrics and Gynecology, Faculty of Medicine, “Carol Davila” University of Medicine and Pharmacy, 020021 Bucharest, Romania;
| | - Claudia Florina Bogdan-Andreescu
- Department of Speciality Disciplines, Faculty of Dental Medicine, “Titu Maiorescu” University, 031593 Bucharest, Romania; (A.-M.B.); (C.F.B.-A.)
| |
Collapse
|
|
2
|
Buijtendijk MF, Bet BB, Leeflang MM, Shah H, Reuvekamp T, Goring T, Docter D, Timmerman MG, Dawood Y, Lugthart MA, Berends B, Limpens J, Pajkrt E, van den Hoff MJ, de Bakker BS. Diagnostic accuracy of ultrasound screening for fetal structural abnormalities during the first and second trimester of pregnancy in low-risk and unselected populations. Cochrane Database Syst Rev 2024; 5:CD014715. [PMID: 38721874 PMCID: PMC11079979 DOI: 10.1002/14651858.cd014715.pub2] [Citation(s) in RCA: 6] [Impact Index Per Article: 6.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 05/12/2024]
Abstract
BACKGROUND Prenatal ultrasound is widely used to screen for structural anomalies before birth. While this is traditionally done in the second trimester, there is an increasing use of first-trimester ultrasound for early detection of lethal and certain severe structural anomalies. OBJECTIVES To evaluate the diagnostic accuracy of ultrasound in detecting fetal structural anomalies before 14 and 24 weeks' gestation in low-risk and unselected pregnant women and to compare the current two main prenatal screening approaches: a single second-trimester scan (single-stage screening) and a first- and second-trimester scan combined (two-stage screening) in terms of anomaly detection before 24 weeks' gestation. SEARCH METHODS We searched MEDLINE, EMBASE, Science Citation Index Expanded (Web of Science), Social Sciences Citation Index (Web of Science), Arts & Humanities Citation Index and Emerging Sources Citation Index (Web of Science) from 1 January 1997 to 22 July 2022. We limited our search to studies published after 1997 and excluded animal studies, reviews and case reports. No further restrictions were applied. We also screened reference lists and citing articles of each of the included studies. SELECTION CRITERIA Studies were eligible if they included low-risk or unselected pregnant women undergoing a first- and/or second-trimester fetal anomaly scan, conducted at 11 to 14 or 18 to 24 weeks' gestation, respectively. The reference standard was detection of anomalies at birth or postmortem. DATA COLLECTION AND ANALYSIS Two review authors independently undertook study selection, quality assessment (QUADAS-2), data extraction and evaluation of the certainty of evidence (GRADE approach). We used univariate random-effects logistic regression models for the meta-analysis of sensitivity and specificity. MAIN RESULTS Eighty-seven studies covering 7,057,859 fetuses (including 25,202 with structural anomalies) were included. No study was deemed low risk across all QUADAS-2 domains. Main methodological concerns included risk of bias in the reference standard domain and risk of partial verification. Applicability concerns were common in studies evaluating first-trimester scans and two-stage screening in terms of patient selection due to frequent recruitment from single tertiary centres without exclusion of referrals. We reported ultrasound accuracy for fetal structural anomalies overall, by severity, affected organ system and for 46 specific anomalies. Detection rates varied widely across categories, with the highest estimates of sensitivity for thoracic and abdominal wall anomalies and the lowest for gastrointestinal anomalies across all tests. The summary sensitivity of a first-trimester scan was 37.5% for detection of structural anomalies overall (95% confidence interval (CI) 31.1 to 44.3; low-certainty evidence) and 91.3% for lethal anomalies (95% CI 83.9 to 95.5; moderate-certainty evidence), with an overall specificity of 99.9% (95% CI 99.9 to 100; low-certainty evidence). Two-stage screening had a combined sensitivity of 83.8% (95% CI 74.7 to 90.1; low-certainty evidence), while single-stage screening had a sensitivity of 50.5% (95% CI 38.5 to 62.4; very low-certainty evidence). The specificity of two-stage screening was 99.9% (95% CI 99.7 to 100; low-certainty evidence) and for single-stage screening, it was 99.8% (95% CI 99.2 to 100; moderate-certainty evidence). Indirect comparisons suggested superiority of two-stage screening across all analyses regarding sensitivity, with no significant difference in specificity. However, the certainty of the evidence is very low due to the absence of direct comparisons. AUTHORS' CONCLUSIONS A first-trimester scan has the potential to detect lethal and certain severe anomalies with high accuracy before 14 weeks' gestation, despite its limited overall sensitivity. Conversely, two-stage screening shows high accuracy in detecting most fetal structural anomalies before 24 weeks' gestation with high sensitivity and specificity. In a hypothetical cohort of 100,000 fetuses, the first-trimester scan is expected to correctly identify 113 out of 124 fetuses with lethal anomalies (91.3%) and 665 out of 1776 fetuses with any anomaly (37.5%). However, 79 false-positive diagnoses are anticipated among 98,224 fetuses (0.08%). Two-stage screening is expected to correctly identify 1448 out of 1776 cases of structural anomalies overall (83.8%), with 118 false positives (0.1%). In contrast, single-stage screening is expected to correctly identify 896 out of 1776 cases before 24 weeks' gestation (50.5%), with 205 false-positive diagnoses (0.2%). This represents a difference of 592 fewer correct identifications and 88 more false positives compared to two-stage screening. However, it is crucial to acknowledge the uncertainty surrounding the additional benefits of two-stage versus single-stage screening, as there are no studies directly comparing them. Moreover, the evidence supporting the accuracy of first-trimester ultrasound and two-stage screening approaches primarily originates from studies conducted in single tertiary care facilities, which restricts the generalisability of the results of this meta-analysis to the broader population.
Collapse
Affiliation(s)
- Marieke Fj Buijtendijk
- Department of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands
- Amsterdam Reproduction and Development Research Institute, Amsterdam, Netherlands
| | - Bo B Bet
- Amsterdam Reproduction and Development Research Institute, Amsterdam, Netherlands
- Department of Obstetrics and Gynaecology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands
| | - Mariska Mg Leeflang
- Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands
| | - Harsha Shah
- Department of Obstetrics and Gynaecology, Queen Charlotte's and Chelsea Hospital, Imperial College London, London, UK
| | - Tom Reuvekamp
- Department of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands
| | - Timothy Goring
- Department of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands
| | - Daniel Docter
- Department of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands
| | - Melanie Gmm Timmerman
- Department of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands
| | - Yousif Dawood
- Department of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands
- Amsterdam Reproduction and Development Research Institute, Amsterdam, Netherlands
- Department of Obstetrics and Gynaecology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands
| | - Malou A Lugthart
- Amsterdam Reproduction and Development Research Institute, Amsterdam, Netherlands
- Department of Obstetrics and Gynaecology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands
| | - Bente Berends
- Department of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands
| | - Jacqueline Limpens
- Medical Library, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands
| | - Eva Pajkrt
- Amsterdam Reproduction and Development Research Institute, Amsterdam, Netherlands
- Department of Obstetrics and Gynaecology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands
| | - Maurice Jb van den Hoff
- Department of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands
- Amsterdam Cardiovascular Sciences Research Institute, Amsterdam, Netherlands
| | - Bernadette S de Bakker
- Department of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands
- Amsterdam Reproduction and Development Research Institute, Amsterdam, Netherlands
- Department of Obstetrics and Gynaecology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, Netherlands
- Department of Paediatric Surgery, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, Netherlands
| |
Collapse
|
|
3
|
Stanton E, Sheridan S, Urata M, Chai Y. From Bedside to Bench and Back: Advancing Our Understanding of the Pathophysiology of Cleft Palate and Implications for the Future. Cleft Palate Craniofac J 2024; 61:759-773. [PMID: 36457208 DOI: 10.1177/10556656221142098] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/17/2024] Open
Abstract
OBJECTIVE To provide a comprehensive understanding of the pathophysiology of cleft palate (CP) and future perspectives. DESIGN Literature review. SETTING Setting varied across studies by level of care and geographical locations. INTERVENTIONS No interventions were performed. MAIN OUTCOME MEASURE(S) Primary outcome measures were to summarize our current understanding of palatogenesis in humans and animal models, the pathophysiology of CP, and potential future treatment modalities. RESULTS Animal research has provided considerable insight into the pathophysiology, molecular and cellular mechanisms of CP that have allowed for the development of novel treatment strategies. However, much work has yet to be done to connect our mouse model investigations and discoveries to CP in humans. The success of innovative strategies for tissue regeneration in mice provides promise for an exciting new avenue for improved and more targeted management of cleft care with precision medicine in patients. However, significant barriers to clinical translation remain. Among the most notable challenges include the differences in some aspects of palatogenesis and tissue repair between mice and humans, suggesting that potential therapies that have worked in animal models may not provide similar benefits to humans. CONCLUSIONS Increased translation of pathophysiological and tissue regeneration studies to clinical trials will bridge a wide gap in knowledge between animal models and human disease. By enhancing interaction between basic scientists and clinicians, and employing our animal model findings of disease mechanisms in concert with what we glean in the clinic, we can generate a more targeted and improved treatment algorithm for patients with CP.
Collapse
Affiliation(s)
- Eloise Stanton
- Center for Craniofacial Molecular Biology, University of Southern California, Los Angeles, CA, USA
- Keck School of Medicine, University of Southern California, Los Angeles, CA, USA
| | - Samuel Sheridan
- Ostrow School of Dentistry, University of Southern California, Los Angeles, CA, USA
| | - Mark Urata
- Ostrow School of Dentistry, University of Southern California, Los Angeles, CA, USA
- Division of Plastic and Maxillofacial Surgery, Children's Hospital Los Angeles, Los Angeles, CA, USA
| | - Yang Chai
- Center for Craniofacial Molecular Biology, University of Southern California, Los Angeles, CA, USA
- Ostrow School of Dentistry, University of Southern California, Los Angeles, CA, USA
| |
Collapse
|
|
4
|
Baeza-Pagador A, Tejero-Martínez A, Salom-Alonso L, Camañes-Gonzalvo S, García-Sanz V, Paredes-Gallardo V. Diagnostic Methods for the Prenatal Detection of Cleft Lip and Palate: A Systematic Review. J Clin Med 2024; 13:2090. [PMID: 38610855 PMCID: PMC11012824 DOI: 10.3390/jcm13072090] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/23/2024] [Revised: 03/03/2024] [Accepted: 03/08/2024] [Indexed: 04/14/2024] Open
Abstract
Background: Accurate prenatal diagnosis of cleft lip and palate is essential to discuss severity prediction, perform appropriate parental counseling, and, at last, establish long-term treatment planning. The aim of this systematic review was to analyze the accuracy of various imaging techniques for the prenatal diagnosis of cleft lip and palate, assess the pregnancy phase for orofacial clefts diagnosis, and study the different cleft types in terms of diagnostic methods, timing, and predictability. Methods: A search of the PubMed, EMBASE, Scopus, and Web of Science databases was conducted to identify potentially relevant studies published until January 2024. The quality of the selected articles was assessed using the Newcastle-Ottawa scale for methodological quality assessment of cohort studies and the QUADAS-2 scale for diagnostic test studies. Results: A total of 18 studies met the eligibility criteria and were included in the review. The findings of this review indicate that the majority of studies showed improved diagnostic accuracy when supplementary techniques, such as 3D ultrasound or magnetic resonance imaging, were added to 2D ultrasound. Conclusions: The implementation of magnetic resonance imaging as a standard procedure could significantly improve the precision of diagnosing cleft lip and palate. Therefore, the diagnostic technique used will play a crucial role in the accuracy of the diagnosis.
Collapse
Affiliation(s)
- Ana Baeza-Pagador
- Orthodontics Teaching Unit, Department of Stomatology, Faculty of Medicine and Dentistry, University of Valencia, 46010 Valencia, Spain; (A.B.-P.); (A.T.-M.); (S.C.-G.); (V.G.-S.)
| | - Ana Tejero-Martínez
- Orthodontics Teaching Unit, Department of Stomatology, Faculty of Medicine and Dentistry, University of Valencia, 46010 Valencia, Spain; (A.B.-P.); (A.T.-M.); (S.C.-G.); (V.G.-S.)
| | - Lucas Salom-Alonso
- Department of Maxillofacial Surgery, La Fe Hospital, 46026 Valencia, Spain;
| | - Sara Camañes-Gonzalvo
- Orthodontics Teaching Unit, Department of Stomatology, Faculty of Medicine and Dentistry, University of Valencia, 46010 Valencia, Spain; (A.B.-P.); (A.T.-M.); (S.C.-G.); (V.G.-S.)
| | - Verónica García-Sanz
- Orthodontics Teaching Unit, Department of Stomatology, Faculty of Medicine and Dentistry, University of Valencia, 46010 Valencia, Spain; (A.B.-P.); (A.T.-M.); (S.C.-G.); (V.G.-S.)
| | - Vanessa Paredes-Gallardo
- Orthodontics Teaching Unit, Department of Stomatology, Faculty of Medicine and Dentistry, University of Valencia, 46010 Valencia, Spain; (A.B.-P.); (A.T.-M.); (S.C.-G.); (V.G.-S.)
| |
Collapse
|
|
5
|
Sander FH, Jørgensen DS, Jakobsen LP, Jensen AN, Lousen T, Sandager P, Sperling L, Vogel I, Petersen OB, Vedel C. Prenatal detection of orofacial clefts in Denmark from 2009 to 2018. ULTRASOUND IN OBSTETRICS & GYNECOLOGY : THE OFFICIAL JOURNAL OF THE INTERNATIONAL SOCIETY OF ULTRASOUND IN OBSTETRICS AND GYNECOLOGY 2024; 63:507-513. [PMID: 37724632 DOI: 10.1002/uog.27488] [Citation(s) in RCA: 3] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 03/31/2023] [Revised: 08/22/2023] [Accepted: 09/08/2023] [Indexed: 09/21/2023]
Abstract
OBJECTIVE To investigate the overall and type-specific prenatal detection rates (DRs) of orofacial clefts in a national cohort in Denmark. METHODS This study was based on data from the Danish Fetal Medicine Database and included all fetuses and children from singleton pregnancies diagnosed with an orofacial cleft prenatally and/or postnatally between 2009 and 2018. The types of cleft included unilateral, bilateral or median cleft lip (CL); unilateral, bilateral or median cleft lip with secondary cleft palate (CLP); and cleft palate (CP). The clefts were grouped as cleft lip with or without cleft palate (CL(P)) or as all clefts (including CP). All cases with discordance between prenatal and postnatal diagnoses were validated in the local patient files (Astraia). Cases without prenatal validation of the postnatal diagnosis were marked as undetected. Postnatally diagnosed cases with a strong prenatal suspicion of a cleft but without an International Classification of Diseases-10 code were registered as prenatally detected. Termination of pregnancy and intrauterine death were registered as true positives even if no autopsy could be performed. Liveborn cases with a prenatal diagnosis but without a postnatal validation were excluded. RESULTS A total of 994 cases were included in the study, of which 933 were liveborn. The prevalence of orofacial cleft was 1.6 per 1000 live births. There were no differences in the baseline characteristics between detected and undetected cases. The DR for CL(P) was 71.7% (95% CI, 64.8-78.9%), with an increase from 60.0% in 2009 to 73.0% in 2018 (P = 0.018). The type-specific DRs for the entire period were 56.4% (95% CI, 45.0-67.6%) for unilateral CL; 76.6% (95% CI, 71.7-82.9%) for unilateral CLP; 70.5% (95% CI, 52.1-87.6%) for bilateral CL; 82.3% (95% CI, 70.6-93.6%) for bilateral CLP; 0% (0/6) for median CL; 75.0% (3/4) for median CLP; and 3.3% (95% CI, 0.6-5.7%) for CP. A total of 20.9% (208/994) of the cases had associated findings, of which 33.2% (69/208) were genetic aberrations. CONCLUSIONS The DR for CL(P) has improved in Denmark over the last decade. The DR for CLP is high, with the highest DR for bilateral CLP. However, prenatal detection of CP remains a challenge. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Collapse
Affiliation(s)
- F H Sander
- Center of Fetal Medicine, Department of Gynecology, Fertility and Obstetrics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark
- Department of Clinical Medicine, Copenhagen University, Copenhagen, Denmark
| | - D S Jørgensen
- Center of Fetal Medicine, Department of Gynecology, Fertility and Obstetrics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark
| | - L P Jakobsen
- Department of Plastic Surgery, Breast Surgery and Burns Treatment, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark
| | - A N Jensen
- Department of Obstetrics, Aalborg University Hospital, Aalborg, Denmark
| | - T Lousen
- Department of Obstetrics, Zealand University Hospital, Roskilde, Denmark
| | - P Sandager
- Department of Obstetrics, Aarhus University Hospital, Aarhus, Denmark
- Department of Clinical Medicine, Aarhus University, Aarhus, Denmark
- Center of Fetal Diagnostics, Aarhus University, Aarhus, Denmark
| | - L Sperling
- Department of Obstetrics, Odense University Hospital, Odense, Denmark
| | - I Vogel
- Department of Obstetrics, Aarhus University Hospital, Aarhus, Denmark
- Department of Clinical Medicine, Aarhus University, Aarhus, Denmark
- Center of Fetal Diagnostics, Aarhus University, Aarhus, Denmark
| | - O B Petersen
- Center of Fetal Medicine, Department of Gynecology, Fertility and Obstetrics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark
- Department of Clinical Medicine, Copenhagen University, Copenhagen, Denmark
| | - C Vedel
- Center of Fetal Medicine, Department of Gynecology, Fertility and Obstetrics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark
| |
Collapse
|
|
6
|
Weissbach T, Lev S, Haimov A, Massarwa A, Shamay I, Plaschkes R, Assa L, Elkan-Miller T, Weisz B, Nardini G, Armon N, Sharon R, Mazaki Tovi S, Kassif E. The Hard Palate Sweep: a multiplanar 2-dimensional sonographic method for the prenatal detection of cleft palate. Am J Obstet Gynecol 2024; 230:356.e1-356.e10. [PMID: 37741531 DOI: 10.1016/j.ajog.2023.09.014] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/24/2023] [Revised: 09/06/2023] [Accepted: 09/13/2023] [Indexed: 09/25/2023]
Abstract
BACKGROUND Prenatal diagnosis of cleft palate is challenging. Numerous 2-dimensional and 3-dimensional methods have been proposed to assess the integrity of the fetal palate, yet detection rates remain relatively low. We propose the "Hard Palate Sweep," a novel 2-dimensional method that enables clear demonstration of the entire fetal palate throughout pregnancy, in a single sweep, avoiding acoustic shadows cast by surrounding bones. OBJECTIVE This study aimed to assess the feasibility and performance of the Hard Palate Sweep, performed throughout pregnancy. STUDY DESIGN This was a prospective cross-sectional study performed between 2018 and 2022 in pregnant patients referred for a routine or targeted anomaly scan between 13 and 40 weeks of gestation. The presence or absence of a cleft palate was determined using the "Hard Palate Sweep." This was compared with the postnatal palate integrity assessment. Test feasibility and performance indices, including sensitivity, specificity, and positive and negative predictive values were calculated. Offline clips were reviewed by 2 investigators for the assessment of inter- and intraoperator agreement, using Cohen's kappa formula. The study protocol was approved by the institutional ethics committee. All participating patients were informed and provided consent. RESULTS A total of 676 fetuses were included in the study. The Hard Palate Sweep was successfully performed in all cases, and 19 cases were determined to have a cleft palate. Of these, 13 cases were excluded because postmortem confirmation was not performed, leaving 663 cases available for analysis. Six cases determined to have a cleft palate were confirmed postnatally. In 655 of 657 cases prenatally determined to have an intact palate, this was confirmed postnatally. In the 2 remaining cases, rare forms of cleft palate were diagnosed postnatally, rendering 75% sensitivity, 100% specificity, 100% positive predictive value, and 99.7% negative predictive value for the Hard Palate Sweep (P<.001). There was complete intra- and interoperator agreement (kappa=1; P<.0001). CONCLUSION The Hard Palate Sweep is a feasible and accurate method for prenatally detecting a cleft palate. It was successfully performed in all attempted cases between 13 and 40 weeks of gestation. This method is reproducible, offering high sensitivity and specificity. Implemented routinely, the Hard Palate Sweep is expected to increase the prenatal detection of cleft palate.
Collapse
Affiliation(s)
- Tal Weissbach
- Department of Obstetrics and Gynecology, Institute of Obstetrical and Gynecological Imaging, Sheba Medical Center, Ramat Gan, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
| | - Shir Lev
- Department of Obstetrics and Gynecology, Institute of Obstetrical and Gynecological Imaging, Sheba Medical Center, Ramat Gan, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
| | - Adina Haimov
- Department of Obstetrics and Gynecology, Institute of Obstetrical and Gynecological Imaging, Sheba Medical Center, Ramat Gan, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
| | - Abeer Massarwa
- Department of Obstetrics and Gynecology, Institute of Obstetrical and Gynecological Imaging, Sheba Medical Center, Ramat Gan, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
| | - Idan Shamay
- Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel
| | - Roni Plaschkes
- Department of Obstetrics and Gynecology, Institute of Obstetrical and Gynecological Imaging, Sheba Medical Center, Ramat Gan, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
| | - Lior Assa
- Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
| | - Tal Elkan-Miller
- Department of Obstetrics and Gynecology, Institute of Obstetrical and Gynecological Imaging, Sheba Medical Center, Ramat Gan, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
| | - Boaz Weisz
- Department of Obstetrics and Gynecology, Institute of Obstetrical and Gynecological Imaging, Sheba Medical Center, Ramat Gan, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
| | - Gil Nardini
- Department of Plastic Surgery, Sheba Medical Center, Ramat Gan, Israel
| | - Noam Armon
- Department of Plastic and Aesthetic Surgery, Hadassah University Medical Center, Jerusalem, Israel
| | - Roni Sharon
- Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; Department of Neurology, Sheba Medical Center, Ramat Gan, Israel
| | - Shali Mazaki Tovi
- Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; Department of Obstetrics and Gynecology, Sheba Medical Center, Ramat Gan, Israel
| | - Eran Kassif
- Department of Obstetrics and Gynecology, Institute of Obstetrical and Gynecological Imaging, Sheba Medical Center, Ramat Gan, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
| |
Collapse
|
|
7
|
Rubio E, Mantilla-Rivas E, Manrique M, Fan KL, Blask A, Rada EM, Bulas D, White MA, Rogers GF, Oh AK. Alveolar Cleft Size on Prenatal Two-Dimensional Ultrasonography Predicts Cleft of the Secondary Palate in Unilateral Cleft Lip. Plast Reconstr Surg 2023; 152:895e-899e. [PMID: 36940150 DOI: 10.1097/prs.0000000000010437] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 03/21/2023]
Abstract
SUMMARY Prenatal diagnosis of cleft palate (CP) is challenging. The current study's objective was to investigate whether prenatal alveolar cleft width is associated with the likelihood of a cleft of the secondary palate in unilateral cleft lip (CL). The authors reviewed two-dimensional ultrasound (US) images in fetuses with unilateral CL from January of 2012 to February of 2016. Images of the fetal face were obtained with a linear and/or curved probe in the axial and coronal planes. Measurements of the alveolar ridge gap were taken by the senior radiologist. Postnatal phenotype findings were compared with prenatal findings. Thirty patients with unilateral CL met inclusion criteria; average gestational age was 26.67 ± 5.11 weeks (range, 20.71 to 36.57 weeks). Ten fetuses were found to have an intact alveolar ridge by prenatal US; postnatal examination confirmed intact secondary palate in all. Small alveolar defects (<4 mm) were noted in three fetuses; postnatal examination documented CP in a single patient. CP was confirmed in 15 of the remaining 17 fetuses who had alveolar cleft width greater than 4 mm. An alveolar defect of greater than or equal to 4 mm on prenatal US was associated with greater likelihood of a cleft of the secondary palate [c 2 (2, n = 30) = 20.23; P < 0.001]. In the setting of unilateral CL, prenatal US documentation of alveolar defects greater than or equal to 4 mm are highly predictive of the presence of a cleft of the secondary palate. Conversely, an intact alveolar ridge is associated with an intact secondary palate. CLINICAL QUESTION/LEVEL OF EVIDENCE Diagnostic, II.
Collapse
Affiliation(s)
| | - Esperanza Mantilla-Rivas
- Division of Plastic and Reconstructive Surgery, Children's National Hospital, George Washington University School of Medicine and Health Sciences
| | - Monica Manrique
- Division of Plastic and Reconstructive Surgery, Children's National Hospital, George Washington University School of Medicine and Health Sciences
| | - Kenneth L Fan
- Division of Plastic and Reconstructive Surgery, Children's National Hospital, George Washington University School of Medicine and Health Sciences
| | | | - Erin M Rada
- Division of Plastic and Reconstructive Surgery, Children's National Hospital, George Washington University School of Medicine and Health Sciences
| | | | - Marney A White
- Department of Social and Behavioral Sciences, Yale University School of Public Health
| | - Gary F Rogers
- Division of Plastic and Reconstructive Surgery, Children's National Hospital, George Washington University School of Medicine and Health Sciences
| | - Albert K Oh
- Division of Plastic and Reconstructive Surgery, Children's National Hospital, George Washington University School of Medicine and Health Sciences
| |
Collapse
|
|
8
|
Wilkes C, Graetz M, Downie L, Bethune M, Chong D. Prenatal diagnosis of cleft lip and/or palate: What do we tell prospective parents? Prenat Diagn 2023; 43:1310-1319. [PMID: 37552068 DOI: 10.1002/pd.6418] [Citation(s) in RCA: 5] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/30/2023] [Revised: 07/22/2023] [Accepted: 07/24/2023] [Indexed: 08/09/2023]
Abstract
Cleft lip and/or palate (CL/CP) is the most common congenital craniofacial anomaly and parents often ask, "how did this happen?" Patients and families may benefit from access to a multidisciplinary team (MDT) from prenatal diagnosis into early adulthood. Multiple factors can contribute to the development of a cleft. We discuss the epidemiology and risk factors that increase the likelihood of having a newborn with a cleft. The purpose of this article is to review the prenatal investigations involved in the diagnosis and workup of these patients in addition to postpartum treatment, prognostic factors, and counseling families regarding future recurrence risk.
Collapse
Affiliation(s)
- Courtney Wilkes
- Department of Plastic and Maxillofacial Surgery, The Royal Children's Hospital, Melbourne, Victoria, Australia
| | - Melissa Graetz
- Department of Genetics, Mercy Hospital for Women, Melbourne, Victoria, Australia
| | - Lilian Downie
- Department of Genetics, Mercy Hospital for Women, Melbourne, Victoria, Australia
| | - Michael Bethune
- Department of Medical Imaging and Perinatal Medicine, The Mercy Hospital for Women, Melbourne, Victoria, Australia
- Specialist Women's Ultrasound, Melbourne, Victoria, Australia
| | - David Chong
- Department of Plastic and Maxillofacial Surgery, The Royal Children's Hospital, Melbourne, Victoria, Australia
| |
Collapse
|
|
9
|
Minor K, Chueh J. Understanding the distinction between cleft lip and cleft palate: a critical step for successful prenatal detection. Curr Opin Obstet Gynecol 2023; 35:113-126. [PMID: 36912278 DOI: 10.1097/gco.0000000000000852] [Citation(s) in RCA: 4] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 03/14/2023]
Abstract
PURPOSE OF REVIEW Orofacial clefts (OCs) are among the most common congenital anomalies, however, prenatal detection of cleft palate without cleft lip (CP) remains low. CP is associated with a higher risk of associated structural anomalies, recurrence risk and genetic aberrations. There is opportunity to optimize prenatal diagnosis, counseling and diagnostic genetic testing for OCs. RECENT FINDINGS Improving prenatal diagnosis of CP requires understanding that embryologically, the secondary palate develops from the 6th to the 10th week and fuses with the primary palate by the 12th week. Multiple first, second and third trimester 2D ultrasonographic markers for OCs have been described including the maxillary gap, frontal space, maxilla-nasion-mandible angle, retronasal triangle, palatino-maxillary diameter, equal sign, nonvisualization or gap in the soft to hard palate interface and loss of the superimposed line. We discuss the technique, evidence and limitations of each. SUMMARY Prenatal detection of OC can be optimized by employing 2D sonographic markers. Prenatal detection of CP may be improved by recognizing its high association with retrognathia/micrognathia.
Collapse
Affiliation(s)
- Kathleen Minor
- Division of Maternal-Fetal Medicine & Obstetrics, Department of Obstetrics and Gynecology, School of Medicine, Stanford University, Stanford, California, USA
| | | |
Collapse
|
|
10
|
Soster E, Dyr B, Rafalko J, Almasri E, Cacheris P. Positive cfDNA screening results for 22q11.2 deletion syndrome—Clinical and laboratory considerations. Front Genet 2023; 14:1146669. [PMID: 36968594 PMCID: PMC10036386 DOI: 10.3389/fgene.2023.1146669] [Citation(s) in RCA: 5] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/17/2023] [Accepted: 02/27/2023] [Indexed: 03/12/2023] Open
Abstract
Introduction: Non-invasive prenatal screening (NIPS) via cell-free DNA (cfDNA) screens for fetal chromosome disorders using maternal plasma, including 22q11.2 deletion syndrome (22q11.2DS). While it is the commonest microdeletion syndrome and has potential implications for perinatal management, prenatal screening for 22q11.2DS carries some inherent technical, biological, and counseling challenges, including varying deletion sizes/locations, maternal 22q11.2 deletions, confirmatory test choice, and variable phenotype.Materials and methods: This study addresses these considerations utilizing a retrospective cohort of 307 samples with screen-positive 22q11.2 NIPS results on a massively parallel sequencing (MPS) platform.Results: Approximately half of the cases reported ultrasound findings at some point during pregnancy. In 63.2% of cases with diagnostic testing, observed positive predictive values were 90.7%–99.4%. cfDNA identified deletions ranging from <1 Mb to 3.55 Mb, with significant differences in confirmed fetal versus maternal deletion sizes; estimated cfDNA deletion size was highly concordant with microarray findings. Mosaicism ratio proved useful in predicting the origin of a deletion (fetal versus maternal). Prediction of deletion size, location, and origin may help guide confirmatory testing.Discussion: The data shows that MPS-based NIPS can screen for 22q11.2DS with a high PPV, and that collaboration between the laboratory and clinicians allows consideration of additional metrics that may guide diagnostic testing and subsequent management.
Collapse
Affiliation(s)
- Erica Soster
- Labcorp, La Jolla, CA, United States
- *Correspondence: Erica Soster,
| | | | - Jill Rafalko
- Labcorp, La Jolla, CA, United States
- PetDx, The Center for Novel Therapeutics, La Jolla, CA, United States
| | | | | |
Collapse
|
|
11
|
Tonni G, Peixoto AB, Werner H, Grisolia G, Ruano R, Sepulveda F, Sepulveda W, Araujo Júnior E. Ultrasound and fetal magnetic resonance imaging: Clinical performance in the prenatal diagnosis of orofacial clefts and mandibular abnormalities. JOURNAL OF CLINICAL ULTRASOUND : JCU 2023; 51:346-361. [PMID: 36785498 DOI: 10.1002/jcu.23403] [Citation(s) in RCA: 9] [Impact Index Per Article: 4.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 09/28/2022] [Revised: 11/12/2022] [Accepted: 11/14/2022] [Indexed: 06/18/2023]
Abstract
Cleft lip, with or without cleft palate, is the most common congenital craniofacial anomaly and the second most common birth defect worldwide. Micrognathia is a rare facial malformation characterized by small, underdeveloped mandible and frequently associated with retrognathia. Second- and third-trimester prenatal ultrasound is the standard modality for screening and identification of fetal orofacial abnormalities, with a detection rate in the low-risk population ranging from 0% to 73% for all types of cleft. The prenatal ultrasonography detection can also be performed during the first trimester of pregnancy. Given the potential limitations of obstetric ultrasound for examining the fetal face, such as suboptimal fetal position, shadowing from the surrounding bones, reduce amniotic fluid around the face, interposition of fetal limbs, umbilical cord and placenta, and maternal habitus/abdominal scars, the use of adjunct imaging modalities can enhance prenatal diagnosis of craniofacial anomalies in at-risk pregnancies. Fetal magnetic resonance imaging (MRI) is a potentially useful second-line investigation for the prenatal diagnosis of orofacial malformations with a pooled sensitivity of 97%. In this review, we discuss the role of ultrasound and fetal MRI in the prenatal assessment of abnormalities of the upper lip, palate, and mandible.
Collapse
Affiliation(s)
- Gabriele Tonni
- Prenatal Diagnostic Centre, Department of Obstetrics and Neonatology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), AUSL Reggio Emilia, Reggio Emilia, Italy
| | - Alberto Borges Peixoto
- Department of Obstetrics and Gynecology, Federal University of Triângulo Mineiro (UFTM), Uberaba, Brazil
| | - Heron Werner
- Department of Fetal Medicine, Clínica de Diagnóstico por Imagem (CDPI - DASA), Rio de Janeiro, Brazil
| | - Gianpaolo Grisolia
- Department of Obstetrics and Gynecology, Carlo Poma Hospital, ASST Mantova, Mantova, Italy
| | - Rodrigo Ruano
- Division of Maternal-Fetal Medicine, UH Jackson Fetal Care, Miller School of Medicine, University of Miami, Miami, Florida, USA
| | - Francisco Sepulveda
- FETALMED-Maternal-Fetal Diagnostic Center, Fetal Imaging Unit, Santiago, Chile
| | - Waldo Sepulveda
- FETALMED-Maternal-Fetal Diagnostic Center, Fetal Imaging Unit, Santiago, Chile
| | - Edward Araujo Júnior
- Department of Obstetrics, Paulista School of Medicine, Federal University of São Paulo (EPM-UNIFESP), São Paulo, Brazil
| |
Collapse
|
|
12
|
Stoll C, Alembik Y, Roth MP. Co-occurring anomalies in congenital oral clefts. Am J Med Genet A 2022; 188:1700-1715. [PMID: 35179301 DOI: 10.1002/ajmg.a.62689] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/31/2021] [Revised: 01/11/2022] [Accepted: 01/22/2022] [Indexed: 11/07/2022]
Abstract
Oral clefts (OCs) are frequently co-occurring with other non-OC congenital anomalies. The types and the prevalence of anomalies co-occurring with OCs vary in the reported studies. The aims of this report were to study the types and the prevalence of the anomalies co-occurring with OCs in a well-defined population. The types and the prevalence of anomalies co-occurring in cases with OCs were ascertained in all terminations of pregnancy, stillbirths, and live births in 387,067 births occurring consecutively during the period 1979-2007 in the area covered by our registry of congenital anomalies which is population based, 789 cases of OCs were registered during the study period with a prevalence of 20.4 per 10,000 births, 39.5% of the cases had associated non-OC anomalies. Associated anomalies were more common in cases with cleft palate (52.4%) than in cases with cleft lip and palate (37.3%) and in cases with cleft lip only (16.8%). Chromosomal abnormalities were present in 94 (11.9%) cases including 27 trisomies 13, 15 trisomies 18, 12 22 q11.2 deletion, and 40 other chromosomal abnormalities. Nonchromosomal recognizable conditions were diagnosed in 38 cases (4.8%) including syndromes, associations, spectrums and sequences. Multiple congenital anomalies (MCAs) were present in 180 cases (22.8%). The most frequent MCA were in the musculoskeletal system (16.7%), the central nervous system (15.0%), the urogenital system (13.7%), the cardiovascular system (8.6%), and the digestive system (6.6%). The high prevalence of associated anomalies justifies a thorough screening for other congenital anomalies in cases with OCs.
Collapse
Affiliation(s)
- Claude Stoll
- Genetique Medicale, Faculte de Medecine, Strasbourg, France
| | - Yves Alembik
- Genetique Medicale, Faculte de Medecine, Strasbourg, France
| | | |
Collapse
|
|
13
|
Natsume N, Furukawa H, Niimi T, Takeuchi K, Yoshida W, Sakuma C, Imura H, Fujiwara K, Akashi J, Hayami K, Natsume N. Changes in the birth prevalence of orofacial clefts in Japan: Has the birth prevalence of orofacial clefts been affected by improved accuracy of prenatal diagnosis? Congenit Anom (Kyoto) 2022; 62:11-17. [PMID: 34505318 DOI: 10.1111/cga.12444] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/01/2021] [Revised: 06/29/2021] [Accepted: 08/04/2021] [Indexed: 11/30/2022]
Abstract
We have been conducting a survey on the birth prevalence of orofacial clefts, including cleft lip with or without cleft palate and cleft palate, in the Tokai area in central Japan every year for 37 years. Along with the yearly trends in the birth prevalence of orofacial clefts in that area for the past 37 years, we discuss whether the artificial abortion rate of fetuses with orofacial clefts has increased through the improved performance of ultrasonic imaging equipment. We also compare the yearly trends in the birth prevalence of congenital anomalies, including orofacial clefts, in Japan with those in other countries or areas where artificial abortion due to birth defects is legally permitted, and discuss the impact of improved accuracy of ultrasound imaging on the rate of artificial termination of pregnancy. The fact that the birth prevalence of orofacial clefts has basically remained unchanged for more than 30 years, even with recent more detailed prenatal diagnosis based on the improvement of ultrasonic diagnostic equipment, has allowed us tentatively to conclude that prenatal diagnosis is not currently threatening the right to life of the fetuses with orofacial clefts.
Collapse
Affiliation(s)
- Nagato Natsume
- Cleft Lip and Palate Center, Aichi Gakuin University Dental Hospital, Nagoya, Japan.,Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University, Nagoya, Japan
| | - Hiroo Furukawa
- Cleft Lip and Palate Center, Aichi Gakuin University Dental Hospital, Nagoya, Japan.,Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University, Nagoya, Japan.,Department of Health Science, Faculty of Psychological and Physical Science, Aichi Gakuin University, Nisshin, Japan
| | - Teruyuki Niimi
- Cleft Lip and Palate Center, Aichi Gakuin University Dental Hospital, Nagoya, Japan.,Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University, Nagoya, Japan
| | - Kazuo Takeuchi
- Department of Gerodontology and Home Care Dentistry, School of Dentistry, Aichi Gakuin University, Nagoya, Japan
| | - Waka Yoshida
- Department of Oral Pathology, School of Dentistry, Aichi Gakuin University, Nagoya, Japan
| | - Chisato Sakuma
- Cleft Lip and Palate Center, Aichi Gakuin University Dental Hospital, Nagoya, Japan.,Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University, Nagoya, Japan
| | - Hideto Imura
- Cleft Lip and Palate Center, Aichi Gakuin University Dental Hospital, Nagoya, Japan.,Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University, Nagoya, Japan
| | - Kumiko Fujiwara
- Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University, Nagoya, Japan.,Department of Oral and Maxillofacial Surgery, Graduate School of Medicine and Pharmaceutical Sciences for Research, University of Toyama, Toyama, Japan
| | - Junko Akashi
- Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University, Nagoya, Japan
| | - Kayo Hayami
- Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University, Nagoya, Japan
| | - Nagana Natsume
- Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University, Nagoya, Japan
| |
Collapse
|
|
14
|
Decreasing Incidence of Palatoplasty in the United States. J Craniofac Surg 2021; 32:2710-2712. [PMID: 34231517 DOI: 10.1097/scs.0000000000007799] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/26/2022] Open
Abstract
INTRODUCTION Cleft palate is amongst the most common birth defect across the world. Although its etiology is multifactorial, including genetic and environmental contributors, the investigators were interested in exploring whether its incidence was changing over time. METHODS The Nationwide Inpatient Sample database, the largest publically available healthcare database in the United States, was used to identify all primary palatoplasties performed under 2 years of age and births which occurred over a 17-year period from 1999 to 2015. The change in rate of palatoplasties and overall maternal demographics were assessed longitudinally using the chi-squared test. Significance level was set at P < 0.001. RESULTS A total of 13,808,795 pregnancies were reviewed during the time period, from 1999 to 2015, inclusively. A total of 10,567 primary palatoplasties were performed in that period of time reflecting an overall rate of 7.7 palatoplasties per 10,000 deliveries. Palatoplasty rates decreased across the study period from 9.5 per 10,000 in 1999 to 7.1 per 10,000 died/delivered pregnancies in 2015 which corresponds to an average compounded year-to-year decrease of 1.76%, P < 0.001. CONCLUSIONS The rate of primary palatoplasties, as a proxy for the rate of cleft palate prevalence, has been significantly decreasing over the last 2 decades and may represent improvements in early diagnosis in pregnancy, changing genetic or racial demographics, and/or environmental factors such as decreased maternal smoking in the US population. Future research may be directed at better understanding the definitive etiology of this decreasing prevalence of children undergoing primary cleft palate repairs in the United States.
Collapse
|
|
15
|
Ji C, Yang Z, Yin L, Deng X, Pan Q, Lu B, Zhang J, Jiang W, Jiang X. The application of three-dimensional ultrasound with reformatting technique in the diagnosis of fetal cleft lip/palate. JOURNAL OF CLINICAL ULTRASOUND : JCU 2021; 49:307-314. [PMID: 33665816 DOI: 10.1002/jcu.22994] [Citation(s) in RCA: 15] [Impact Index Per Article: 3.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 01/02/2020] [Revised: 01/22/2021] [Accepted: 02/11/2021] [Indexed: 06/12/2023]
Abstract
OBJECTIVE To evaluate the clinical value of three-dimensional ultrasound (3D-US) with reformatting technique in the diagnosis of fetal cleft lip/palate (CL/P), especially those involving the secondary palate. METHODS A total of 113 fetuses suspected with cleft lip (CL) on two-dimensional ultrasound (2D-US) were further evaluated by 2D-US and 3D-US with reformatting technique, in order to clarify the type of oral cleft. Lesions were classified as cleft lip (CL), cleft lip and alveolus (CLA), and cleft lip and palate (CLP) (including primary and secondary palate). All fetuses were followed until birth or termination of pregnancy. The diagnostic accuracies of 2D-US and 3D-US with reformatting technology were compared. RESULTS Both 2D-US and 3D-US with reformatting successfully detected CLs in the final 103 participants. Among these, 29, 25, and 49 cases were confirmed to have CL, CLA, and CLP, respectively. CL, CLA, and CLP were diagnosed by 2D-US in 34, 66, and 3 cases, respectively, and by 3D-US with reformatting technology in 31, 27, and 45 cases, respectively. The sensitivities of 2D-US and 3D-US with reformatting technology in the diagnosis of CLA were 80% (20/25) and 92.0% (23/25), respectively, and the difference was not statistically significant. For CLP, however, the sensitivities were 6.1% (3/49) and 91.8% (45/49), respectively (P < .001). CONCLUSIONS Both 2D-US and 3D-US with reformatting technique have high diagnostic accuracy for CL and CLA. However, 3D-US has a much higher diagnostic accuracy for CLP.
Collapse
Affiliation(s)
- Chunya Ji
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Suzhou, Jiangsu, China
| | - Zhong Yang
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Suzhou, Jiangsu, China
| | - Linliang Yin
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Suzhou, Jiangsu, China
| | - Xuedong Deng
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Suzhou, Jiangsu, China
| | - Qi Pan
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Suzhou, Jiangsu, China
| | - Bing Lu
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Suzhou, Jiangsu, China
| | - Jun Zhang
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Suzhou, Jiangsu, China
| | - Wei Jiang
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Suzhou, Jiangsu, China
| | - Xiaoli Jiang
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Suzhou, Jiangsu, China
| |
Collapse
|
|
16
|
Lesieur E, Degardin N, Develay-Morice JE, Quarello E. [Ultrasound scan of a fetus with facial cleft must be done from the lip to the uvula: What's new?]. ACTA ACUST UNITED AC 2021; 49:767-781. [PMID: 33766791 DOI: 10.1016/j.gofs.2021.03.007] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/21/2021] [Indexed: 10/21/2022]
Abstract
Facial cleft are the most frequent craniofacial anomalies with an incidence of one for 1000 births, all births combined, and require specialized multidisciplinary care. Since 2005, the systematic realization of two ultrasound views (nose-lip and profile) is recommended for the exploration of the fetal face in the 2nd trimester of pregnancy. Application of these recommendations should allow screening of the majority of cleft lip and palate. However, cleft palates, without labiomaxillary involvement, are currently largely underdiagnosed at prenatal ultrasound, although they can be associated with a syndromic diagnosis in up to 30% of cases. The aim of this work is to describe, from embryology to surgical consultation, the complete ultrasound examination of a fetus with a classic facial cleft.
Collapse
Affiliation(s)
- E Lesieur
- Screening and Diagnosis Unit, Department of Obstetrics and Gynecology, Saint-Joseph Hospital, 26, boulevard de Louvain, 13008 Marseille, France.
| | - N Degardin
- Department of Pediatric Plastic Surgery, Public Assistance Hospital of Marseille, University Hospital Center Timone, 278, rue Saint-Pierre, 13005 Marseille, France
| | - J-E Develay-Morice
- Department of Gynecology and Obstetrics, Gynepole, Assistance Publique-Hôpitaux de Marseille, chemin des Bourrely, 13015 Marseille, France
| | - E Quarello
- Screening and Diagnosis Unit, Department of Obstetrics and Gynecology, Saint-Joseph Hospital, 26, boulevard de Louvain, 13008 Marseille, France; IMAGE2 Center, 6, rue Rocca, 13008 Marseille, France
| |
Collapse
|
|
17
|
Kruse T, Neuschulz J, Wilhelm L, Ritgen J, Braumann B. Prenatal Diagnosis of Robin Sequence: Sensitivity, Specificity, and Clinical Relevance of an Index for Micrognathia. Cleft Palate Craniofac J 2020; 58:1012-1019. [PMID: 33228397 DOI: 10.1177/1055665620972297] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/11/2023] Open
Abstract
OBJECTIVE Micrognathia in connection with glossoptosis (called Robin sequence) may lead to life-threatening respiratory problems immediately after birth. An objective detection during prenatal routine ultrasound sonography is possible using an index that relates fetal lower jaw length to femur length or gestational age. The aim of this study was to test the method's sensitivity and specificity and to discuss its predictive power concerning neonatal respiratory insufficiency. DESIGN Patients with subjectively identified suspicious signs in the sagittal profile view were included in the study: Two-dimensional serial ultrasound scans of their fetal mandible were used to measure the lower jaw lengths and compare them to predicted values according to an index, derived from 313 healthy fetuses. Follow-up data provided additional information on the clinical appearance of the newborns. RESULTS The index showed a high sensitivity: 15 of the 16 cases with a micrognathia were correctly diagnosed (sensitivity of 93.75%). Follow-up data showed that newborns with similar index values differed in terms of their upper airway obstruction and treatment need. CONCLUSION Fetal mandibular micrognathia can be objectively evaluated with the help of the index. The method allows an early detection of micrognathia, which helps to take the necessary steps for proper treatment of potential life-threatening respiratory impairment. Observations ranging outside the prediction interval could prompt the ultrasonographer to check for other associated malformations.
Collapse
Affiliation(s)
- Teresa Kruse
- 14309Department of Orthodontics, University of Cologne, Cologne, Germany.,Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany
| | - Julia Neuschulz
- 14309Department of Orthodontics, University of Cologne, Cologne, Germany.,Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany
| | - Lucas Wilhelm
- Practice for Prenatal Diagnostics and Fetal Echocardiography, Frankfurt, Germany
| | - Jochen Ritgen
- Practice for Prenatal Medicine and Genetics, Cologne, Germany
| | - Bert Braumann
- 14309Department of Orthodontics, University of Cologne, Cologne, Germany.,Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany
| |
Collapse
|
|
18
|
Faure JM, Mousty E, Bigorre M, Wells C, Boulot P, Captier G, Fuchs F. Prenatal ultrasound diagnosis of cleft palate without cleft lip, the new ultrasound semiology. Prenat Diagn 2020; 40:1447-1458. [PMID: 32673416 DOI: 10.1002/pd.5794] [Citation(s) in RCA: 26] [Impact Index Per Article: 5.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/10/2020] [Revised: 07/01/2020] [Accepted: 07/09/2020] [Indexed: 11/12/2022]
Abstract
OBJECTIVES The aim of this study was to define the prenatal ultrasound semiology of cleft palate without cleft lip using 3D visualization of the fetal palate. METHODS A prospective longitudinal study was performed in our University Hospital Center from 2011 to 2018. The fetal secondary palate was studied in 3D, starting with 2D axial transverse ultrasound view. We defined a cleft palate as a disruption of the horizontal plate of the palatine bone of the secondary palate. Prenatal findings were correlated to anatomic postnatal examinations performed by a paediatric plastic surgeon. RESULTS Forty-three cases of cleft palate without cleft lip were prenatally diagnosed, of whom 34 were associated with malformations. We defined four types of disruptive appearances: isolated nonvisualization of the posterior nasal spine; partial-disruption or cleft velum; complete disappearance or V-shaped cleft palate; and complete disappearance or U-shaped cleft palate. The adjusted kappa coefficient, between prenatal and postnatal evaluation, was 0.88 (95% CI: 0.79-0.97), corresponding to an excellent agreement. CONCLUSIONS Using a strictly axial transverse ultrasound view, visualization of the secondary fetal palate enables to diagnose a cleft palate without cleft lip. This method offers a prenatal anatomic classification of cleft palate with a high level of concordance to postnatal findings.
Collapse
Affiliation(s)
- Jean Michel Faure
- Department of Obstetrics and Gynecology, University Hospital Center, Montpellier, France
| | - Eve Mousty
- Department of Obstetrics and Gynecology, University Hospital Center, Nîmes, France
| | - Michèle Bigorre
- Department of Plastic Pediatric and Craniofacial Surgery, University Hospital Center, Montpellier, France
| | - Constance Wells
- Department of Genetic, University Hospital Center, Montpellier, France
| | - Pierre Boulot
- Department of Obstetrics and Gynecology, University Hospital Center, Montpellier, France
| | - Guillaume Captier
- Department of Plastic Pediatric and Craniofacial Surgery, University Hospital Center, Montpellier, France
| | - Florent Fuchs
- Department of Obstetrics and Gynecology, University Hospital Center, Montpellier, France.,Inserm, Center for Research in Epidemiology and Population Health (CESP), Villejuif, France.,EA2415, Epidemiologic Biostatistic and Clinical Research Laboratory, University of Montpellier, Montpellier, France
| |
Collapse
|
|
19
|
A Comparison of Early Versus Late Prenatal Magnetic Resonance Imaging in the Diagnosis of Cleft Palate. Ann Plast Surg 2020; 82:S242-S246. [PMID: 30855394 DOI: 10.1097/sap.0000000000001881] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/26/2022]
Abstract
BACKGROUND Prenatal ultrasound is the standard modality to screen for fetal craniofacial malformations, but can be limited by sonographer experience, oligohydramnios, and maternal obesity. Fetal magnetic resonance imaging (MRI) can be used as an adjunct to ultrasound, but there is a paucity of literature on its performance. The objective of this study was to examine the accuracy of fetal MRI for prenatal diagnosis of craniofacial abnormalities in an at-risk patient population and to determine if accuracy is maintained before and after 24 weeks gestational age (GA). METHODS This was a retrospective review of a single-center fetal MRI database including cases from March 2011 to November 2018. All cases were referred for MRI due to a suspected orofacial cleft or micrognathia upon screening ultrasound. Magnetic resonance imaging was performed and interpreted by dedicated fetal MRI radiologists. Prenatal findings were correlated with postnatal anatomy. RESULTS Sixty-one cases were identified. Ten were lost to follow-up and 9 underwent termination of pregnancy. Among the remaining 42 cases, MRI possessed a sensitivity of 91.7% and negative predictive value (NPV) of 90% for prenatal diagnosis of cleft palate. When performed at early GA, fetal MRI (n = 20) demonstrated sensitivity and NPV of 100% for cleft palate diagnosis. For cleft lip, MRI had 93.1% sensitivity and 86.7% NPV without significant decrease in accuracy at early GA. For micrognathia, MRI demonstrated 100% sensitivity and NPV overall, as well as at early and late gestational ages. CONCLUSIONS Fetal MRI is an accurate method for prenatal diagnosis of cleft palate, cleft lip, and micrognathia. Furthermore, it remains highly accurate even when performed before 24 weeks GA. We advocate the use of fetal MRI as an adjunct imaging modality to standard ultrasound for the evaluation of suspected fetal craniofacial anomalies to provide complete and accurate counseling to prospective parents and facilitate the planning of appropriate postnatal care.
Collapse
|
|
20
|
Undetected anomalies in foetuses with a prenatal diagnosis of isolated cleft. Int J Oral Maxillofac Surg 2020; 49:1576-1583. [PMID: 32546322 DOI: 10.1016/j.ijom.2020.05.005] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/18/2019] [Revised: 03/28/2020] [Accepted: 05/11/2020] [Indexed: 11/22/2022]
Abstract
The aim of this study was to determine the rate of undetected additional anomalies following a prenatal diagnosis of isolated oral cleft. Data of all infants with a prenatal diagnosis of isolated oral cleft born between 2000 and 2015 were studied retrospectively. Additional anomalies detected after birth were categorized as minor or major and included structural and chromosomal anomalies. Isolated clefts of the lip (CL), lip and alveolus (CLA) and lip, alveolus, and palate (CLAP) were diagnosed prenatally in 176 live-born infants. The type of cleft was more extensive after birth in 34/176 (19.3%) and less extensive in 16/176 (9.1%) newborns. Additional anomalies were diagnosed in 24 infants (13.6%), of which 12 (6.8%) were categorized as major. The latter included two submicroscopic chromosome anomalies and two gene mutations. Postnatal additional anomalies occurred more frequently in CLA and CLAP than in CL, and more in bilateral than in unilateral clefts. Major anomalies are still found in infants with a prenatal diagnosis of an isolated oral cleft. The prevalence of additional anomalies seems to be related to the type and bilaterality of the cleft, and this should be considered during prenatal counselling.
Collapse
|
|
21
|
Coordination of the Fetal Medicine Institute and the Cleft and Craniofacial Center: Application to Early Management of Infants With Cleft Lip and Palate. J Craniofac Surg 2019; 30:2061-2064. [PMID: 31524754 DOI: 10.1097/scs.0000000000005950] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/27/2022] Open
Abstract
BACKGROUND/PURPOSE The primary objective of this study is to describe the authors' experience at the Children's National Health System with the coordination of the Fetal Medicine Institute and the Cleft and Craniofacial Center. This collaboration highlights the accuracy and completeness of prenatal diagnosis of cleft abnormalities with expedient postnatal management. METHODS With Institutional Review Board approval, the authors retrospectively reviewed 74 patients referred for potential orofacial cleft and 44 met the inclusion criteria. Follow-up fetal ultrasonography is typically performed and three-dimensional imaging was performed when feasible. If questionable anomalies or facial findings are present on these studies, the authors proceed with fetal magnetic resonance imaging. A thorough consultation is held with the cleft team, resulting in a comprehensive plan of care. Postnatal examination confirmed the correct prenatal diagnosis in nearly all patients. RESULTS Sensitivity and specificity for isolated unilateral cleft lip were 89% and 100%, respectively; for unilateral cleft lip and palate, sensitivity and specificity were 82% and 90%, respectively; for bilateral cleft lip and palate, sensitivity and specificity were 97% and 90%, respectively. Initial postnatal evaluation by the cleft surgeon occurred at an average age of 21 days after birth. All patients who were candidates for presurgical orthodontia were treated at an appropriate young age (mean: 66.5 days). CONCLUSIONS Coordinated prenatal evaluation of patients with cleft lip/palate by multidisciplinary centers plays an important role in the care of these complex patients. The results of the authors' study demonstrated high sensitivity and specificity for the prenatal diagnosis of cleft lip/palate, leading to timely postnatal evaluation and treatment.
Collapse
|
|
22
|
Schreurs M, Suttorp CM, Mutsaers HAM, Kuijpers-Jagtman AM, Von den Hoff JW, Ongkosuwito EM, Carvajal Monroy PL, Wagener FADTG. Tissue engineering strategies combining molecular targets against inflammation and fibrosis, and umbilical cord blood stem cells to improve hampered muscle and skin regeneration following cleft repair. Med Res Rev 2019; 40:9-26. [PMID: 31104334 PMCID: PMC6972684 DOI: 10.1002/med.21594] [Citation(s) in RCA: 21] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/13/2019] [Revised: 04/17/2019] [Accepted: 04/19/2019] [Indexed: 12/18/2022]
Abstract
Cleft lip with or without cleft palate is a congenital deformity that occurs in about 1 of 700 newborns, affecting the dentition, bone, skin, muscles and mucosa in the orofacial region. A cleft can give rise to problems with maxillofacial growth, dental development, speech, and eating, and can also cause hearing impairment. Surgical repair of the lip may lead to impaired regeneration of muscle and skin, fibrosis, and scar formation. This may result in hampered facial growth and dental development affecting oral function and lip and nose esthetics. Therefore, secondary surgery to correct the scar is often indicated. We will discuss the molecular and cellular pathways involved in facial and lip myogenesis, muscle anatomy in the normal and cleft lip, and complications following surgery. The aim of this review is to outline a novel molecular and cellular strategy to improve musculature and skin regeneration and to reduce scar formation following cleft repair. Orofacial clefting can be diagnosed in the fetus through prenatal ultrasound screening and allows planning for the harvesting of umbilical cord blood stem cells upon birth. Tissue engineering techniques using these cord blood stem cells and molecular targeting of inflammation and fibrosis during surgery may promote tissue regeneration. We expect that this novel strategy improves both muscle and skin regeneration, resulting in better function and esthetics after cleft repair.
Collapse
Affiliation(s)
- Michaël Schreurs
- Department of Dentistry, Section of Orthodontics and Craniofacial Biology, Radboud University Medical Centre, Nijmegen, The Netherlands
| | - C Maarten Suttorp
- Department of Dentistry, Section of Orthodontics and Craniofacial Biology, Radboud University Medical Centre, Nijmegen, The Netherlands.,Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands
| | | | | | - Johannes W Von den Hoff
- Department of Dentistry, Section of Orthodontics and Craniofacial Biology, Radboud University Medical Centre, Nijmegen, The Netherlands.,Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands
| | - Edwin M Ongkosuwito
- Department of Dentistry, Section of Orthodontics and Craniofacial Biology, Radboud University Medical Centre, Nijmegen, The Netherlands
| | - Paola L Carvajal Monroy
- Department of Oral & Maxillofacial Surgery, Special Dental Care and Orthodontics, Erasmus University Medical Centre, Rotterdam, The Netherlands
| | - Frank A D T G Wagener
- Department of Dentistry, Section of Orthodontics and Craniofacial Biology, Radboud University Medical Centre, Nijmegen, The Netherlands.,Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands
| |
Collapse
|
|
23
|
The prenatal diagnosis and classification of cleft palate: the role and value of magnetic resonance imaging. Eur Radiol 2019; 29:5600-5606. [PMID: 30887208 DOI: 10.1007/s00330-019-06089-9] [Citation(s) in RCA: 21] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/02/2018] [Revised: 01/28/2019] [Accepted: 02/08/2019] [Indexed: 02/08/2023]
Abstract
OBJECTIVE The aim of this study was to evaluate the value of MRI in the prenatal diagnosis and classification of cleft palate (CP). METHODS We collected 94 fetal cases that were suspected of cleft palate with or without cleft lip by prenatal ultrasound (US) and then carried out further MRI to examine the entire body of each fetus within 1 week. The diagnoses resulting from MRI and US examination were compared separately with the final diagnoses obtained from postnatal physical examination or fetal autopsy. The diagnostic accuracy between MRI and US was then determined. RESULTS During the follow-up period, the results for 6 fetuses (6.38%) were lost. Of the remaining 88 cases, the final diagnoses identified 23 cases of cleft lip (CL), 45 cases of unilateral cleft lip with cleft palate (UCLP), 4 cases of median cleft lip with cleft palate (MCLP), 12 cases of bilateral cleft lip with cleft palate (BCLP), 3 cases of unilateral cleft lip and cleft alveolus (CLA), and 1 case of isolated cleft palate (CPO). The total accuracy rate of US was 59.09%, while that of MRI was 92.05%. More importantly, 81 cases were accurately identified by MRI; the accuracy rate for CL, UCLP, MCLP, BCLP, CLA, and CPO was 86.96%, 95.56%, 100%, 91.67%, 66.67%, and 100%, respectively. CONCLUSION Our results suggest that MRI could be a useful adjunct to US examination in the prenatal diagnosis of fetuses with cleft palate, and further demonstrates the classification and degree of involvement of the cleft palate. KEY POINTS • MRI is a useful adjunct to prenatal ultrasound. • MRI has a higher accuracy rate for CP. • The accurate classification of CP diagnosed by MRI can guide clinical management.
Collapse
|
|
24
|
Rüegg EM, Bartoli A, Rilliet B, Scolozzi P, Montandon D, Pittet-Cuénod B. Management of median and paramedian craniofacial clefts. J Plast Reconstr Aesthet Surg 2019; 72:676-684. [PMID: 30691993 DOI: 10.1016/j.bjps.2019.01.001] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/25/2018] [Accepted: 01/06/2019] [Indexed: 11/24/2022]
Abstract
BACKGROUND Median and paramedian craniofacial clefts are associated with hypertelorism, anterior encephalocele, positional abnormalities of the maxilla, and nasal deformity. Cleft lip and palate, eyelid coloboma, and widow's peak are frequently present. METHODS The authors collected data from 30 patients (mean age, 5.8 years; range, 4 months to 18 years) operated between 1986 and 2017 with median or paramedian craniofacial clefts of differing degrees of severity. Malformations of the different anatomic units and their surgical treatment were assessed, as well as complication rates. RESULTS All patients presented nasal malformations and either telecanthus (n = 16) or hypertelorism (n = 14). Most patients (n = 23) had anterior encephalocele. All patients underwent nasal corrections, and most of them had medial canthopexy (n = 24). Excision of encephalocele was associated with fronto-orbital remodeling. Medialization of the orbits was performed in 11 patients, mainly by box shift (n = 9). Patients from outside Switzerland (n = 23) were operated at an older age than those in the native patient group. Because of staged reconstruction, 13 patients had more than one operation. Surgical complications included three infections and one expander exposition. One patient had bone resorption of a frontal bone flap. Nasal correction needed more than one procedure in 5 patients, and medial canthopexy had to be repeated in 7 patients. Esthetic results were satisfactory, permitting social integration. CONCLUSION Median and paramedian craniofacial clefts need adapted and carefully planned corrections respecting the growth of anatomic units. The quality of the medial canthal and nasal reconstruction is to a large extent responsible for the overall result.
Collapse
Affiliation(s)
- Eva Meia Rüegg
- Division of Plastic, Reconstructive and Esthetic Surgery, Department of Surgery, Geneva University Hospitals and Faculty of Medicine, 4 Rue Gabrielle Perret-Gentil, 1211 Geneva 14, Switzerland.
| | - Andrea Bartoli
- Division of Neurosurgery, Geneva University Hospitals and Faculty of Medicine, Geneva, Switzerland
| | - Bénédict Rilliet
- Division of Neurosurgery, Geneva University Hospitals and Faculty of Medicine, Geneva, Switzerland
| | - Paolo Scolozzi
- Division of Maxillofacial Surgery, Department of Surgery, Geneva University Hospitals and Faculty of Medicine, Geneva, Switzerland
| | - Denys Montandon
- Division of Plastic, Reconstructive and Esthetic Surgery, Department of Surgery, Geneva University Hospitals and Faculty of Medicine, 4 Rue Gabrielle Perret-Gentil, 1211 Geneva 14, Switzerland
| | - Brigitte Pittet-Cuénod
- Division of Plastic, Reconstructive and Esthetic Surgery, Department of Surgery, Geneva University Hospitals and Faculty of Medicine, 4 Rue Gabrielle Perret-Gentil, 1211 Geneva 14, Switzerland
| |
Collapse
|
|
25
|
Nicot R, Rotten D, Opdenakker Y, Kverneland B, Ferri J, Couly G, Levaillant JM. Fetal dental panorama on three-dimensional ultrasound imaging of cleft lip and palate and other facial anomalies. Clin Oral Investig 2018; 23:1561-1568. [PMID: 30132143 DOI: 10.1007/s00784-018-2586-8] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/15/2017] [Accepted: 08/17/2018] [Indexed: 12/28/2022]
Abstract
OBJECTIVES Craniofacial deformities have a high psychosocial impact. The aim of this paper is to improve obstetric ultrasonography and prenatal detection of facial anomalies by providing a new fetal dental panorama. MATERIAL AND METHODS The present study describes a new modality to visualize the fetal tooth germs and an easy step-by-step diagnostic approach. Image acquisition was performed between 23 and 32 weeks of gestation using a Voluson E10 GE ultrasound machine with an RM6C transducer (GE Medical Systems, Zipf, Austria). Reconstruction was performed using Omniview from the axial image. Volume contrast imaging (VCI) was used with a thickness of 20 mm, and a render mode that combined "Rx mode" and "surface texture." RESULTS The resulting imaging allows a more precise visualization of the fetal dental arch and can be obtained between 14 and 28 weeks of gestation. The presence of dental anomalies can be a clue for the diagnosis of various congenital defects, in particular conditions with a shortage of other physical abnormalities, such as ectodermal dysplasia and Binder syndrome. CONCLUSIONS The creation of a precise fetal dental panorama allows an improved detection of facial deformities. CLINICAL RELEVANCE With the current paper, we want to increase prenatal diagnostics facial anomalies, and help to establish a tailored multidisciplinary treatment plan. This paper should be of interest to readers who are currently treating patients with craniofacial malformations and readers who are performing diagnostic prenatal sonography.
Collapse
Affiliation(s)
- Romain Nicot
- Center for Woman and Fetal Imaging, F-59800, Lille, France. .,Department of Oral and Maxillofacial Surgery and Stomatology, CHU Lille, F-59000, Lille, France.
| | - Daniel Rotten
- Department of Gynecology and Obstetrics, Hôpital Delafontaine, F-93200, Saint-Denis, France
| | - Yasmin Opdenakker
- Department of Oral and Maxillofacial Surgery, University Hospital Ghent, B-9000, Ghent, Belgium
| | - Bothild Kverneland
- Department of Maxillofacial Surgery, Necker Enfants Malades University Hospital, F-75015, Paris, France
| | - Joël Ferri
- Department of Oral and Maxillofacial Surgery and Stomatology, CHU Lille, F-59000, Lille, France.,International Association of Oral and Maxillofacial Medicine (IAOMM), F-59650, Villeneuve dAscq, France
| | - Gérard Couly
- Center for Woman and Fetal Imaging, F-59800, Lille, France
| | - Jean-Marc Levaillant
- Center for Woman and Fetal Imaging, F-59800, Lille, France.,Hôpital Privé Armand Brillard, Groupe Ramsay Générale de Santé, F-94130, Nogent-sur-Marne, France
| |
Collapse
|
|
26
|
Mak ASL, Leung KY. Prenatal ultrasonography of craniofacial abnormalities. Ultrasonography 2018; 38:13-24. [PMID: 30343558 PMCID: PMC6323313 DOI: 10.14366/usg.18031] [Citation(s) in RCA: 19] [Impact Index Per Article: 2.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/29/2018] [Accepted: 07/03/2018] [Indexed: 01/07/2023] Open
Abstract
Craniofacial abnormalities are common. It is important to examine the fetal face and skull Epub ahead of print during prenatal ultrasound examinations because abnormalities of these structures may indicate the presence of other, more subtle anomalies, syndromes, chromosomal abnormalities, or even rarer conditions, such as infections or metabolic disorders. The prenatal diagnosis of craniofacial abnormalities remains difficult, especially in the first trimester. A systematic approach to the fetal skull and face can increase the detection rate. When an abnormality is found, it is important to perform a detailed scan to determine its severity and search for additional abnormalities. The use of 3-/4-dimensional ultrasound may be useful in the assessment of cleft palate and craniosynostosis. Fetal magnetic resonance imaging can facilitate the evaluation of the palate, micrognathia, cranial sutures, brain, and other fetal structures. Invasive prenatal diagnostic techniques are indicated to exclude chromosomal abnormalities. Molecular analysis for some syndromes is feasible if the family history is suggestive.
Collapse
Affiliation(s)
- Annisa Shui Lam Mak
- Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong SAR, China
| | - Kwok Yin Leung
- Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong SAR, China
| |
Collapse
|
|
27
|
Yang Y, Liu H, Ma R, Jin L. Prevalence of Cleft Lip/Palate in the Fangshan District of Beijing, 2006-2012. Cleft Palate Craniofac J 2018; 55:1296-1301. [PMID: 29601215 DOI: 10.1177/1055665618767115] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/16/2022] Open
Abstract
OBJECTIVE To estimate the cleft lip with or without cleft palate (CL/P) prevalence among births between 2006 and 2012 in Fangshan district of Beijing, China. DESIGN Surveillance data analysis. SETTING All hospitals that provide obstetric services in the district. PATIENTS The CL/P cases presented for this report were from 13 weeks' gestation to 7 days postpartum. MAIN OUTCOME MEASURES The CL/P prevalence was defined as the number of cases per 10 000 births, including live births and stillbirths at 28 weeks' gestation or beyond. RESULTS The overall CL/P prevalence was 18.9 (95% confidence interval [CI]: 15.1-22.7) per 10 000 births. From 2006 to 2012, the CL/P prevalence was 19.3, 20.2, 10.9, 16.1, 17.5, 25.4, and 22.3 per 10 000 births; annually, no significant change was noted ( Pfor trend = .311). The prevalence of cleft palate, cleft lip, and cleft lip and palate were 3.4 (95% CI: 2.0-5.4), 6.2 (95% CI: 4.2-8.8), and 9.4 (95% CI: 6.9-12.4) per 10 000 births, respectively. The CL/P prevalence among the nonpermanent residents (31.4 per 10 000 births) was 2.31 times that of permanent residents (13.6 per 10 000 births). Among nonpermanent residents, the CL/P prevalence showed an upward trend over the study period ( Pfor trend = .036), that increased from 38.8 (95% CI: 16.5-76.6) per 10 000 births in 2006 to 54.6 (95% CI: 25.7-100.4) per 10 000 births in 2012. CONCLUSIONS The overall CL/P prevalence was stable in the Fangshan district. However, the CL/P prevalence of the nonpermanent residents increased significantly.
Collapse
Affiliation(s)
- Yanfen Yang
- 1 Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing, China
| | - Hui Liu
- 2 Maternal and Child Health Hospital, Fangshan District, Beijing, China
| | - Ruixin Ma
- 2 Maternal and Child Health Hospital, Fangshan District, Beijing, China
| | - Lei Jin
- 3 Institute of Reproductive and Child Health / Ministry of Health Key Laboratory of Reproductive Health, Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing, China
| |
Collapse
|
|
28
|
Maarse W, Boonacker CWB, Swanenburg de Veye HFN, Kon M, Breugem CC, Mink van der Molen AB, van Delden JJM. Parental Attitude Toward the Prenatal Diagnosis of Oral Cleft: A Prospective Cohort Study. Cleft Palate Craniofac J 2018; 55:1055665618763337. [PMID: 29561713 DOI: 10.1177/1055665618763337] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/16/2022] Open
Abstract
OBJECTIVES The prenatal diagnosis of oral clefts (OCs) by ultrasound can pose an ethical dilemma. The purpose of this study was to obtain insight into the psychosocial and moral considerations of prospective parents concerning OCs, the burden of OCs and parents' attitude toward possible termination of pregnancy (TOP) in order to improve counseling in the future. DESIGN Between August 2011 and August 2014, a prospective cohort questionnaire study was administered. SETTING Prenatal care clinic of the Wilhelmina's Children hospital, a Tertiary Care Centre. PARTICIPANTS Parents expecting a child with an OC. MAIN OUTCOME MEASURES Expectation of OCs in general and attitudes toward the impact and expected burden of the OC of their child. Furthermore, parents were asked if they had considered TOP. RESULTS Most of the parents described an OC as a cosmetic disability (50.6%) or as "just a little different" (29.4%). These parents expected that the OC would not affect their own happiness and have only minor influence on the happiness of their future child. Health professionals had a considerable influence on parental opinion. A minority (6.4%, 5/85) of the respondents considered TOP, and none of the responders chose to terminate the pregnancy. CONCLUSIONS This study suggests that future parents have very few negative perceptions of OC after prenatal counseling. Caregivers should be aware that their counseling is important for decision-making of parents.
Collapse
Affiliation(s)
- Wies Maarse
- 1 Department of Plastic and Reconstructive Surgery, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands
| | - Chantal W B Boonacker
- 2 Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, The Netherlands
| | - Henriette F N Swanenburg de Veye
- 3 Department of Pediatric Psychology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands
| | - Moshe Kon
- 1 Department of Plastic and Reconstructive Surgery, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands
| | - Corstiaan C Breugem
- 1 Department of Plastic and Reconstructive Surgery, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands
| | - Aebele B Mink van der Molen
- 1 Department of Plastic and Reconstructive Surgery, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands
| | - Johannes J M van Delden
- 2 Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, The Netherlands
| |
Collapse
|
|
29
|
Greives MR, Anderson CL, Dean RA, Scerbo ML, Doringo IL, Bebbington MW, Teichgraeber JF. Survey of Parent Experiences in Prenatal Visits for Infants with Cleft Lip and Palate. Cleft Palate Craniofac J 2017; 54:668-673. [DOI: 10.1597/16-036] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/22/2022] Open
Abstract
Objective The purpose of this study was to identify the factors that influence the parent's choice of cleft team/surgeon. Design A 10-question survey was used to elucidate factors that influenced parents in choosing their cleft surgeon. No identifiers of the origin of the study were used to improve parent objectivity. Setting The setting for this study was an online survey. Participants Participants in this study were the parents of children who were born with cleft lip and/or palate. Interventions Parents were contacted anonymously via national, established social media websites that were independently run by the parents themselves. Main Outcome Measures The main outcome measures were information regarding choice of cleft team/surgeon, source of patient referrals, and use of online media in decision making. Results A total of 112 responses were received. Of the parents, 77% sought prenatal evaluation with at least one cleft surgeon. Maternal-fetal medicine specialists were the most frequent (42%) referral source, followed by primary obstetricians (14%) and pediatricians (12%). The surgeon/cleft team's experience level and overall personality were ranked as the most important, whereas the least important was distance traveled. Of the parents, 95% used the Internet or social media for research prior to their prenatal visit; 96% of the parents found the prenatal visit helpful, and the most useful topics discussed were treatments (surgical, nonsurgical) and feeding techniques. Conclusion This study identifies factors used to choose a cleft team/surgeon. Parents are more concerned with the experience level, reputation, and environment of the cleft team/surgeon than the distance traveled to get to the center.
Collapse
Affiliation(s)
- Matthew R. Greives
- Division of Pediatric Plastic Surgery, Department of Pediatric Surgery, McGovern Medical School at the University of Texas Health Sciences Center at Houston and Children's Memorial Hermann Hospital, Houston, Texas
| | - Casey L. Anderson
- Department of General Surgery, McGovern Medical School at the University of Texas Health Sciences Center at Houston, Houston, Texas
| | - Riley A. Dean
- Medical Student, Division of Pediatric Plastic Surgery, Department of Pediatric Surgery, McGovern Medical School at the University of Texas Health Sciences Center at Houston and Children's Memorial Hermann Hospital, Houston, Texas
| | - Michelle L. Scerbo
- Department of General Surgery, McGovern Medical School at the University of Texas Health Sciences Center at Houston, Houston, Texas
| | - Irene L. Doringo
- Cleft Team Coordinator, Division of Pediatric Plastic Surgery, Department of Pediatric Surgery, McGovern Medical School at the University of Texas Health Sciences Center at Houston and Children's Memorial Hermann Hospital, Houston, Texas
| | - Michael W. Bebbington
- Division of Maternal Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, McGovern Medical School at the University of Texas Health Sciences Center at Houston and the Fetal Center at Children's Memorial Hermann Hospital, Houston, Texas
| | - John F. Teichgraeber
- Division of Pediatric Plastic Surgery, Department of Pediatric Surgery, McGovern Medical School at the University of Texas Health Sciences Center at Houston and Children's Memorial Hermann Hospital, Houston, Texas
| |
Collapse
|
|
30
|
Smarius B, Loozen C, Manten W, Bekker M, Pistorius L, Breugem C. Accurate diagnosis of prenatal cleft lip/palate by understanding the embryology. World J Methodol 2017; 7:93-100. [PMID: 29026689 PMCID: PMC5618146 DOI: 10.5662/wjm.v7.i3.93] [Citation(s) in RCA: 42] [Impact Index Per Article: 5.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/15/2016] [Revised: 05/09/2017] [Accepted: 05/31/2017] [Indexed: 02/06/2023] Open
Abstract
Cleft lip with or without cleft palate (CP) is one of the most common congenital malformations. Ultrasonographers involved in the routine 20-wk ultrasound screening could encounter these malformations. The face and palate develop in a very characteristic way. For ultrasonographers involved in screening these patients it is crucial to have a thorough understanding of the embryology of the face. This could help them to make a more accurate diagnosis and save time during the ultrasound. Subsequently, the current postnatal classification will be discussed to facilitate the communication with the CP teams.
Collapse
Affiliation(s)
- Bram Smarius
- Division of Pediatric Plastic Surgery, Cleft Palate Team, Wilhelmina Children’s Hospital, 3584 EA Utrecht, The Netherlands
| | - Charlotte Loozen
- Division of Pediatric Plastic Surgery, Cleft Palate Team, Wilhelmina Children’s Hospital, 3584 EA Utrecht, The Netherlands
| | - Wendy Manten
- Division of Gynecology and Obstetrics, Wilhelmina Children’s Hospital, 3584 EA Utrecht, The Netherlands
| | - Mireille Bekker
- Division of Gynecology and Obstetrics, Wilhelmina Children’s Hospital, 3584 EA Utrecht, The Netherlands
| | - Lou Pistorius
- Division of Gynecology and Obstetrics, Stellenbosch University and Tygerberg Hospital, Cape Town 7500, South Africa
| | - Corstiaan Breugem
- Division of Pediatric Plastic Surgery, Cleft Palate Team, Wilhelmina Children’s Hospital, 3584 EA Utrecht, The Netherlands
| |
Collapse
|
|
31
|
Lakshmy SR, Deepa S, Rose N, Mookan S, Agnees J. First-Trimester Sonographic Evaluation of Palatine Clefts: A Novel Diagnostic Approach. JOURNAL OF ULTRASOUND IN MEDICINE : OFFICIAL JOURNAL OF THE AMERICAN INSTITUTE OF ULTRASOUND IN MEDICINE 2017; 36:1397-1414. [PMID: 28417474 DOI: 10.7863/ultra.16.05084] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 05/29/2016] [Accepted: 09/15/2016] [Indexed: 06/07/2023]
Abstract
OBJECTIVES Sonographic evaluation of the palate is a difficult task, and most palatine clefts are diagnosed in the neonatal period because of the limitations of 2-dimensional (2D) sonography. The objective is to describe a sonographic technique based on 2D markers for screening of palatine clefts during the nuchal translucency scan and to assess the ability of 3-dimensional (3D) sonography in imaging the normal and abnormal palate. METHODS A total of 2014 women who enrolled for first-trimester screening were included in this prospective study. Screening for palatine clefts was done by 2D evaluation of bony landmarks of the palate, which were the appearance of the palatal line in the sagittal view, retronasal triangle in the coronal view, and alveolar ridge of the maxilla in the axial view followed, by 3D evaluation in suspicious cases. All cases included in the study were followed by second-trimester anomaly scans and evaluated postnatally. Additionally, in 100 consecutive normal cases, 3D evaluation of the palate was done. RESULTS Visualization of 2D landmarks could be done in all, and 3D assessment was feasible in 94% of cases. Fourteen cases, of which 5 were unilateral, 4 bilateral, and 2 median cleft lip and palate, 2 median cleft palate, and 1 atypical palatine cleft were identified. There were no false-positives results reported, and 1 case of a bifid uvula was missed. CONCLUSIONS The study demonstrates that evaluation of the palate can be done at the 11 to 14 week scan based on 2D markers and can also be assessed with 3D sonography. The inclusion of 2D markers in all 3 planes increases the sensitivity for detection of palatine clefts.
Collapse
Affiliation(s)
| | - Selvaraj Deepa
- Department of Conservative Dentistry and Endodontics, Rajah Muthiah Dental College, Annamalai University, Chidambaram, India
| | - Nity Rose
- Shri Lakshmi Scan Center, Kaveripattinam, India
| | - Senthilkumar Mookan
- Department of Radiology, Vinayaka Mission's Kirupananda Variyar Medical College and Hospitals, Salem, India
| | - Joy Agnees
- Department of Radiology, Vinayaka Mission's Kirupananda Variyar Medical College and Hospitals, Salem, India
| |
Collapse
|
|
32
|
Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses. Clin Dysmorphol 2017; 26:18-25. [PMID: 27749392 DOI: 10.1097/mcd.0000000000000152] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/26/2022]
Abstract
Orofacial clefts are the most common congenital craniofacial anomalies and can occur as an isolated defect or be associated with other anomalies such as posterior fossa anomalies as a part of several genetic syndromes. We report two consecutive voluntary pregnancy interruptions in a nonconsanguineous couple following the fetal ultrasound finding of cleft lip and palate and posterior fossa anomalies confirmed by means of post-termination examination on the second fetus. The quantitative fluorescent PCR, the karyotype, and the comparative genomic hybridization-array analysis after amniocentesis were normal. Exome sequencing on abortive material from both fetuses detected a missense mutation in MID1, resulting in a clinical diagnosis of Opitz G/BBB syndrome. The same mutation was found in the mother and in her brother, who both revealed cerebellar anomalies at an MRI examination. Our study supports the efficacy of exome sequencing in the presence of both a family history suggestive of an inherited disorder and well-documented ultrasound findings. It reveals the importance of a synergistic effort between gynecologists and geneticists aimed at the integration of the most sophisticated ultrasound techniques with the next-generation sequencing tools to provide a definite diagnosis essential to orient the final decision and to estimate a proper recurrence risk.
Collapse
|
|
33
|
Depla AL, Breugem CC, van der Horst CMAM, de Heus R, van den Boogaard MJH, Maas SM, Pajkrt E, Bekker MN. Polyhydramnios in isolated oral cleft pregnancies: incidence and outcome in a retrospective study. Prenat Diagn 2017; 37:162-167. [DOI: 10.1002/pd.4983] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/11/2016] [Revised: 12/04/2016] [Accepted: 12/06/2016] [Indexed: 11/08/2022]
Affiliation(s)
- Anne L. Depla
- Department of Obstetrics and Gynecology; University Medical Center Utrecht; Utrecht The Netherlands
| | - Corstiaan C. Breugem
- Department of Plastic and Reconstructive Surgery, Wilhelmina Children's Hospital; University Medical Center Utrecht; Utrecht The Netherlands
| | | | - Roel de Heus
- Department of Obstetrics and Gynecology; University Medical Center Utrecht; Utrecht The Netherlands
| | | | - Saskia M. Maas
- Department of Clinical Genetics; Academic Medical Center; Amsterdam The Netherlands
- Department of Pediatrics; Academic Medical Center; Amsterdam The Netherlands
| | - Eva Pajkrt
- Department of Obstetrics and Gynecology; Academic Medical Center; Amsterdam The Netherlands
| | - Mireille N. Bekker
- Department of Obstetrics and Gynecology; University Medical Center Utrecht; Utrecht The Netherlands
| |
Collapse
|
|
34
|
Berniczei-Roykó Á, Tappe JH, Krinner A, Gredes T, Végh A, Gábor K, Linkowska-Świdzińska K, Botzenhart UU. Radiographic Study of the Prevalence and Distribution of Hypodontia Associated with Unilateral and Bilateral Clef Lip and Palate in a Hungarian Population. Med Sci Monit 2016; 22:3868-3885. [PMID: 27767023 PMCID: PMC5077290 DOI: 10.12659/msm.897957] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/22/2022] Open
Abstract
Background Cleft defects are one of the most frequent birth-deformities of the orofacial region and they are commonly associated with anomalies of the tooth structure, size, shape, formation, eruption, and tooth number. The aim of our study was to evaluate the prevalence, distribution, and potential association of combined hypodontia in cleft-affected patients with regard to all types of teeth in both jaws in the permanent dentition. Material/Methods This retrospective radiographic analysis included patients with various types of clefts treated orthodontically in the Department of Orofacial Orthopedics and Orthodontics at Heim Pàl Children’s Hospital, Budapest. There were 150 patients (84 males, 66 females) with non-syndromic unilateral (UCLP; n=120 patients) or bilateral (BCLP; n=30 patients) cleft formation (lip, alveolus and palate) who met the inclusion criteria. Statistical analysis was performed using the chi-square test and Fisher’s exact test (significance level p<0.05). Results Hypodontia was significantly more frequent in patients with cleft-sided lateral incisor (104 patients, 69%), with a total of 235 missing teeth, followed by the second premolars of the upper and lower jaw. A significant correlation of congenital missing teeth was observed in left-sided clefts between the upper and lower second premolar in the cleft area. Conclusions Hypodontia inside and outside the cleft area was frequently observed. This should affect the therapy plans, especially if the cleft-sided premolar is also absent. Further comprehensive research including numerous random samples is necessary for better estimating other possible associations.
Collapse
Affiliation(s)
- Ádám Berniczei-Roykó
- Department of Orthodontics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany
| | - Jan-Hendrik Tappe
- Department of Orthodontics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany
| | - Axel Krinner
- Institute for Medical Informatics and Biometry (IMB), Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany
| | - Tomasz Gredes
- Department of Orthodontics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany
| | - András Végh
- Department of Orofacial Orthopedics and Orthodontics, Heim Pàl Children's Hospital, Budapest, Hungary
| | - Katona Gábor
- Department of Oto-Rhino-Laryngology and Bronchology, Heim Pàl Children's Hospital, Budapest, Hungary
| | | | - Ute Ulrike Botzenhart
- Department of Orthodontics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany
| |
Collapse
|
|
35
|
Fleurke-Rozema JH, van de Kamp K, Bakker MK, Pajkrt E, Bilardo CM, Snijders RJM. Prevalence, diagnosis and outcome of cleft lip with or without cleft palate in The Netherlands. ULTRASOUND IN OBSTETRICS & GYNECOLOGY : THE OFFICIAL JOURNAL OF THE INTERNATIONAL SOCIETY OF ULTRASOUND IN OBSTETRICS AND GYNECOLOGY 2016; 48:458-463. [PMID: 26663260 DOI: 10.1002/uog.15834] [Citation(s) in RCA: 20] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 08/28/2015] [Revised: 11/05/2015] [Accepted: 11/30/2015] [Indexed: 06/05/2023]
Abstract
OBJECTIVE To examine the accuracy and timing of diagnosis of fetal cleft lip with or without cleft palate (CL ± P) in the years following the introduction of a national screening program, and to assess the completeness and accuracy of information in The Netherlands Perinatal Registry. METHODS A list was obtained of cases with a prenatal or postnatal diagnosis of CL ± P from two fetal medicine units between 2008 and 2012. All cases of CL ± P were included irrespective of the presence or absence of additional anomalies. Cases were included if the estimated date of delivery was between 1 January 2008 and 31 December 2012. RESULTS During the study period, 330 cases of CL ± P were identified, with a prevalence of 15 per 10 000 pregnancies. The number of cases that were detected before 24 weeks' gestation increased during the study period, while the rate of termination of pregnancy did not change significantly (P = 0.511). CL ± P was isolated in 217 (66%) cases and karyotype was abnormal in 69 (21%) cases. In 5% of the cases in which CL ± P seemed to be isolated during the 18-23-week anomaly scan, postnatal array comparative genomic hybridization (array-CGH) revealed an abnormal karyotype and 50% of these cases had major additional anomalies. Examination of data from The Netherlands Perinatal Registry demonstrated that in 37% of cases CL±P was not recorded in the pregnancy records. CONCLUSION CL ± P is increasingly being diagnosed prenatally, without a significant effect on the rate of pregnancy termination. Further improvement in the diagnostic accuracy may be achieved by advocating prenatal array-CGH to reduce the frequency of unexpected anomalies being diagnosed after birth. It is important that healthcare providers register accurately the presence or absence of anomalies in the birth records to ensure that, in the future, data from The Netherlands Perinatal Registry can be relied upon to monitor prevalence. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.
Collapse
Affiliation(s)
- J H Fleurke-Rozema
- Department of Obstetrics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
| | - K van de Kamp
- Department of Obstetrics, University Medical Centre Amsterdam, Amsterdam, The Netherlands
| | - M K Bakker
- Department of Obstetrics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
| | - E Pajkrt
- Department of Obstetrics, University Medical Centre Amsterdam, Amsterdam, The Netherlands
| | - C M Bilardo
- Department of Obstetrics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
| | - R J M Snijders
- Department of Obstetrics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
| |
Collapse
|
|
36
|
Levaillant JM, Nicot R, Benouaiche L, Couly G, Rotten D. Prenatal diagnosis of cleft lip/palate: The surface rendered oro-palatal (SROP) view of the fetal lips and palate, a tool to improve information-sharing within the orofacial team and with the parents. J Craniomaxillofac Surg 2016; 44:835-42. [DOI: 10.1016/j.jcms.2016.04.006] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/26/2016] [Revised: 02/19/2016] [Accepted: 04/06/2016] [Indexed: 10/21/2022] Open
|
|
37
|
Median cleft of the upper lip: A new classification to guide treatment decisions. J Craniomaxillofac Surg 2016; 44:664-71. [DOI: 10.1016/j.jcms.2016.02.012] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/25/2015] [Revised: 02/15/2016] [Accepted: 02/25/2016] [Indexed: 11/20/2022] Open
|
|
38
|
Chang WJ, See LC, Lo LJ. Time trend of incidence rates of cleft lip/palate in Taiwan from 1994 to 2013. Biomed J 2016; 39:150-4. [PMID: 27372171 PMCID: PMC6140296 DOI: 10.1016/j.bj.2015.10.003] [Citation(s) in RCA: 18] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/20/2015] [Accepted: 10/05/2015] [Indexed: 11/30/2022] Open
Abstract
Background This study was to estimate the incidence rate of cleft lip and/or cleft palate (CL/P) in Taiwan from 1994 to 2013, and to assess the time trend over these years. Methods Retrospective data analysis was performed on records of all newborns with CL/P treated at Chang Gung Craniofacial Center, the only treatment center for CL/P in Taiwan, from 1994 to 2013. Three-year moving average rates were computed and linear regression was used to explore the annual average percentage change. Results From 1994 to 2013, 7282 newborns with CL/P were identified, corresponding to an annual rate of 1.48‰ (95% confidence interval (CI) = 1.45‰–1.52‰). There was a significant decline of rate of cleft lip with or without cleft palate (CL ± P) (−2.9% ± 0.2%, p < 0.0001) but slightly increase of rate of cleft palate (CP) only (+0.2% ± 0.07%, p = 0.004). Conclusion From 1994 to 2013, the annual rate of incidence of CL/P was 1.48‰ in Taiwan. The 2.9% annual decline of the rate was mainly from the CL ± P group, not the CP group.
Collapse
Affiliation(s)
- Wei-Jung Chang
- Department of Surgery, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan, ROC
| | - Lai-Chu See
- Department of Public Health, College of Medicine, Chang Gung University, Taoyuan, Taiwan, ROC; Biostatistics Core Laboratory, Molecular Medicine Research Center, Chang Gung University, Taoyuan, Taiwan, ROC
| | - Lun-Jou Lo
- Department of Plastic and Reconstructive Surgery, and Chang Gung Craniofacial Research Center, Chang Gung Memorial Hospital at Linkou, Chang Gung University, Taoyuan, Taiwan, ROC.
| |
Collapse
|
|
39
|
The Importance of Multidisciplinary Management during Prenatal Care for Cleft Lip and Palate. Arch Plast Surg 2016; 43:153-9. [PMID: 27019808 PMCID: PMC4807170 DOI: 10.5999/aps.2016.43.2.153] [Citation(s) in RCA: 12] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/11/2015] [Revised: 12/22/2015] [Accepted: 12/28/2015] [Indexed: 11/22/2022] Open
Abstract
Background The prenatal ultrasound detection of cleft lip with or without cleft palate (CL/P) and its continuous management in the prenatal, perinatal, and postnatal periods using a multidisciplinary team approach can be beneficial for parents and their infants. In this report, we share our experiences with the prenatal detection of CL/P and the multidisciplinary management of this malformation in our institution's Congenital Disease Center. Methods The multidisciplinary team of the Congenital Disease Center for mothers of children with CL/P is composed of obstetricians, plastic and reconstructive surgeons, pediatricians, and psychiatrists. A total of 11 fetuses were diagnosed with CL/P from March 2009 to December 2013, and their mothers were referred to the Congenital Disease Center of our hospital. When CL/P is suspected in the prenatal ultrasound screening examination, the pregnant woman is referred to our center for further evaluation. Results The abortion rate was 28% (3/11). The concordance rate of the sonographic and final diagnoses was 100%. Ten women (91%) reported that they were satisfied with the multidisciplinary management in our center. Conclusions Although a child with a birth defect is unlikely to be received well, the women whose fetuses were diagnosed with CL/P on prenatal ultrasound screening and who underwent multidisciplinary team management were more likely to decide to continue their pregnancy.
Collapse
|
|
40
|
Corrélation anté- et postnatale dans le cadre de fentes du palais primaires ou secondaires : étude rétrospective de 44 cas. ACTA ACUST UNITED AC 2015; 43:767-72. [DOI: 10.1016/j.gyobfe.2015.10.009] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/25/2015] [Accepted: 10/12/2015] [Indexed: 11/21/2022]
|
|
41
|
|
|
42
|
Maarse W, Boonacker CWB, Breugem CC, Kon M, Manten GTR, Mink van der Molen AB. A practical prenatal ultrasound classification system for common oral clefts. Prenat Diagn 2015; 35:894-900. [DOI: 10.1002/pd.4631] [Citation(s) in RCA: 9] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/11/2022]
Affiliation(s)
- Wiesje Maarse
- Department of Plastic and Reconstructive Surgery, Wilhelmina Children's Hospital; University Medical Center Utrecht; Utrecht the Netherlands
| | - Chantal W. B. Boonacker
- Julius Center for Health Sciences and Primary Care; University Medical Center Utrecht; Utrecht the Netherlands
| | - Corstiaan C. Breugem
- Department of Plastic and Reconstructive Surgery, Wilhelmina Children's Hospital; University Medical Center Utrecht; Utrecht the Netherlands
| | - Moshe Kon
- Department of Plastic and Reconstructive Surgery, Wilhelmina Children's Hospital; University Medical Center Utrecht; Utrecht the Netherlands
| | - Gwendolyn T. R. Manten
- Department of Obstetrics and Gynecology, Fetal Medicine Unit, Wilhelmina Children's Hospital; University Medical Center Utrecht; Utrecht the Netherlands
| | - Aebele B. Mink van der Molen
- Department of Plastic and Reconstructive Surgery, Wilhelmina Children's Hospital; University Medical Center Utrecht; Utrecht the Netherlands
| |
Collapse
|
|
43
|
Loozen CS, Maarse W, Manten GTR, Pistorius L, Breugem CC. The accuracy of prenatal ultrasound in determining the type of orofacial cleft. Prenat Diagn 2015; 35:652-5. [DOI: 10.1002/pd.4582] [Citation(s) in RCA: 14] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/05/2014] [Revised: 02/14/2015] [Accepted: 02/17/2015] [Indexed: 11/12/2022]
Affiliation(s)
- C. S. Loozen
- Division of pediatric plastic surgery; Wilhelmina Children's Hospital; Utrecht The Netherlands
| | - W. Maarse
- Division of pediatric plastic surgery; Wilhelmina Children's Hospital; Utrecht The Netherlands
| | - G. T. R. Manten
- Department of Obstetrics and Gynecology; University Medical Center Utrecht; Utrecht The Netherlands
| | - L. Pistorius
- Department of Obstetrics and Gynecology; University Medical Center Utrecht; Utrecht The Netherlands
| | - C. C. Breugem
- Division of pediatric plastic surgery; Wilhelmina Children's Hospital; Utrecht The Netherlands
| |
Collapse
|
|
44
|
Maarse W, Boonacker CWB, Lapid O, Swanenburg De Veye HFN, Weiner Z, Kon M, van Delden JJM, Mink van der Molen AB. Professional opinion on oral cleft during pregnancy: a comparison between Israel and The Netherlands. Prenat Diagn 2015; 35:544-8. [PMID: 25641702 DOI: 10.1002/pd.4570] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/21/2014] [Revised: 12/07/2014] [Accepted: 01/25/2015] [Indexed: 11/06/2022]
Abstract
OBJECTIVE The aim of this study was to assess the opinion of obstetric care providers who perform prenatal ultrasounds to screen for anomalies and who advise women about their options, including termination of pregnancy, when an oral cleft is detected. We compared providers' opinions about pregnancy termination for isolated oral cleft in The Netherlands, where the number of terminations is low, and in Israel, where the number is high. METHODS Online questionnaires were used. The questions assessed the providers' views regarding the estimated burden of treatment, the functioning ability, and the level of happiness of children with an oral cleft and their parents. Additionally, we assessed providers' opinions on pregnancy termination for isolated oral cleft. RESULTS In The Netherlands, more professionals considered oral cleft a disability (rate differences 17.8%, 95% confidence interval: 0.5-33.1%) than in Israel. In the Netherlands, 10.6% of respondents (compared with 11.1% in Israel) thought that an isolated cleft was a reason for terminations of pregnancy (TOP) (rate differences 0.6%, 95% confidence interval: -12% to 10.9%). CONCLUSIONS Prenatal care providers in The Netherlands and Israel do not differ in their opinions about the severity of oral cleft and the acceptability of TOP for an isolated oral cleft. This study shows that prenatal care providers' attitudes do therefore not explain the dramatic difference between these countries in the number of TOP for isolated oral cleft.
Collapse
Affiliation(s)
- Wies Maarse
- Department of Plastic and Reconstructive Surgery, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands
| | - Chantal W B Boonacker
- Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, The Netherlands
| | - Oren Lapid
- Department of Plastic and Reconstructive Surgery, Academic Medical Center, Amsterdam, The Netherlands
| | | | - Zeev Weiner
- Department of Obstetrics and Gynecology, Rambam Medical Center, Haifa, Israel
| | - Moshe Kon
- Department of Plastic and Reconstructive Surgery, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands
| | - Johannes J M van Delden
- Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, The Netherlands
| | - Aebele B Mink van der Molen
- Department of Plastic and Reconstructive Surgery, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands
| |
Collapse
|
|
45
|
Prenatal indices for mandibular retrognathia/micrognathia. J Orofac Orthop 2015; 76:30-40. [DOI: 10.1007/s00056-014-0257-1] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/28/2013] [Accepted: 01/16/2014] [Indexed: 10/24/2022]
|
|
46
|
Szczałuba K, Nowakowska BA, Sobecka K, Smyk M, Castaneda J, Dudkiewicz Z, Kutkowska-Kaźmierczak A, Sąsiadek MM, Śmigiel R, Bocian E. High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate. Neonatology 2015; 107:173-8. [PMID: 25613075 DOI: 10.1159/000368878] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/18/2014] [Accepted: 09/30/2014] [Indexed: 11/19/2022]
Abstract
Cleft lip with or without cleft palate is one of the most common birth defects of unknown etiology. A fraction of its genetic causes is attributable to copy number variations detected by array comparative genomic hybridization. The value of array comparative genomic hybridization screening as a first-tier test in the newborn population with multiple congenital anomalies has now been accepted. Due to unspecific clinical picture at this age, it can also be applied to neonates with isolated anomalies. Our purpose was to assess utility of array comparative genomic hybridization in the population of newborns with isolated cleft lip and palate. We conducted the study in a group of 52 Polish newborns with apparently isolated cleft lip and palate. In the study group, we found 8 rearrangements. Of these, 2 de novo events have been noted that potentially explain the phenotype. In addition, 2 novel candidate genes for cleft lip and palate, CHN2 and CDH19, are suggested. Given the high number of inherited potentially benign changes, we question the clinical utility of array comparative genomic hybridization in the newborn population with isolated cleft lip and palate, at the same time pointing to the need of skilled professional's clinical assessment at a later age. However, the value of this technology in searching for the cause of isolated anomalies cannot be underestimated.
Collapse
Affiliation(s)
- Krzysztof Szczałuba
- Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
| | | | | | | | | | | | | | | | | | | |
Collapse
|
|
47
|
Ensing S, Kleinrouweler CE, Maas SM, Bilardo CM, Van der Horst CMAM, Pajkrt E. Influence of the 20-week anomaly scan on prenatal diagnosis and management of fetal facial clefts. ULTRASOUND IN OBSTETRICS & GYNECOLOGY : THE OFFICIAL JOURNAL OF THE INTERNATIONAL SOCIETY OF ULTRASOUND IN OBSTETRICS AND GYNECOLOGY 2014; 44:154-159. [PMID: 24375841 DOI: 10.1002/uog.13291] [Citation(s) in RCA: 27] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 08/21/2013] [Revised: 12/04/2013] [Accepted: 12/11/2013] [Indexed: 06/03/2023]
Abstract
OBJECTIVE To investigate trends in prenatal diagnosis and termination of pregnancy rates in cases of fetal cleft lip with or without cleft palate (CL ± P), before and after the introduction in The Netherlands of the 20-week anomaly scan in 2007, and to assess the accuracy of this scan for the diagnosis of facial clefts. METHODS This was a retrospective cohort study of consecutive cases of CL ± P diagnosed in 2001-2010 in the referral region of the Academic Medical Centre. Cases diagnosed prenatally were identified from the hospital's database. These data, grouped according to the periods before and after the introduction of the routine 20-week anomaly scan, were compared with data of all cases managed by the multidisciplinary cleft team, which services the same region, to identify cases of CL ± P that were not seen prenatally. RESULTS We identified 123 cases of CL ± P diagnosed prenatally, of which 76% (93/123) were diagnosed before 24 weeks. In one case, the CL ± P was not confirmed after birth. There were 46 cases with associated structural anomalies and 76 isolated cases. The median gestational age at diagnosis decreased by 2 weeks after 2007 (P = 0.02). The proportion of isolated clefts detected prenatally increased significantly after 2007 (P < 0.0001), whereas the proportion of associated clefts remained stable over the years (P = 0.426). The overall detection rate of CL ± P increased from 43% before 2007 to 86% after 2007 (P < 0.0001), without an increase in terminations of pregnancy. CONCLUSION Introduction of the routine fetal anomaly scan has decreased the gestational age at diagnosis of CL ± P and has increased the proportion diagnosed prenatally, without a significant change in the number of terminations of pregnancy.
Collapse
Affiliation(s)
- S Ensing
- Academic Medical Centre, Department of Obstetrics and Gynecology, Amsterdam, The Netherlands
| | | | | | | | | | | |
Collapse
|
|
48
|
Burnell L, Verchere C, Pugash D, Loock C, Robertson S, Lehman A. Additional post-natal diagnoses following antenatal diagnosis of isolated cleft lip +/− palate. Arch Dis Child Fetal Neonatal Ed 2014; 99:F286-90. [PMID: 24625434 DOI: 10.1136/archdischild-2013-305390] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/04/2022]
Abstract
INTRODUCTION Cleft lip with or without palate (CLP) can be diagnosed antenatally through ultrasound, and may be categorised as apparently isolated versus associated with other malformations. Limited data exist on the long-term outcomes following antenatal diagnosis of apparently isolated CLP. AIM This study examined the long-term post-natal outcomes of CLP when found in isolation antenatally, in order to determine the rates of unexpected additional anomalies, developmental delay or genetic syndromes. PATIENTS AND METHODS A retrospective chart review of antenatal and post-natal medical charts was completed for a ten-year period between January 2000 and December 2009. At least 2 years of available post-natal clinical information was required for inclusion in the study. RESULTS A total of 97 cases of antenatally isolated CLP were ascertained. Fifteen pregnancies were terminated. Follow-up data were available for 81 liveborns, though 4 were lost to follow-up prior to 2 years of age. Twelve of the 77 children meeting study criteria were identified to have other major malformations and/or developmental disability either later in the pregnancy or post-natally. Findings included familial clefting syndromes, trisomy 21, autism spectrum disorders, brain malformations, fetal alcohol syndrome and Kabuki syndrome, among other findings. Another 11 children had additional anomalies of minor impact. Examples of findings include a perimembranous ventricular septal defect, mild unilateral optic nerve hypoplasia, mild pulmonary artery stenosis with a small atrial septal defect, and transient delays in fine and gross motor skills. No children with clefting of the lip only had major additional diagnoses.
Collapse
|
|
49
|
Zajicek M, Achiron R, Weisz B, Shrim A, Gindes L. Sonographic assessment of fetal secondary palate between 12 and 16 weeks of gestation using three-dimensional ultrasound. Prenat Diagn 2013; 33:1256-9. [DOI: 10.1002/pd.4242] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/12/2013] [Revised: 09/09/2013] [Accepted: 09/19/2013] [Indexed: 11/10/2022]
Affiliation(s)
- Michal Zajicek
- Department of Obstetrics and Gynecology; The Chaim Sheba Medical Center; Ramat-Gan Israel
| | - Reuven Achiron
- Department of Obstetrics and Gynecology; The Chaim Sheba Medical Center; Ramat-Gan Israel
| | - Boaz Weisz
- Department of Obstetrics and Gynecology; The Chaim Sheba Medical Center; Ramat-Gan Israel
| | - Alon Shrim
- Department of Obstetrics and Gynecology; The Chaim Sheba Medical Center; Ramat-Gan Israel
| | - Liat Gindes
- Department of Obstetrics and Gynecology; The Chaim Sheba Medical Center; Ramat-Gan Israel
| |
Collapse
|
|
50
|
Fetal uvula: navigating and lightening the soft palate using HDlive. Arch Gynecol Obstet 2013; 288:239-44. [PMID: 23689737 DOI: 10.1007/s00404-013-2888-7] [Citation(s) in RCA: 9] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/05/2013] [Accepted: 05/04/2013] [Indexed: 12/18/2022]
|