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Kähler C, Faber R, Geipel A, Heling KS, Kagan KO, Kozlowski P, Schramm T. DEGUM Recommendations on Diagnostic Puncture in Prenatal Medicine. ULTRASCHALL IN DER MEDIZIN (STUTTGART, GERMANY : 1980) 2023; 44:269-279. [PMID: 36882109 DOI: 10.1055/a-2014-4505] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 06/08/2023]
Abstract
Diagnostic puncture (amniocentesis, chorionic villus sampling, and fetal blood sampling) is an essential part of prenatal diagnostics and the only established and sufficiently scientifically evaluated possibility of diagnosing genetic diseases from pregnancy-specific cells. The number of diagnostic punctures in Germany, as in other countries, has fallen significantly. This is largely due to the introduction of first-trimester screening with further detailed ultrasound examination of the fetus and the analysis of cf-DNA (cell-free DNA) from maternal blood (noninvasive prenatal test - NIPT). On the other hand, knowledge about the incidence and appearance of genetic diseases has increased. The development of modern molecular genetic techniques (microarray and exome analysis) makes a differentiated investigation of these diseases increasingly possible. The requirements for education and counseling regarding these complex correlations have thus increased. The studies performed in recent years make it clear that diagnostic puncture performed in expert centers is associated with a low risk of complications. In particular, the procedure-related miscarriage risk hardly differs from the background risk for spontaneous abortion. In 2013, the Section of Gynecology and Obstetrics of the German Society for Ultrasound in Medicine (DEGUM) published recommendations on diagnostic puncture in prenatal medicine 1. The developments described above and new findings in recent years make it necessary to revise and reformulate these recommendations. The aim of this review is to compile important and current facts regarding prenatal medical puncture (including technique, complications, genetic examinations). It is intended to provide basic, comprehensive, and up-to-date information on diagnostic puncture in prenatal medicine. It replaces the publication from 2013 1.
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Affiliation(s)
| | - Renaldo Faber
- Leipzig, Center of Prenatal Medicine, Leipzig, Germany
| | - Annegret Geipel
- Department of Obstetrics and Prenatal Medicine, University Hospital Bonn, Bonn, Germany
| | - Kai-Sven Heling
- Obst Gyn, Prenatal Diagnosis and Human Genetics, Berlin, Germany
| | | | - Peter Kozlowski
- Prenatal Medicine and Human Genetics, praenatal.de, Duesseldorf, Germany
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2
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Vakili S, Torabinavid P, Tabrizi R, Shojazadeh A, Asadi N, Hessami K. The Association of Inflammatory Biomarker of Neutrophil-to-Lymphocyte Ratio with Spontaneous Preterm Delivery: A Systematic Review and Meta-analysis. Mediators Inflamm 2021; 2021:6668381. [PMID: 33603568 PMCID: PMC7870293 DOI: 10.1155/2021/6668381] [Citation(s) in RCA: 13] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/13/2020] [Revised: 12/29/2020] [Accepted: 01/19/2021] [Indexed: 01/03/2023] Open
Abstract
BACKGROUND Neutrophil-to-lymphocyte ratio (NLR), as an inflammatory biomarker, has been investigated in several studies for early prediction of preterm delivery. However, their findings seem to be controversial. Thus, this systematic review and meta-analysis was conducted to evaluate the role of NLR in predicting preterm delivery as compared to term controls. METHODS PubMed, Web of Science, Embase, Scopus, and Google Scholar were systematically searched from inception up to December 2020. Interstudy heterogeneity was assessed using Cochrane's Q test and the I 2 statistic. The random-effects model was employed to pool the weighted mean differences (WMDs) and the corresponding 95% confidence intervals (CIs). RESULTS Out of a total of 4369 recodes, fifteen articles including 3327 participants were enrolled. The meta-analysis finding using the random-effects model produced a pooled estimate suggesting a significantly higher NLR (WMD = 1.23, 95% CI: 0.40-2.07) in women with preterm delivery (P = 0.01). We found significant heterogeneity across the included studies (P < 0.001, I 2 = 92.33%). However, interstudy heterogeneity exists mainly due to differences in the definition of preterm delivery (I 2 = 0.0%). In the metaregression analysis, there was no significant effect of publication year (B = -0.288, P = 0.088), total sample size (B = -0.002, P = 0.276), and the mean age of cases (B = -0.06, P = 0.692) on the association between NLR and preterm delivery. CONCLUSION The results of this meta-analysis revealed that the NLR value is higher in patients with preterm delivery. The NLR could be a useful biomarker for predicting preterm delivery; however, further prospective case-control studies are required to produce stronger evidence.
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Affiliation(s)
- Sina Vakili
- Infertility Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
| | - Parham Torabinavid
- Pediatric Urology and Regenerative Medicine Research Center, Section of Tissue Engineering and Stem Cells Therapy, Children's Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran
| | - Reza Tabrizi
- Non-Communicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran
- Clinical Research Development Unit of Vali Asr Hospital, Fasa University of Medical Sciences, Fasa, Iran
- Health Policy Research Center, Institute of Health, Shiraz University of Medical Sciences, Shiraz, Iran
| | - Alireza Shojazadeh
- Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran
| | - Nasrin Asadi
- Maternal-Fetal Medicine Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
| | - Kamran Hessami
- Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran
- Maternal-Fetal Medicine Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
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Thorpe RK, Smith RJH. Future directions for screening and treatment in congenital hearing loss. PRECISION CLINICAL MEDICINE 2020; 3:175-186. [PMID: 33209510 PMCID: PMC7653508 DOI: 10.1093/pcmedi/pbaa025] [Citation(s) in RCA: 8] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/14/2020] [Revised: 07/06/2020] [Accepted: 07/12/2020] [Indexed: 02/06/2023] Open
Abstract
Hearing loss is the most common neurosensory deficit. It results from a variety of heritable and acquired causes and is linked to multiple deleterious effects on a child's development that can be ameliorated by prompt identification and individualized therapies. Diagnosing hearing loss in newborns is challenging, especially in mild or progressive cases, and its management requires a multidisciplinary team of healthcare providers comprising audiologists, pediatricians, otolaryngologists, and genetic counselors. While physiologic newborn hearing screening has resulted in earlier diagnosis of hearing loss than ever before, a growing body of knowledge supports the concurrent implementation of genetic and cytomegalovirus testing to offset the limitations inherent to a singular screening modality. In this review, we discuss the contemporary role of screening for hearing loss in newborns as well as future directions in its diagnosis and treatment.
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Affiliation(s)
- Ryan K Thorpe
- Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, 375 Newton Rd, Iowa City, IA 52242, USA
- Department of Otolaryngology – Head and Neck Surgery, University of Iowa, 200 Hawkins Dr, Iowa City, IA 52242, USA
| | - Richard J H Smith
- Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, 375 Newton Rd, Iowa City, IA 52242, USA
- Department of Otolaryngology – Head and Neck Surgery, University of Iowa, 200 Hawkins Dr, Iowa City, IA 52242, USA
- The Interdisciplinary Graduate Program in Genetics, University of Iowa, 375 Newton Rd, Iowa City, IA 52242, USA
- Iowa Institute of Human Genetics, University of Iowa, 375 Newton Rd, Iowa City, IA 52242, USA
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Chen J, Liu L, Xia D, He F, Wang Q, Li T, Lai Y, Liu S, Zhang Z. Comparison of spontaneous fetal loss rates between women with singleton and twin pregnancies after mid-trimester amniocentesis - A historical cohort study. Prenat Diagn 2020; 40:1315-1320. [PMID: 32584427 DOI: 10.1002/pd.5774] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/04/2020] [Revised: 06/12/2020] [Accepted: 06/16/2020] [Indexed: 01/12/2023]
Abstract
OBJECTIVE To assess and compare fetal loss rates before 28 weeks of singleton and twin pregnancies after mid-trimester amniocentesis. METHOD This historic cohort study included 13 773 women with singletons and 426 women with twins undergoing mid-trimester amniocentesis from 1/2015 to 3/2017. Pregnancies resulting in termination or selective reduction before 28 weeks were excluded, as well as twin gestations undergoing single-puncture amniocentesis. Fetal loss rates were compared between singleton and twins taking into account maternal characteristics, amniocentesis procedure, and fetal chromosomal abnormalities. RESULTS The rates of fetal chromosomal abnormalities were similar in singleton and twin gestations (1.13% vs 0.70%, P = .253). No difference was found in maternal or fetal characteristics, or amniocentesis procedure between the two groups. The fetal loss rate was significantly higher in twin compared with singleton pregnancies (1.91% vs 0.24%, P < .001, RR = 8.25 [95% CI: 4.51 to 15.09]). The fetal loss rate between monochorionic twins and dichorionic twins was similar (1.80% vs 1.78%, P = 1.000). CONCLUSIONS Twin pregnancies have higher risk of fetal loss after mid-trimester amniocentesis, which cannot be explained by differences in rates of fetal chromosomal abnormalities, maternal characteristic, or amniocentesis technique.
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Affiliation(s)
- Jiawei Chen
- West China School of Medicine, Sichuan University, Chengdu, China
| | - Linhu Liu
- West China School of Medicine, Sichuan University, Chengdu, China
| | - Dan Xia
- Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, Chengdu, China
- Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Chengdu, China
| | - Fenghua He
- Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, Chengdu, China
- Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Chengdu, China
| | - Qiyi Wang
- Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, Chengdu, China
- Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Chengdu, China
| | - Ting Li
- Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, Chengdu, China
- Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Chengdu, China
| | - Yi Lai
- Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, Chengdu, China
- Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Chengdu, China
| | - Shanling Liu
- Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, Chengdu, China
- Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Chengdu, China
| | - Zhu Zhang
- Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, Chengdu, China
- Key Laboratory of Obstetric & Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Chengdu, China
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Zhytnik L, Simm K, Salumets A, Peters M, Märtson A, Maasalu K. Reproductive options for families at risk of Osteogenesis Imperfecta: a review. Orphanet J Rare Dis 2020; 15:128. [PMID: 32460820 PMCID: PMC7251694 DOI: 10.1186/s13023-020-01404-w] [Citation(s) in RCA: 18] [Impact Index Per Article: 3.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/07/2020] [Accepted: 05/11/2020] [Indexed: 02/07/2023] Open
Abstract
Background Osteogenesis Imperfecta (OI) is a rare genetic disorder involving bone fragility. OI patients typically suffer from numerous fractures, skeletal deformities, shortness of stature and hearing loss. The disorder is characterised by genetic and clinical heterogeneity. Pathogenic variants in more than 20 different genes can lead to OI, and phenotypes can range from mild to lethal forms. As a genetic disorder which undoubtedly affects quality of life, OI significantly alters the reproductive confidence of families at risk. The current review describes a selection of the latest reproductive approaches which may be suitable for prospective parents faced with a risk of OI. The aim of the review is to alleviate suffering in relation to family planning around OI, by enabling prospective parents to make informed and independent decisions. Main body The current review provides a comprehensive overview of possible reproductive options for people with OI and for unaffected carriers of OI pathogenic genetic variants. The review considers reproductive options across all phases of family planning, including pre-pregnancy, fertilisation, pregnancy, and post-pregnancy. Special attention is given to the more modern techniques of assisted reproduction, such as preconception carrier screening, preimplantation genetic testing for monogenic diseases and non-invasive prenatal testing. The review outlines the methodologies of the different reproductive approaches available to OI families and highlights their advantages and disadvantages. These are presented as a decision tree, which takes into account the autosomal dominant and autosomal recessive nature of the OI variants, and the OI-related risks of people without OI. The complex process of decision-making around OI reproductive options is also discussed from an ethical perspective. Conclusion The rapid development of molecular techniques has led to the availability of a wide variety of reproductive options for prospective parents faced with a risk of OI. However, such options may raise ethical concerns in terms of methodologies, choice management and good clinical practice in reproductive care, which are yet to be fully addressed.
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Affiliation(s)
- Lidiia Zhytnik
- Clinic of Traumatology and Orthopaedics, Tartu University Hospital, Tartu, Estonia.
| | - Kadri Simm
- Institute of Philosophy and Semiotics, Faculty of Arts and Humanities, University of Tartu, Tartu, Estonia.,Centre of Ethics, University of Tartu, Tartu, Estonia
| | - Andres Salumets
- Competence Centre on Health Technologies, Tartu, Estonia.,Department of Obstetrics and Gynaecology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.,Institute of Genomics, University of Tartu, Tartu, Estonia.,COMBIVET ERA Chair, Institute of Veterinary Medicine and Animal Sciences, Estonian University of Life Sciences, Tartu, Estonia
| | - Maire Peters
- Competence Centre on Health Technologies, Tartu, Estonia.,Department of Obstetrics and Gynaecology, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia
| | - Aare Märtson
- Clinic of Traumatology and Orthopaedics, Tartu University Hospital, Tartu, Estonia.,Department of Traumatology and Orthopaedics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia
| | - Katre Maasalu
- Clinic of Traumatology and Orthopaedics, Tartu University Hospital, Tartu, Estonia.,Department of Traumatology and Orthopaedics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia
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Chaksuwat P, Wanapirak C, Piyamongkol W, Sirichotiyakul S, Tongprasert F, Srisupundit K, Luewan S, Traisrisilp K, Jatavan P, Tongsong T. A comparison of pregnancy outcomes after second-trimester amniocentesis between cases with penetration of the placenta and nonpenetration. J Matern Fetal Neonatal Med 2020; 34:3883-3888. [PMID: 32299277 DOI: 10.1080/14767058.2019.1702017] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/24/2022]
Abstract
Objective: To compare the fetal loss rate associated with second-trimester amniocentesis between the procedures with penetration and nonpenetration of the placenta, as a primary outcome and to compare the rates of adverse pregnancy outcomes including preterm birth, fetal growth restriction and low birth weight, as secondary outcomes.Method: A retrospective cohort study was conducted on women undergoing second-trimester amniocentesis. Our prospective database of amniocentesis, from January 1989 to December 2018, was accessed to retrieve the records meeting the inclusion criteria consisting of singleton pregnancies, gestational age of 16-22 weeks, and known obstetric outcomes. The patients were categorized into two groups: placental penetration and nonpenetration. The rates of fetal loss, including abortion (<24 weeks of gestation) and fetal death in utero (>24 weeks of gestation), and other adverse pregnancy outcomes were compared between the two groups.Results: A total of 21,566 procedures were performed during the study period. Of them, 8601 were excluded due to chromosomal/structural abnormalities, various underlying medical diseases and incomplete data or unavailability of final outcomes. Finally, 12,965 cases were available for analysis including 4692 (36.2%) in the group of placental penetration and 8273 (63.8%) in the group of nonpenetration. The abortion rate after amniocentesis trended to be increased in the placental penetration group (0.6 versus 0.4%, p = .064; RR: 1.60, 95%CI 0.97-2.64). Likewise, the fetal loss rate trended to be increased in the placental penetration group (1.0 versus 0.7%, p = .121; RR: 1.35 95%CI 0.92-1.98). Interestingly, preterm birth rate was significantly increased in the placental penetration group (13.8 versus 12.6%, p = .043; RR: 1.10 95%CI 1.00-1.20).Conclusion: Fetal loss rate was slightly increased, but not statistically significant, among the procedures with placental penetration. However, penetration of the placenta was slightly but significantly associated with an increase in rates of preterm birth.
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Affiliation(s)
- Pakorn Chaksuwat
- Faculty of Medicine, Department of Obstetrics and Gynecology, Chiang Mai University, Chiang Mai, Thailand
| | - Chanane Wanapirak
- Faculty of Medicine, Department of Obstetrics and Gynecology, Chiang Mai University, Chiang Mai, Thailand
| | - Wirawit Piyamongkol
- Faculty of Medicine, Department of Obstetrics and Gynecology, Chiang Mai University, Chiang Mai, Thailand
| | - Supatra Sirichotiyakul
- Faculty of Medicine, Department of Obstetrics and Gynecology, Chiang Mai University, Chiang Mai, Thailand
| | - Fuanglada Tongprasert
- Faculty of Medicine, Department of Obstetrics and Gynecology, Chiang Mai University, Chiang Mai, Thailand
| | - Kasemsri Srisupundit
- Faculty of Medicine, Department of Obstetrics and Gynecology, Chiang Mai University, Chiang Mai, Thailand
| | - Suchaya Luewan
- Faculty of Medicine, Department of Obstetrics and Gynecology, Chiang Mai University, Chiang Mai, Thailand
| | - Kuntharee Traisrisilp
- Faculty of Medicine, Department of Obstetrics and Gynecology, Chiang Mai University, Chiang Mai, Thailand
| | - Phudit Jatavan
- Faculty of Medicine, Department of Obstetrics and Gynecology, Chiang Mai University, Chiang Mai, Thailand
| | - Theera Tongsong
- Faculty of Medicine, Department of Obstetrics and Gynecology, Chiang Mai University, Chiang Mai, Thailand
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Ozel A, Alici Davutoglu E, Yurtkal A, Madazli R. How do platelet-to-lymphocyte ratio and neutrophil-to-lymphocyte ratio change in women with preterm premature rupture of membranes, and threaten preterm labour? J OBSTET GYNAECOL 2019; 40:195-199. [PMID: 31475592 DOI: 10.1080/01443615.2019.1621807] [Citation(s) in RCA: 12] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/02/2023]
Abstract
The aim of the study was to investigate peripheral blood platelets, neutrophils and lymphocytes counts in women with preterm premature rupture of membranes (PPROM) and threatened preterm labour (TPL) compared with gestation-matched controls in order to learn how they change. This study was conducted on 60 women with PPROM, 50 women with TPL and 47 healthy pregnant women. Laboratory parameters (including complete blood count, C-reactive protein (CRP)) of all the participants were recorded. The neutrophil-to-lymphocyte ratio (NLR) values were significantly higher in PPROM group than TPL group and healthy control group (6.1 ± 3.9, 4.4 ± 1.7, 4.4 ± 2.2, p = .007, p = .018, respectively). At a cut-off level of 5.14, NLR accurately predicted occurrence of neonatal sepsis (AUC = 0.717 (95% confidence interval 0.610-0.824), p = .001) with sensitivity and specificity rates of 69.7% and 72.0%, respectively. In the management of the patients with PPROM, NLR can be used as a more cost-effective method than other blood parameters that require the use of a kit.IMPACT STATEMENTWhat is already known on this subject? There is only one study in the literature evaluating blood count parameters (such as platelet-to-lymphocyte ratio (PLR), NLR) in PPROM pregnancies. That study demonstrated PLR and NLR were both higher in the PPROM group.What do the results of this study add? The present study demonstrates that only NLR is higher in the PPROM group. Furthermore, we have also demonstrated distinctively that NLR can predict occurrence of neonatal sepsis.What are the implications of these findings for clinical practice and/or further research? High values of NLR may be useful for predicting adverse outcomes in PPROM and TPL patients as a cost-effective method. Further studies are needed to determine whether these parameters can be used to predict if a pregnant woman who is at risk of preterm labour will result in adverse perinatal outcome.
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Affiliation(s)
- Aysegul Ozel
- Department of Obstetrics and Gynecology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey
| | - Ebru Alici Davutoglu
- Department of Obstetrics and Gynecology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey
| | - Aslihan Yurtkal
- Department of Obstetrics and Gynecology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey
| | - Riza Madazli
- Department of Obstetrics and Gynecology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey
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8
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Connolly KA, Eddleman KA. Amniocentesis: A contemporary review. World J Obstet Gynecol 2016; 5:58-65. [DOI: 10.5317/wjog.v5.i1.58] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/01/2015] [Revised: 10/27/2015] [Accepted: 12/15/2015] [Indexed: 02/05/2023] Open
Abstract
Amniocentesis is an essential tool in obstetrics. Invasive testing remains the only modality for diagnostic genetic testing and the only way to provide comprehensive testing for chromosomal abnormalities. Despite increasing use of cell free fetal deoxyribonucleic acid (DNA) testing, amniocentesis should still be offered to all women who desire more complete and accurate genetic testing. Counseling patients on the limitations of screening tests is of the upmost importance and amniocentesis should continue to be recommended to confirm positive results from cell free fetal DNA testing or in the case of failed cell free fetal DNA test. As cell free fetal DNA screening has not adequately been studied in multiple gestations, its use is not recommended in this population and invasive testing should be offered. Amniocentesis is also very useful in providing additional information in settings other than genetic testing the second and third trimester. If intraamniotic infection is suspected, but the clinical findings are not enough to guide management, amniocentesis can provide testing that can both immediately clarify the picture (interleukin-6, gram stain, glucose levels) and finally confirm the presence of infection (culture). It can also be used to detect the presence of intrauterine viral infections. Additionally, amniocentesis may be used to test for markers of fetal lung maturity. The American Congress of Obstetricians and Gynecologists recommends that amniocentesis for this indication not be used in cases where late preterm delivery is indicated. It may be useful in guiding decision-making, however, when late preterm delivery is indicated, but when exact timing is unclear. Regardless of the indication, amniocentesis appears to be a relatively low risk procedure with minimal risk to the patient. Additional randomized controlled trials are not likely, as they are not feasible to due extremely high number of participants that would be needed to detect a difference in loss rates. Based on current literature, however, the risk of pregnancy loss from second trimester amniocentesis is low in both singleton and twin gestations. We counsel patients that technique has changed since the original studies in the 1970s and feel comfortable quoting a loss rate of 1/500-1/1000 based on contemporary data.
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Prenatal diagnosis of cystic fibrosis: 10-years experience. ACTA ACUST UNITED AC 2015; 63:126-9. [DOI: 10.1016/j.patbio.2015.04.002] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/26/2015] [Accepted: 04/17/2015] [Indexed: 11/23/2022]
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10
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Theodora M, Antsaklis A, Antsaklis P, Blanas K, Daskalakis G, Sindos M, Mesogitis S, Papantoniou N. Fetal loss following second trimester amniocentesis. Who is at greater risk? How to counsel pregnant women? J Matern Fetal Neonatal Med 2015; 29:590-5. [DOI: 10.3109/14767058.2015.1012061] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/13/2022]
Affiliation(s)
- Marianna Theodora
- 1st Department of Obstetrics Gynecology, University of Athens, Athens, Greece
| | - Aris Antsaklis
- 1st Department of Obstetrics Gynecology, University of Athens, Athens, Greece
| | - Panos Antsaklis
- 1st Department of Obstetrics Gynecology, University of Athens, Athens, Greece
| | - Konstantinos Blanas
- 1st Department of Obstetrics Gynecology, University of Athens, Athens, Greece
| | - Georgios Daskalakis
- 1st Department of Obstetrics Gynecology, University of Athens, Athens, Greece
| | - Michael Sindos
- 1st Department of Obstetrics Gynecology, University of Athens, Athens, Greece
| | - Spiros Mesogitis
- 1st Department of Obstetrics Gynecology, University of Athens, Athens, Greece
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11
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Isık H, Aynıoglu O, Sahbaz A, Arıkan I, Karçaaltıncaba D, Sahin H, Köroglu M. Can plateletcrit, an underestimated platelet parameter, be related with preterm labour? J OBSTET GYNAECOL 2015; 35:676-80. [PMID: 25692856 DOI: 10.3109/01443615.2015.1004530] [Citation(s) in RCA: 8] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/13/2022]
Abstract
OBJECTIVE Noninvasive and simple markers are needed for the prediction of preterm delivery in women at risk for preterm labour. The aim of this study was to determine the value of platelet indices in the prediction of preterm delivery. DESIGN A retrospective study. SETTING Routine antenatal care in Zonguldak Bülent Ecevit University between 2008 and 2011. SAMPLE Ninety patients who delivered between 28 and 37 weeks of gestational age and 128 patients who delivered at term. METHODS Plateletcrit and other haematological markers, cervical dilatation and effacement, and the neutrophil-to-lymphocyte ratio as an inflammation marker. MAIN OUTCOME MEASURE The role of platelet indices in predicting the preterm delivery. RESULTS The platelet count, plateletcrit, white blood cell count, red cell distribution width, and neutrophil count were significantly higher in the preterm delivery group. Receiver operating characteristic curve analysis showed that the plateletcrit cut-off value for predicting spontaneous preterm labour was 0.201%, with a sensitivity of 95.6% and specificity of 87.5%; the cut-off value for the platelet count was 234 ? 103/mm3 with a sensitivity of 81.0% and specificity of 71.0%. CONCLUSION Plateletcrit is a low-cost, widely available, and noninvasive marker that might be used for the prediction of preterm delivery in patients with a history of preterm labour.
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Affiliation(s)
- H Isık
- a Department of Obstetrics and Gynecology , Faculty of Medicine, Bülent Ecevit University , Zonguldak , Turkey
| | - O Aynıoglu
- a Department of Obstetrics and Gynecology , Faculty of Medicine, Bülent Ecevit University , Zonguldak , Turkey
| | - A Sahbaz
- a Department of Obstetrics and Gynecology , Faculty of Medicine, Bülent Ecevit University , Zonguldak , Turkey
| | - I Arıkan
- a Department of Obstetrics and Gynecology , Faculty of Medicine, Bülent Ecevit University , Zonguldak , Turkey
| | - D Karçaaltıncaba
- b Department of Obstetrics and Gynecology , Faculty of Medicine, Gazi University , Ankara , Turkey
| | - H Sahin
- c Department of Internal Medicine , Faculty of Medicine, Bülent Ecevit University , Zonguldak , Turkey
| | - M Köroglu
- d Department of Hematology , Karabük Education and Research Hospital , Karabük , Turkey
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12
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Noninvasive prenatal detection for pathogenic CNVs: the application in α-thalassemia. PLoS One 2013; 8:e67464. [PMID: 23840709 PMCID: PMC3696090 DOI: 10.1371/journal.pone.0067464] [Citation(s) in RCA: 20] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/07/2013] [Accepted: 05/18/2013] [Indexed: 11/30/2022] Open
Abstract
Background The discovery of cell free fetal DNA (cff-DNA) in maternal plasma has brought new insight for noninvasive prenatal diagnosis. Combining with the rapidly developed massively parallel sequencing technology, noninvasive prenatal detection of chromosome aneuploidy and single base variation has been successfully validated. However, few studies discussed the possibility of noninvasive pathogenic CNVs detection. Methodology/Principal Findings A novel algorithm for noninvasive prenatal detection of fetal pathogenic CNVs was firstly tested in 5 pairs of parents with heterozygote α-thalassemia of Southeast Asian (SEA) deletion using target region capture sequencing for maternal plasma. Capture probes were designed for α-globin (HBA) and β-globin (HBB) gene, as well as 4,525 SNPs selected from 22 automatic chromosomes. Mixed adaptors with 384 different barcodes were employed to construct maternal plasma DNA library for massively parallel sequencing. The signal of fetal CNVs was calculated using the relative copy ratio (RCR) of maternal plasma combined with the analysis of R-score and L-score by comparing with normal control. With mean of 101.93× maternal plasma sequencing depth for the target region, the RCR value combined with further R-score and L-score analysis showed a possible homozygous deletion in the HBA gene region for one fetus, heterozygous deletion for two fetus and normal for the other two fetus, which was consistent with that of invasive prenatal diagnosis. Conclusions/Significance Our study showed the feasibility to detect pathogenic CNVs using target region capture sequencing, which might greatly extend the scope of noninvasive prenatal diagnosis.
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Ma Y, Gong H, Wen Y. Nucleic acid-based non-invasive prenatal diagnosis of genetic skin diseases: are we ready? Exp Dermatol 2013; 22:392-5. [PMID: 23711062 DOI: 10.1111/exd.12156] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 04/17/2013] [Indexed: 01/02/2023]
Abstract
The discovery of circulating fetal nucleic acids is a great step on the way of developing non-invasive prenatal diagnosis (NIPD) for genetic disorders. Here, we briefly discuss the current applications of circulating fetal nucleic acids in genetic testing for different kinds of hereditary diseases with an emphasis on using circulating cell-free fetal DNA in diagnosis of monogenic disorders. As the genetic skin disorders impair the quality of life at different levels, we next discuss some ethical issues in NIPD for genetic skin diseases of various severities and in particular, the responsibility of doctors and parents, respectively, in the prenatal genetic testing.
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Affiliation(s)
- Yonghui Ma
- Institute for Science, Ethics and Innovation, University of Manchester, Manchester, UK
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Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis. Mol Biol Int 2012; 2012:797342. [PMID: 23320174 PMCID: PMC3540816 DOI: 10.1155/2012/797342] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/13/2012] [Accepted: 11/27/2012] [Indexed: 11/18/2022] Open
Abstract
Preimplantation genetic diagnosis (PGD) allows birth of unaffected children for couples at risk for a genetic disorder. We present the strategy and outcome of PGD for four lysosomal storage disorders (LSD): Tay-Sachs disease (TSD), Gaucher disease (GD), Fabry disease (FD), and Hunter syndrome (HS), and subsequent development of stem cell lines. For each disease, we developed a family-specific fluorescent multiplex single-cell PCR protocol that included the familial mutation and informative markers surrounding the mutation. Embryo biopsy and PGD analysis were performed on either oocytes (polar bodies one and two) or on single blastomeres from a six-cell embryo. We treated twenty families carrying mutations in these lysosomal storage disorders, including 3 couples requiring simultaneous analysis for two disorders (TSD/GD, TSD/balanced Robertsonian translocation 45XYder(21;14), and HS/oculocutaneus albinism). These analyses led to an overall pregnancy rate/embryo transfer of 38% and the birth of 20 unaffected children from 17 families. We have found that PGD for lysosomal disorders is a safe and effective method to prevent birth of affected children. In addition, by using mutant embryos for the derivation of stem cell lines, we have successfully established GD and HS hESC lines for use as valuable models in LSD research.
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Kagan KO, Hoopmann M, Kozlowski P. Assessment of Foetal DNA in Maternal Blood - A Useful Tool in the Hands of Prenatal Specialists. Geburtshilfe Frauenheilkd 2012; 72:998-1003. [PMID: 25258455 DOI: 10.1055/s-0032-1327960] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/19/2012] [Revised: 10/19/2012] [Accepted: 10/21/2012] [Indexed: 10/27/2022] Open
Abstract
Over the last few years, first trimester screening between 11+ and 13+ weeks of gestation has become one of the most important ultrasound examinations in pregnancy, as it allows physicians to predict several pregnancy complications including pre-eclampsia or pre-term birth. Screening for trisomies 21/18 and 13 using maternal and gestational age, foetal nuchal translucency, and maternal serum biochemistry was formerly the main reason for first trimester screening. However, today this is only one part of the overall examination. In the near future, the analysis of foetal DNA obtained from maternal blood will be used to supplement first trimester screening for aneuploidy or even replace current screening methods. In this review we show how prenatal medicine specialists can use foetal DNA analysis.
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Affiliation(s)
- K O Kagan
- Department of Obstetrics and Gynaecology, University of Tübingen
| | - M Hoopmann
- Department of Obstetrics and Gynaecology, University of Tübingen
| | - P Kozlowski
- praenatal.de, Praenatal-Medizin und Genetik Düsseldorf
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Bustamante-Aragonés A, Rodríguez de Alba M, Perlado S, Trujillo-Tiebas MJ, Arranz JP, Díaz-Recasens J, Troyano-Luque J, Ramos C. Non-invasive prenatal diagnosis of single-gene disorders from maternal blood. Gene 2012; 504:144-9. [DOI: 10.1016/j.gene.2012.04.045] [Citation(s) in RCA: 57] [Impact Index Per Article: 4.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/19/2012] [Revised: 03/06/2012] [Accepted: 04/18/2012] [Indexed: 11/28/2022]
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Rodríguez de Alba M, Bustamante-Aragonés A, Perlado S, Trujillo-Tiebas MJ, Díaz-Recasens J, Plaza-Arranz J, Ramos C. Noninvasive prenatal diagnosis of monogenic disorders. Expert Opin Biol Ther 2012; 12 Suppl 1:S171-9. [DOI: 10.1517/14712598.2012.674509] [Citation(s) in RCA: 10] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/24/2022]
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Kim MA, Lee BS, Park YW, Seo K. Serum markers for prediction of spontaneous preterm delivery in preterm labour. Eur J Clin Invest 2011; 41:773-80. [PMID: 21299551 DOI: 10.1111/j.1365-2362.2011.02469.x] [Citation(s) in RCA: 34] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/30/2022]
Abstract
BACKGROUND Simple, more sensitive markers to predict spontaneous preterm delivery in preterm labour are needed. The aim of this study is to compare the clinical effectiveness of various serum inflammatory markers and cervix length for prediction of spontaneous preterm delivery. MATERIALS AND METHODS We retrospectively reviewed medical records of 175 patients hospitalized for preterm labour (102 with preterm delivery and 73 with term delivery). For all study subjects, haematological markers and cervix length were recorded on admission. Because neutrophil to lymphocyte ratio (NLR) showed the potential as a diagnostic marker, we designed a combined marker by dividing cervix length by NLR. The diagnostic and prognostic accuracy of the combined marker was analysed using multivariate analyses. RESULTS The levels of combined marker (P < 0·001), neutrophil (P < 0·001), lymphocyte (P = 0·02), NLR (P < 0·001), C-reactive protein (P = 0·016) and the cervix length (P < 0·001) in preterm delivery group were significantly different from those of term delivery group. Compared to cervix length or systemic inflammatory markers alone, combined marker showed higher sensitivity (64·2%) and specificity (88·3%) for prediction of preterm delivery. On Cox multivariate analysis, combined marker positive (< 0·29) and short cervix length (< 1·7 cm) were independent poor prognostic factors and combined marker positive was the most powerful prognostic marker for spontaneous preterm delivery (hazard ratio = 5·60, P < 0·001). CONCLUSIONS Combined marker could be used as a simple and sensitive parameter for identifying women at risk of spontaneous preterm delivery.
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Affiliation(s)
- Min-A Kim
- Department of Obstetrics and Gynecology, Yonsei University College of Medicine, Seoul, Korea
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Durand MA, Stiel M, Boivin J, Elwyn G. Information and decision support needs of parents considering amniocentesis: interviews with pregnant women and health professionals. Health Expect 2010; 13:125-38. [PMID: 20536536 DOI: 10.1111/j.1369-7625.2009.00544.x] [Citation(s) in RCA: 32] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/30/2022] Open
Abstract
OBJECTIVE Our aim was to clarify and categorize information and decision support needs of pregnant women deciding about amniocentesis. BACKGROUND Prenatal screening for Down's syndrome (implemented in routine practice) generates a quantifiable risk of chromosome abnormality. To increase certainty, chromosomal material needs to be obtained through amniocentesis or other diagnostic test. Amniocentesis carries risks of pregnancy loss. METHODS Semi-structured interviews were conducted with health professionals and pregnant women who had considered amniocentesis. The data were qualitatively analysed using a two-step thematic content analysis. RESULTS A sample of 17 health professionals and 17 pregnant women were interviewed. Professionals demonstrated little consensus regarding the miscarriage rate, the potential consequences of amniocentesis testing and the uncertainty associated with the tests. Furthermore, methods employed to communicate risks varied between professionals. Pregnant women reported heightened stress and anxiety. Twelve out of 17 women described the decision as complex and difficult to make while five participants were satisfied with the information and support provided. Women would have liked more information about the risks involved, the results, the consequences of an amniocentesis and associated emotional difficulties. Women highlighted the need for personalized information, presented in multiple ways, while remaining simple and unbiased. CONCLUSIONS There is variation in the provision of information related to amniocentesis testing. The majority of pregnant women reported difficulties making a decision and identified dimensions of information and decision support where improvements were needed.
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Affiliation(s)
- Marie-Anne Durand
- Department of Primary Care and Public Health, School of Medicine, Cardiff University, Cardiff, UK
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National Retinoblastoma Strategy Canadian Guidelines for Care: Stratégie thérapeutique du rétinoblastome guide clinique canadien. Can J Ophthalmol 2010; 44 Suppl 2:S1-88. [PMID: 20237571 DOI: 10.3129/i09-194] [Citation(s) in RCA: 38] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/21/2022]
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