Chen L, Huang FX. Apert syndrome diagnosed by prenatal ultrasound combined with magnetic resonance imaging and whole exome sequencing: A case report. World J Clin Cases 2021; 9(4): 912-918 [PMID: 33585639 DOI: 10.12998/wjcc.v9.i4.912]
Corresponding Author of This Article
Fei-Xiang Huang, PhD, Associate Chief Physician, Department of Traditional Chinese Medicine, Hangzhou Women’s Hospital, No. 369 Kunpeng Road, Shangcheng District, Hangzhou 310008, Zhejiang Province, China. fxhuang2009@163.com
Research Domain of This Article
Genetics & Heredity
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Clin Cases. Feb 6, 2021; 9(4): 912-918 Published online Feb 6, 2021. doi: 10.12998/wjcc.v9.i4.912
Apert syndrome diagnosed by prenatal ultrasound combined with magnetic resonance imaging and whole exome sequencing: A case report
Lei Chen, Fei-Xiang Huang
Lei Chen, Ultrasonography Department, Hangzhou Women’s Hospital, Hangzhou 310008, Zhejiang Province, China
Fei-Xiang Huang, Department of Traditional Chinese Medicine, Hangzhou Women’s Hospital, Hangzhou 310008, Zhejiang Province, China
Author contributions: Chen L participated in the design of the report, analyzed the data and collected the imaging materials; Huang FX analyzed the data, wrote the paper, designed the report and revised the article. The two authors contributed equally to this work and are considered co-first authors.
Informed consent statement: Consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Fei-Xiang Huang, PhD, Associate Chief Physician, Department of Traditional Chinese Medicine, Hangzhou Women’s Hospital, No. 369 Kunpeng Road, Shangcheng District, Hangzhou 310008, Zhejiang Province, China. fxhuang2009@163.com
Received: September 18, 2020 Peer-review started: September 18, 2020 First decision: November 23, 2020 Revised: December 6, 2020 Accepted: December 16, 2020 Article in press: December 16, 2020 Published online: February 6, 2021
Abstract
BACKGROUND
Most cases of Apert syndrome (AS) are found after birth. Cases of AS diagnosed by ultrasound combined with magnetic resonance imaging (MRI) and whole exome sequencing (WES) during pregnancy are rare.
CASE SUMMARY
We present the case of a 34-year old female patient (gravida 2, para 1) whose fetus was diagnosed with AS during pregnancy. Fetal ultrasound performed at 30, 2/7 wk of pregnancy showed abnormalities. MRI and three-dimensional ultrasound performed at 31, 1/7 wk of pregnancy showed the possibility of AS. Chromosome examination and core family WES were conducted at 31, 5/7 wk of pregnancy. The results showed that FGFR2 in the fetus had a c.755C>G missense mutation in its nucleotide, and AS was confirmed.
CONCLUSION
This case highlights the importance of imaging examinations. Prenatal ultrasound combined with MRI can identify fetal morphological abnormalities accurately, which can be confirmed by WES.
Core Tip: Apert syndrome (AS) during pregnancy is rare. We present a case of AS diagnosed by prenatal ultrasound combined with magnetic resonance imaging and whole exome sequencing in late pregnancy. Our case also shows that S252W mutation of AS is related to syndactyly and craniofacial dysplasia, and suggests that young paternal age is also related to AS. We reviewed the three-dimensional fetal ultrasound at 23, 5/7 wk of gestation and found some suspicious images such as craniosynostosis and raised forehead. This shows that improved awareness of AS and prenatal imaging are important.
