| Title: |
Application of Whole‐Exome Sequencing in the Prenatal Diagnosis of Foetuses With Central Nervous System Abnormalities |
| Authors: |
Caiqun Luo, Erya Wen, Yang Liu, Hui Wang, Bei Jia, Liyuan Chen, Xiaoxia Wu, Qian Geng, Huaxuan Wen, Shengli Li, Bingguang Liu, Weiqing Wu, Mei Zhong |
| Source: |
Molecular Genetics & Genomic Medicine, Vol 12, Iss 10, Pp n/a-n/a (2024) |
| Publisher Information: |
Wiley, 2024. |
| Publication Year: |
2024 |
| Collection: |
LCC:Genetics |
| Subject Terms: |
central nervous system abnormalities, foetus, prenatal diagnosis, whole‐exome sequencing, Genetics, QH426-470 |
| More Details: |
ABSTRACT Objective To investigate the clinical value of whole‐exome sequencing (WES) in the diagnosis of foetuses with central nervous system (CNS) abnormalities but having a normal karyotyping and chromosomal microarray result. Method During the period of 2016–2022, there were a total of 149 foetuses with CNS abnormalities but having negative karyotyping and chromosomal microarray analysis results; WES was performed on these foetuses and their parents. Variants were classified according to ACMG guidelines, and the association of pathogenic variants with specific types of CNS abnormalities was explored. Results Among these 149 foetuses, three categories of abnormalities, namely, single CNS abnormality, multiple CNS abnormalities, CNS abnormalities along with other organ system abnormalities were identified, for which the detection rate of P/LP variants is 17.4% (12/69), 28.6% (14/49) and 54.8% (17/31), respectively. Conclusion WES brought about an increase of 28.9% in diagnostic yield in the prenatal evaluation of foetuses with CNS abnormalities but having negative karyotyping and chromosome array results. WES may also be of benefit for the diagnosis of foetuses with isolated CNS abnormalities, as well as for making more informed interpretations of imaging findings and for providing better genetic counselling. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
2324-9269 |
| Relation: |
https://doaj.org/toc/2324-9269 |
| DOI: |
10.1002/mgg3.70016 |
| Access URL: |
https://doaj.org/article/632bb74526b3496c936e79990d7d4aaf |
| Accession Number: |
edsdoj.632bb74526b3496c936e79990d7d4aaf |
| Database: |
Directory of Open Access Journals |
