Comprehensive prenatal diagnostics: Exome versus genome sequencing.
Journal
Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540
Informations de publication
Date de publication:
08 2023
08 2023
Historique:
revised:
31
05
2023
received:
31
12
2022
accepted:
14
06
2023
medline:
15
8
2023
pubmed:
25
6
2023
entrez:
25
6
2023
Statut:
ppublish
Résumé
This study aimed to assess the diagnostic yield of prenatal genetic testing using trio whole exome sequencing (WES) and trio whole genome sequencing (WGS) in pregnancies with fetal anomalies by comparing the results with conventional chromosomal microarray (CMA) analysis. A total of 40 pregnancies with fetal anomalies or increased nuchal translucency (NT ≥ 5 mm) were included between the 12th and 21st week of gestation. Trio WES/WGS and CMA were performed in all cases. The trio WES/WGS analysis increased the diagnostic yield by 25% in cases with negative CMA results. Furthermore, all six chromosomal aberrations identified by CMA were independently detected by WES/WGS analysis. In total, 16 out of 40 cases obtained a genetic sequence variant, copy number variant, or aneuploidy explaining the phenotype, resulting in an overall WES/WGS diagnostic yield of 40%. WES analysis provided a more reliable identification of mosaic sequence variants than WGS because of its higher sequencing depth. Prenatal WES/WGS proved to be powerful diagnostic tools for fetal anomalies, surpassing the diagnostic yield of CMA. They have the potential to serve as standalone methods for prenatal diagnosis. The study highlighted the limitations of WGS in accurately detecting mosaic variants, which is particularly relevant when analyzing chorionic villus samples.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1132-1141Subventions
Organisme : Faculty of Health Sciences at University of Southern Denmark PhD fund
Organisme : Aase og Ejnar Danielsens Fond
ID : 19-10-0259
Organisme : Region Syddanmarks Research Fund
ID : 18/17848
Organisme : Fonden til Laegevidenskabens Fremme
ID : 18-L-0459
Organisme : Fonden til Laegevidenskabens Fremme
ID : 19-L-0281
Organisme : Region Syddanmarks PhD Fund
ID : 18/50642
Organisme : Overlaegeraadets forskningsfond from Odense University Hospital
ID : 85-A4013
Organisme : P. A. Messerschmidt og Hustrus Fond
ID : 028077-0006
Informations de copyright
© 2023 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.
Références
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