Next-Generation Sequencing Gene Panels and "Solo" Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses.
Congenital malformations
Exome sequencing
Fetal genetic analysis
Genetic disorder
Prenatal diagnosis
Single gene disorders
Journal
Fetal diagnosis and therapy
ISSN: 1421-9964
Titre abrégé: Fetal Diagn Ther
Pays: Switzerland
ID NLM: 9107463
Informations de publication
Date de publication:
2021
2021
Historique:
received:
25
05
2021
accepted:
16
08
2021
pubmed:
15
11
2021
medline:
21
12
2021
entrez:
14
11
2021
Statut:
ppublish
Résumé
The aim of the study was to assess the diagnostic yield of 2 different next-generation sequencing (NGS) approaches: gene panel and "solo" clinical exome sequencing (solo-CES), in fetuses with structural anomalies and normal chromosomal microarray analysis (CMA), in the absence of a known familial mutation. Gene panels encompassing from 2 to 140 genes, were applied mainly in persistent nuchal fold/fetal hydrops and in large hyperechogenic kidneys. Solo-CES, which entails sequencing the fetus alone and only interpreting the Online Mendelian Inheritance in Man genes, was performed in multisystem or recurrent structural anomalies. During the study period (2015-2020), 153 NGS studies were performed in 148 structurally abnormal fetuses with a normal CMA. The overall diagnostic yield accounted for 35% (53/153) of samples and 36% (53/148) of the fetuses. Diagnostic yield with the gene panels was 31% (15/49), similar to 37% (38/104) in solo-CES. A monogenic disease was established as the underlying cause in 35% of selected fetal structural anomalies by gene panels and solo-CES.
Identifiants
pubmed: 34775388
pii: 000519701
doi: 10.1159/000519701
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
746-756Informations de copyright
© 2021 The Author(s). Published by S. Karger AG, Basel.