Genetic examination for fetuses with increased nuchal translucency by exome sequencing.
exome sequencing
genetic counseling
genomic variants
nuchal translucency
prenatal diagnosis
Journal
The journal of obstetrics and gynaecology research
ISSN: 1447-0756
Titre abrégé: J Obstet Gynaecol Res
Pays: Australia
ID NLM: 9612761
Informations de publication
Date de publication:
Feb 2023
Feb 2023
Historique:
revised:
17
10
2022
received:
05
09
2022
accepted:
19
10
2022
pubmed:
31
10
2022
medline:
11
2
2023
entrez:
30
10
2022
Statut:
ppublish
Résumé
This retrospective study aimed to investigate the value of exome sequencing (ES) in fetuses with isolated first-trimester increased nuchal translucency (NT) and normal chromosomes. ES was performed on 103 fetuses with isolated first trimester increased NT and normal chromosomes. The detection rate of monogenic conditions was analyzed. Diagnostic variants were detected in nine cases in which phenotypes and genotypes correlated well, two positive cases were Thanatophoric dysplasia type I, and one case was Kabuki syndrome, which had been detected in previous studies. Eight of the nine cases with diagnostic variants developed additional structural malformations later in pregnancy. Among the nine positive cases, six had a NT thickness between 95th percentile (95th-3.4 mm), and three cases with an increased NT of 3.5 mm or greater. Also, there was no statistical difference in the diagnosis of diagnostic variants in cases with or without a thickened nuchal fold (NF). The diagnostic yield of prenatal ES is low for fetuses with an isolated increased NT. In addition to Noonan syndrome, there are additional genetic syndromes such as Kabuki syndrome and Thanatophoric dysplasia type I that are potentially associated with an increased NT. A cut-off of greater than the 95th percentile may be useful in case selection for ES. Whether it is clinically meaningful to monitor NF values for fetuses with isolated increased NT and normal chromosomes worth considering.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
530-538Subventions
Organisme : Medical Science and Technology Project of Henan Province (Joint construction)
ID : LHGJ20190361
Organisme : Medical Science and Technology Projects of Henan (China)
ID : 202102310388
Informations de copyright
© 2022 Japan Society of Obstetrics and Gynecology.
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