Prenatal ultrasound finding of atypical genitalia: Counseling, genetic testing and outcomes.
Journal
Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540
Informations de publication
Date de publication:
02 2023
02 2023
Historique:
revised:
24
06
2022
received:
29
11
2021
accepted:
27
06
2022
pubmed:
10
7
2022
medline:
17
2
2023
entrez:
9
7
2022
Statut:
ppublish
Résumé
To report uptake of genetic counseling (GC) and prenatal genetic testing after the finding of atypical genitalia on prenatal ultrasound (US) and the clinical and genetic findings of these pregnancies. A retrospective cohort study (2017-2019) of atypical fetal genitalia in a large expert center for disorders/differences of sex development. We describe counseling aspects, invasive prenatal testing, genetic and clinical outcome of fetuses apparently without [group 1, n = 22 (38%)] or with [group 2, n = 36 (62%)] additional anomalies on US. In group 1, 86% of parents opted for GC versus 72% in group 2, and respectively 58% and 15% of these parents refrained from invasive testing. Atypical genitalia were postnatally confirmed in 91% (group 1) and 64% (group 2), indicating a high rate of false positive US diagnosis of ambiguous genitalia. Four genetic diagnoses were established in group 1 (18%) and 10 in group 2 (28%). The total genetic diagnostic yield was 24%. No terminations of pregnancy occurred in group 1. For optimal care, referral for an expert fetal US scan, GC and invasive diagnostics including broad testing should be offered after prenatal detection of isolated atypical genitalia.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
162-182Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2022 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.
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