Prenatal ultrasound finding of atypical genitalia: Counseling, genetic testing and outcomes.

Autor: van Bever Y; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Groenenberg IAL; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Obstetrics and Prenatal Medicine, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Knapen MFCM; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Obstetrics and Prenatal Medicine, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Dessens AB; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Child and Adolescent Psychiatry, Erasmus MC, University Medical Center Rotterdam, The Netherlands., Hannema SE; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Pediatric Endocrinology, Erasmus MC, University Medical Center Rotterdam, The Netherlands.; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.; Department of Paediatric Endocrinology, Amsterdam University Medical Center, Amsterdam, The Netherlands., Wolffenbuttel KP; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Urology and Pediatric Urology, Erasmus MC, University Medical Center Rotterdam, The Netherlands., Diderich KEM; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Hoefsloot LH; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Srebniak MI; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Bruggenwirth HT; DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
Jazyk: angličtina
Zdroj: Prenatal diagnosis [Prenat Diagn] 2023 Feb; Vol. 43 (2), pp. 162-182. Date of Electronic Publication: 2022 Aug 20.
DOI: 10.1002/pd.6205
Abstrakt: Objective: 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.
Methods: 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.
Results: 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.
Conclusions: 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.
(© 2022 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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