|
|||||
|
|
Prenatal ultrasound finding of atypical genitalia: Counseling,genetic testing and outcomes |
|
| Authors: | Yolande van Bever Irene A L Groenenberg Maarten F C M Knapen Arianne B Dessens Sabine E Hannema Katja P Wolffenbuttel Karin E M Diderich Lies H Hoefsloot Malgorzata I Srebniak Hennie T Bruggenwirth |
| Institution: | 1. DSD-Expert Center, Erasmus MC, Sophia Children's Hospital, University Medical Center, Rotterdam, The Netherlands;2. 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;3. 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;4. 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;5. 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;6. Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands;7. 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 |
| Abstract: | ObjectiveTo 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.MethodsA 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.ResultsIn 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.ConclusionsFor 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. |
| Keywords: | |