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.
Prenat Diagn. 2023 Feb;43(2):162-182. doi: 10.1002/pd.6205. Epub 2022 Aug 20.
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.
报告在产前超声（US）发现非典型生殖器后，接受遗传咨询（GC）和产前基因检测的情况，以及这些妊娠的临床和遗传结果。
这是一项对大型性别发育障碍/差异专家中心的非典型胎儿生殖器的回顾性队列研究（2017-2019 年）。我们描述了咨询方面、侵入性产前检测、胎儿的遗传和临床结果，这些胎儿显然没有（第 1 组，n=22 [38%]）或有（第 2 组，n=36 [62%]）额外的 US 异常。
第 1 组中，86%的父母选择了 GC，而第 2 组中这一比例为 72%，分别有 58%和 15%的父母避免了侵入性检测。91%（第 1 组）和 64%（第 2 组）的非典型生殖器在产后得到了证实，这表明 US 对生殖器模糊的诊断存在很高的假阳性率。第 1 组中有 4 个遗传诊断（18%），第 2 组中有 10 个（28%）。总的遗传诊断率为 24%。第 1 组中没有终止妊娠。
为了提供最佳的护理，在产前发现孤立性非典型生殖器后，应提供专家胎儿 US 扫描、GC 和包括广泛检测在内的侵入性诊断。
