Prenatal care for Disorders/Differences of Sex Development: 10-years look back in an expert-center

Phenotypic presentations and aetiologies of disorders/differences of sex development (DSD) are variable. While postnatal management is well described, no consensus exists regarding prenatal care, despite increasingly frequent detection.

To describe prenatal management practices of isolated ultrasound suspicion of DSD referred to the Multidisciplinary Center for Prenatal Diagnosis (MCPD) of Lyon over a 10-year period.

Retrospective study of pregnancies referred to MCPD between January 2013 and December 2022 for isolated ultrasound suspicion of DSD. Foetuses referred for family history risk were not included. DSD were considered isolated when no additional malformation was suspected at referral, except minor cardiac anomalies, renal pelvis or ureteral dilation and intrauterine growth restriction (IUGR).

71 patients were referred for suspected isolated DSD, 57 were confirmed by experts. At birth, 52.3% newborn were preterm and 52.3% had IUGR. Among the 57 prenatally suspicion, 41 children presented a DSD phenotype. SRY testing on maternal blood was performed in 17.5% of cases and invasive examination in 59.6% of cases. Amniotic fluid analyses included steroid profile (76.5%), biochemical analyses for SLO (64.7%) and genetic analyses (100%). Genetic analyses comprised karyotype (100%), CGH array (67.6%), DSD panel (14.7%), targeted gene analysis (35.3%). A molecular diagnosis was obtained in 13 cases, including 5 prenatally. Three fetuses were ultimately diagnosed with severe neurological condition.

Prenatal assessment may support counselling and care planning for families expecting a child with DSD. Further prospective studies are necessary to confirm these findings and formulate recommendations for prenatal management of DSD.