Prenatal care for disorders/differences of sex development: 10 years look back in an expert center
Authors' conclusion
Prenatal assessment may support counselling and care planning for families expecting a child with DSD.
Study context
- Population
- Pregnancies referred to the Multidisciplinary Center for Prenatal Diagnosis of Lyon, January 2013–December 2022, for isolated US suspicion of disorders/differences of sex development (DSD); family-history referrals excluded57 confirmed by experts
- Participants
- 71 patients
- Outcome
- Prenatal management of isolated US suspicion of DSD
Methodological detailssingle-centre, 10-year period
- Single-centre
- 10-year period
Main finding
As reported in the abstract
- SRY testing on maternal blood
- 17.5%
- Invasive examination
- 59.6%
- Amniotic fluid steroid profile
- 76.5%
- Amniotic fluid biochemical analyses for SLO
- 64.7%
- Amniotic fluid genetic analyses
- 100%
- Karyotype
- 100%
- CGH array
- 67.6%
- DSD panel
- 14.7%
- Targeted gene analysis
- 35.3%
- Molecular diagnosis obtained (cases)
- 13
- Molecular diagnosis obtained prenatally (cases)
- 5
Observational data: associations, not effects.
Further findings
Outcomes at birth
- Preterm newborns
- 52.3%
- Intrauterine growth restriction (IUGR)
- 52.3%
- Children with DSD phenotype among 57 prenatally suspected
- 41
- Fetuses ultimately diagnosed with severe neurological condition
- 3
Original publication
Prenatal care for disorders/differences of sex development: 10 years look back in an expert center. J Clin Endocrinol Metab. Published 24 July 2026. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →