Disorders of Sexual Development Prenatal Diagnosis. 10 Year Experience of the Lille University Hospital Multidisciplinary Prenatal Diagnosis Center

Purpose

Improvements in ultrasound technology and practice of fetal karyotype lead to diagnose different types of Disorder of Sexual Development (DSD) during the prenatal period: abnormalities of fetal genitalia, sex chromosome mosaicism with Y material and discrepancy between phenotypic and chromosomal sex.

Material and Methods

We retrospectively studied DSD patients born between 1997 and 2007 referred to the Lille University Hospital either to the Multidisciplinary Prenatal Diagnosis Centre in case of prenatal diagnosis, or to the paediatric, surgical and genetic teams in case of postnatal diagnosis.

Results

We collected 30 pregnancies with fetal DSD. In 20 cases, an abnormality of the fetal genitalia was suspected (Median fetal age was 23.5 weeks’ gestation at diagnosis). In 2 cases, a recurrence risk of a familial form of syndromic DSD was monitored. In 8 cases, karyotype revealed sex chromosome mosaicism or discrepancy between phenotypic and chromosomal sex. Review by the referral center detected 5 false-positives and confirmed 25 cases of prenatal DSD. Examination at birth ascertained 22 cases. Finally 22/108 (20%) of the all DSD registered in our center were diagnosed prenatally.

Conclusions

Prenatal identification of DSD must lead to a multidisciplinary and standardized management: we propose a decision-making algorithm to provide prenatal investigations.

No full text is available. To read the body of this article, please view the PDF online.