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TH
CONGRESS OF THE ESPU
S16-10 (P without presentation)
RELIABILITY OF PRENATAL DIAGNOSIS IN DISORDERS
OF SEX DEVELOPMENT (DSD)
Paula BORREGO
1
, Florent FUCHS
2
, Cyril AMOUROUX
3
, Benoit ANTOINE
2
,
Alice FAURE
4
, Olivier MAILLET
1
, Sarah GARNIER
1
, Christophe LOPEZ
1
,
Dominique FORGUES
1
, Thierry MERROT
4
, Jean-Michel GUYS
4
, Jean-Michel FAURE
2
,
Claire JEANDEL
3
, Françoise PARIS
3
and Nicolas KALFA
1
1) CHU Montpellier, Pediatric Surgery, Montpellier, FRANCE - 2) CHU Montpellier, Obstetrics and Gynecology,
Montpellier, FRANCE - 3) CHU Montpellier, Pediatric Endocrinolgy, Montpellier, FRANCE - 4) AP-HM, Pediatric Surgery,
Marseille, FRANCE
PURPOSE
Fetal sex determination by prenatal ultrasound is performed early during pregnancy but identifica-
tion of abnormal genitalia remains challenging. We aimed to evaluate the reliability of prenatal
diagnosis of DSD (PN-DSD) to support prenatal counseling and birth management.
MATERIAL AND METHODS
From 2008 to 2016, data from fetuses with PN-DSD were collected using a standardized prenatal
questionnaire and postnatal evaluation by a pediatric urologist, endocrinologist and/or fetopatholo-
gist in case of pregnancy termination. Isolated cryptorchidism and bladder/cloacal exstrophies were
excluded.
RESULTS
Fifty-five fetuses were included. Overall, the positive predictive value was 85%. PN-DSD were
mainly 46XY-DSD (60%, posterior or midpenile hypospdias n=22, anterior hypospadias n=7, scrotal
transposition or buried penis n=2, epispadias n=1, micropenis n=1). 46XX-DSD were identified
in 14% (congenital adrenal hyperplasia n=4, isolated transient labia hypertrophy or clitoromegaly
n=3, ovotestis n=1). Other malformations included Prune-Belly (n=3) and persistent cloaca (n=3).
Prenatal findings were correlated with postnatal phenotype in 72% of 46XY-DSD, but remain very
little specific in 46XX-DSD. Severe 46XY-DSD tended to be associated with early diagnosis at
second trimester (p=0.06) and intra-uterine growth retardation (IUGR, p=0.06). A significant number
of PN-DSD had associated malformations (25.4%) but karyotype abnormalities remain rare (3.6%).
CONCLUSIONS
The positive predictive value of PN-DSD is high. A wide range of phenotypes may be screened by
prenatal ultrasound. The correlation between prenatal and postnatal findings is good in 46XY-DSD
but shows a low specificity in 46XX-DSD. The high frequency of severe 46XX/XY-DSD among
these fetuses justifies birth in a multidisciplinary DSD team. Associated IUGR and early diagnosis
during pregnancy may raise suspicion on severe phenotype.