Prenatal findings in cardio-facio-cutaneous syndrome

International audience; Our study was designed to analyze prenatal manifestations in patientsă affected with cardio-facio-cutaneous syndrome (CFCS), in order to defineă indications of DNA testing in utero. Prenatal features were extractedă from a national database and additional data were collected from 16ă families contacted through the French association of CFC-Costelloă syndrome. We collected results of ultrasound scan (USS) biometrics,ă presence of congenital birth defects, and polyhydramnios. From theă database, increased nuchal translucency was present in 13% ofă pregnancies, polyhydramnios in 52%, macrosomia and/or macrocephaly ină 16%. Of the 16 pregnancies, 81% were complicated by abnormal USSă findings. Polyhydramnios was reported in 67%. Head circumference,ă biparietal diameter, and abdominal circumference were above the 90thă centile in 72%, 83% and, 81% of fetuses, respectively. Contrastingă with macrosomia, femur length was below the 10th centile in 38%.ă Urinary tract abnormalities were found in 47% of fetuses. Most CFCSă fetuses showed a combination of macrocephaly, macrosomia, andă polyhydramnios, contrasting with relatively short femora. This growthă pattern is also seen in Costello syndrome. We suggest that screening foră CFCS and Costello gene mutations could be proposed in pregnanciesă showing this unusual pattern of growth parameters. (c) 2015 Wileyă Periodicals, Inc.