Prenatal findings in cardio-facio-cutaneous syndrome.
Our study was designed to analyze prenatal manifestations in patients affected with cardio-facio-cutaneous syndrome (CFCS), in order to define indications of DNA testing in utero. Prenatal features were extracted from a national database and additional data were collected from 16 families contacted through the French association of CFC-Costello syndrome. We collected results of ultrasound scan (USS) biometrics, presence of congenital birth defects, and polyhydramnios. From the database, increased nuchal translucency was present in 13% of pregnancies, polyhydramnios in 52%, macrosomia and/or macrocephaly in 16%. Of the 16 pregnancies, 81% were complicated by abnormal USS findings. Polyhydramnios was reported in 67%. Head circumference, biparietal diameter, and abdominal circumference were above the 90th centile in 72%, 83% and, 81% of fetuses, respectively. Contrasting with macrosomia, femur length was below the 10th centile in 38%. Urinary tract abnormalities were found in 47% of fetuses. Most CFCS fetuses showed a combination of macrocephaly, macrosomia, and polyhydramnios, contrasting with relatively short femora. This growth pattern is also seen in Costello syndrome. We suggest that screening for CFCS and Costello gene mutations could be proposed in pregnancies showing this unusual pattern of growth parameters.
Centre de référence des anomalies du développement et syndrome malformatif PACA, Département de Génétique Médicale, Hôpital de la Timone Enfant, AP-HM, Marseille, France.
Ludivine
L
Templin
Département de Génétique, APHP-Hôpital Robert DEBRE, Paris, France.
Clarisse
C
Baumann
Centre de référence des anomalies du développement et syndrome malformatif PACA, Département de Génétique Médicale, Hôpital de la Timone Enfant, AP-HM, Marseille, France.
Tiffany
T
Busa
Centre pluridisciplinaire de diagnostic prénatal, hôpital de la Timone Enfants, AP-HM, Marseille, France.
Hélène
H
Heckenroth
Département de Génétique, APHP-Hôpital Robert DEBRE, Paris, France.
Nathalie
N
Pouvreau
Service de Génétique clinique, Centre Hospitalier Universitaire, Unité INSERM U930, Faculté de Médecine, Tours, France.
Annick
A
Toutain
Département de Génétique, AP-HP-Hôpital Robert DEBRE, INSERM UMR 1131, Institut Universitaire d'Hématologie, Université Paris Diderot, Paris Sorbonne Cité, Paris, France.
Hélène
H
Cave
Département de Génétique, APHP-Hôpital Robert DEBRE, Université Sorbonne-Paris Cité, INSERM UMR1141, Paris, France.
Alain
A
Verloes
Centre de référence des anomalies du développement et syndrome malformatif PACA, Département de Génétique Médicale, Hôpital de la Timone Enfant, AP-HM, Marseille, France.|Centre pluridisciplinaire de diagnostic prénatal, hôpital de la Timone Enfants, AP-HM, Marseille, France.
Sabine
S
Sigaudy
Centre de référence des anomalies du développement et syndrome malformatif PACA, Département de Génétique Médicale, Hôpital de la Timone Enfant, AP-HM, Marseille, France.|Centre pluridisciplinaire de diagnostic prénatal, hôpital de la Timone Enfants, AP-HM, Marseille, France.|Université Aix-Marseille, INSERM, Génétique Médicale et Génomique Fonctionnelle, UMR_S 910, Marseille, France.
Nicole
N
Philip
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D005145:Face / Q000002:abnormalities*; D005260:Female; D005333:Fetus / Q000002:abnormalities / Q000378:metabolism / Q000473:pathology; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011247:Pregnancy; D011379:Prognosis; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D012868:Skin Abnormalities / Q000175:diagnosis* / Q000235:genetics
C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
BRAF mutation; cardio-facio-cutaneous syndrome; fetal macrosomia; fetal ultrasound; prenatal findings; short femora