[Nuchal translucency: screening for chromosomal abnormalities and congenital malformations. Multicenter study].
OBJECTIVE
To value the rate of chromosomal abnormalities and evolution of children who had a prenatal diagnosis of fetal nuchal translucency in the first trimester.


METHODS
Multicenter prospective study conducted in 4,582 patients who had a first ultrasonography between 10 and 14 weeks' gestation (abdominal and/or transvaginal sonography). The measurement of fetal nuchal translucency was performed by mid-sagittal section and when it was higher than 2.5 mm a fetal karyotype was made.


RESULTS
Three hundred and fifty eight nuchal translucencies (> 2.5 mm) were diagnosed and 334 karyotypes were done. We found 25 chromosomal anomalies (7.4%): 14 trisomies 21; 7 trisomies 18; 2 trisomies 13; one triploidy and one trisomy X. The postnatal examination of children detected three congenital malformations (0.9%): one facial dysmorphia, one complex abnormal heart anatomy and one renal agenesia.


CONCLUSIONS
Nuchal translucency (> 2.5 mm) is therefore a sonography sign associated with 7.4% of chromosomal anomalies. The distribution by size and mother ages is low. It should need superior larger-scale studies are needed for representative data. But this study shows that if fetal karyotype is normal, the incidence of congenital malformations seems to be the same by comparison with the general population.
Jemmali
M
M
Maternité Jeanne de Flandre, Lille.
Valat
A S
AS
Poulain
P
P
Favre
R
R
Bourgeot
P
P
Subtil
D
D
Puech
F
F
D002869:Chromosome Aberrations; D000013:Congenital Abnormalities / Q000175:diagnosis*; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006801:Humans; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities; D009333:Neck / Q000000981:diagnostic imaging*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011446:Prospective Studies; D014314:Trisomy; D016216:Ultrasonography, Prenatal
Clarté nucale: dépistage des anomalies chromosomiques et des malformations congénitales. Etude multicentrique.