[Congenital heart disease and nuchal translucency with normal karyotype. Report of 3 cases].
We report three pregnancies where enlarged nuchal translucency was discovered at the first trimester transvaginal ultrasound examination; congenital heart disease developed later. Two cases of hypoplastic left heart were diagnosed prenatally at the mid-trimester sonographic examination. The pregnancies were terminated. In the third case, a supravalvular pulmonary stenosis was discovered on the second day of life. Further investigations demonstrated a mutation on the elastin locus, thus confirming the diagnosis of Williams-Beuren syndrome. The role of nuchal translucency as a risk marker for congenital heart disease is discussed.
Gicquel
J M
JM
Centre Hospitalier, Draguignan.
Potier
A
A
Camillieri
J F
JF
Grinneiser
D
D
Rouault
F
F
D006332:Cardiomegaly / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics; D004549:Elastin / Q000235:genetics; D005260:Female; D005326:Fetal Proteins / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D009154:Mutation; D009333:Neck / Q000000981:diagnostic imaging / Q000196:embryology*; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D016216:Ultrasonography, Prenatal; D018980:Williams Syndrome / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics
D005326:Fetal Proteins; D004549:Elastin
Cardiopathie congénitale et clarté nucale avec caryotype normal. A propos de 3 cas.