[Congenital heart disease and nuchal translucency with normal karyotype. Report of 3 cases]

Autor: J M, Gicquel, A, Potier, J F, Camillieri, D, Grinneiser, F, Rouault
Jazyk: francouzština
Rok vydání: 1998
Předmět:
Zdroj: Journal de gynecologie, obstetrique et biologie de la reproduction. 27(6)
ISSN: 0368-2315
Popis: 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.
Databáze: OpenAIRE