Congenital heart disease and nuchal translucency with normal karyotype. Report of 3 cases
Gicquel, J.M.; Potier, A.; Camillieri, J.F.; Grinneiser, D.; Rouault, F.
Journal de Gynecologie Obstetrique et Biologie de la Reproduction 27(6): 625-628
1998
ISSN/ISBN: 0368-2315 PMID: 9854228 Document Number: 489731
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.