title: Nuchal translucency and its relationship to congenital heart disease.
abstract: Nuchal translucency refers to the normal subcutaneous space, observed on first trimester ultrasound evaluation, between the skin and cervical spine. Increased nuchal translucency is known to be associated with an increased risk of aneuploidy, particularly Trisomy 21, and recent studies have also identified increased nuchal translucency as a nonspecific marker for various genetic syndromes and multiple structural anomalies, to include congenital heart disease. This increased risk applies to euploid and aneuploid pregnancies and is directly related to the degree of nuchal translucency thickening. This article reviews the role of nuchal translucency as a screening tool for congenital heart disease.
authors.affiliation: Department of Obstetrics and Gynecology, New York Presbyterian Hospital, Columbia University, NY 10032, USA. devinpa@hermes.cpmc.columbia.edu
authors.forename: P C
authors.initials: PC
authors.lastname: Devine
authors.forename: L L
authors.initials: LL
authors.lastname: Simpson
mesh_terms: D000782:Aneuploidy; D004452:Echocardiography / Q000379:methods*; D005260:Female; D005318:Fetal Heart / Q000000981:diagnostic imaging*; D005865:Gestational Age; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D011247:Pregnancy; D011261:Pregnancy Trimester, First / Q000235:genetics; D015203:Reproducibility of Results; D016216:Ultrasonography, Prenatal