title: Increased nuchal translucency and congenital heart disease.
abstract: Sonographic assessment of fetal nuchal translucency (NT) thickness is the cornerstone of screening for chromosomal abnormality at 11-13(+6) weeks gestation. This marker was first recognized in pregnancies being karyotyped for advanced maternal age, but its underlying pathophysiology remains to be fully determined. Although increased NT is clearly associated with changes in both lymphatic and cardiac development, neither is an obvious causative agent. The association with cardiac defects has now being subjected to a significant amount of research, with a large body of evidence showing that this marker is also a screening tool for major cardiac defects - although it performs more modestly than for chromosomal abnormality. The field continues to change rapidly. Recent evidence that uses a combination of increased NT, tricuspid regurgitation and abnormal flow in the 'a' wave of the ductus venosus can provide an effective screening strategy to predict many major cardiac defects at this early stage of pregnancy.
authors.affiliation: Discipline of Obstetrics and Gynaecology, Central Clinical School, Faculty of Medicine, University of Sydney, Australia.
authors.forename: Ritu
authors.initials: R
authors.lastname: Mogra
authors.forename: Nasser
authors.initials: N
authors.lastname: Alabbad
authors.forename: Jon
authors.initials: J
authors.lastname: Hyett
mesh_terms: D025063:Chromosome Disorders / Q000000981:diagnostic imaging; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging*; D006439:Hemodynamics; D006801:Humans; D048208:Nuchal Translucency Measurement; D017410:Practice Guidelines as Topic