First trimester screening for structural fetal abnormalities: nuchal translucency sonography

Nuchal translucency refers to the normal subcutaneous space, observed on first trimester ultrasound examination, between the skin and the cervical spine in the fetus. Increased nuchal translucency is known to be associated with an increased risk of aneuploidy, particularly Down syndrome. In addition to this association with aneuploidy, multiple studies have now identified increased nuchal translucency as a nonspecific marker of a wide range of fetal structural abnormalities, to include congenital diaphragmatic hernia, cardiac defects, and various genetic syndromes. The degree of nuchal translucency is directly related to the prevalence of fetal anomalies and may have prognostic significance, especially when found in association with other anomalies. The pathophysiology of increased nuchal translucency is uncertain but may be the result of cardiac failure or alterations in lymphatic drainage. Increased nuchal translucency may identify pregnancies that require further assessment, to include additional sonographic evaluation and possible fetal echocardiography. Further evaluation is required to assess the role of nuchal translucency screening in the general population.