Pathophysiology of Increased Fetal Nuchal Translucency Thickness

SummaryIncreased fetal nuchal translucency thickness is associated with trisomy 13, trisomy 18, trisomy 21, Turner syndrome, other sex chromosome abnormalities, as well as many fetal anomalies and genetic syndromes. This article provides a comprehensive review of the cardinal proposed pathophysiology including altered composition of the extracellular matrix, abnormalities of the heart and great arteries, and disturbed or delayed lymphatic development.