Increased Nuchal Translucency as a Marker for Fetal Chromosomal Defects

Abstract

Background Screening for trisomy 21 (Down's syndrome) by measuring maternal serum alphafetoprotein, chorionic gonadotropin, and estriol concentrations and then performing chorionic-villus sampling or amniocentesis identifies approximately 60 percent of fetuses with this disorder. We used ultrasonography to detect increased nuchal translucency and cystic hygroma, which are characteristic features of fetuses with chromosomal defects.