First-trimester diagnosis of nuchal anomalies: significance and fetal outcome.

High-resolution real-time ultrasonography now permits the differentiation between nuchal translucencies and cystic hygromata of the neck in the first trimester. A series of 85 nuchal anomalies are presented that were diagnosed by ultrasonography at 9-14 weeks' gestation; their association with chromosomal defects and fetal outcome are also presented. Chromosomal anomalies were found in 8/29 nuchal translucencies and in 16/56 cystic hygromata of the neck. However, in fetuses with normal karyotype, additional defects were diagnosed in l0/40 fetuses with cystic hygromata and in none with nuchal translucency. These data may be important for the management of these conditions and for counselling the patients toward further pregnancy. Copyright 1992 International Society of Ultrasound in Obstetrics and Gynecology