Prenatal diagnosis of fetal cystic hygromas associated with generalized lymphangiectasis

Ultrasonography has made possible the prenatal diagnosis of many congenital fetal abnormalities. This report describes two cases of bilateral cystic hygromas of the neck associated with generalized lymphangiectasis that were diagnosed by ultrasound. Ultrasonic scans revealed moderate polyhydramnios; thick, edematous placenta and edematous fetus with large cystic mass occupying both sides of the neck and extending to the upper chest wall, ascites, and pleural effusion at gestational ages of 21.5 and 24 weeks, respectively. In one case, chromosomal study from amniotic fluid cell culture revealed X chromosome monosomy, often associated with lymphatic anomalies. The prenatal diagnosis was confirmed at birth: both infants delivered prematurely, were stillborn, and showed gross evidence of cystic hygromas of the neck. In this lymphatic defect, chromosomal analysis may be used for the diagnosis and in genetic counseling for subsequent pregnancies.