[Hygroma colli in the ultrasound image as an early indication of fetal Ullrich-Turner syndrome]

Abstract

Fetal chromosomal anomalies are frequently associated with malformations of the lymphatic system, which occur with a wide variability as local edema or generalized hydrops of the fetus. From January 1, 1988 to December 31, 1989 chromosomal analysis were performed in two patients, because ultrasound examination revealed large cystic septated sacs in the nuchal area and severe fetal edema. In both cases the diagnosis was: Turner's syndrome XO. As in more than a half of all cases with nuchal hygromes in ultrasound Turner's syndrome and furthermore in 25% other chromosomal anomalies are found, the value of early and subtle ultrasound examination is to be emphasized. In every case with a sonographic suspicion of an abnormal nuchal area of the fetus, specific prenatal diagnostic investigations should be performed, because of the rare, but possible event of involution of fetal cystic hygroma in ultrasound.