NONIMMUNE HYDROPS-FETALIS WITH GALACTOSIALIDOSIS - CONSEQUENCES FOR FAMILY-PLANNING

At the 28th week of gestation a hydrops fetalis was first detected by ultrasound. At birth a generalized hydrops with Hurler-like craniofaci al dysmorphism, hepatosplenomegaly and a moderate dystostosis multiple x was noted, High urinary excretion of oligosaccharides and a severe d eficiency of neuraminidase and of beta-galactosidase in cultured skin fibroblasts could be found, Thus, a rare early infantile type of galac tosialidosis was diagnosed, The patient died at the age of 3 months be cause of cardiac failure. The consanguineous but otherwise healthy par ents received genetic counselling for further pregnancies and have bee n informed about the possibility of prenatal diagnosis. In view of thi s possibility, the parents decided to have more children. In the secon d pregnancy a severe combined enzyme deficiency had been detected and the pregnancy interrupted. In the third pregnancy prenatal diagnosis r evealed normal fetal enzyme activities. It resulted in a healthy femal e child and in the fourth pregnancy reduced but still in the heterozyg ote level enzyme activities had been found, a healthy boy was born.