Recurrent idiopathic non‐immunologic hydrops fetalis: a report of two families, with three and two affected siblings

Abstract

(Appleman et al. 1988). If NIHF is detected by antenatal ultrasound, especially if recurrent or if the parents are consanguineous, amniocentesis and examination of amniotic fluid and cultured amniocytes for evidence of metabolic storage disease should be performed. After delivery, careful histological examination of the placenta is essential in all cases of unexplained non-immune hydrops in order to look for a storage disorder.Our patient has subsequently had three healthy children. The eldest boy has leucocyte beta-glucuronidase levels consistent with heterozygosity. The second boy and a girl have not been investigated. Ann Harper (1992).We would disagree with the statement in the second paragraph of their discussion that 'the only well reeognised cause of recurrent non-immune hydrops is homozygous alphathalassemia'. This is clearly incorrect since metabolic storage disorders are also a well recognised cause of recurrcnt NIHF (Gillan et al. 1984), and metabolic storage disease was not excluded in these two families. Lack of awareness of storage disorders as a cause of recurrent NIHF and resulting failure to carry out the appropriate investigations means that the diagnosis may be missed. We have reported one such case which confirms the high mortality of recurrent NIHF and its likely causation by a metabolic storage disorder (Nelson eral. 1982). Foamy changes of placental cells in probable b-glucuronidase deficiency associated with hydrops fetalis (J Clin Path, in press). This patient delivered three successive stillborn grossly hydropic male infants between 28 and 31 weeks gestation. The underlying cause was not suspected until histological examination of the oedcmatous placenta of the third baby was performed. Postmortem examination showed no obvious fetal malformations and severe autolysis rendered fetal histology unsatisfactory, but the placenta had many Hofbauer cells containing abundant foamy cytoplasm suggesting a metabolic storage disorder. Investigation of the parents, closely related members of a large in-bred itinerant family, was consistent with both parents being heterozygotes for the beta-glucuronidase (Mucopolysaccharidosis VIT) gene.Mucopolysaccharidosis

Recurrent Non-immune Fetal Hydrops: A Case Report

“…13 Well recognised causes of recurrent NIH are homozygous alpha-thalassaemia and metabolic storage disorders (some types of mucopolysaccharidosis, Gaucher's, gangliosidosis, sialidosis). 14 Alpha thalassaemia is a common genetic disease in our population but was excluded in this case by normocytic erythrocytes in parental blood and absence of severe anaemia on cordocentesis. Beta-glucuronidase deficiency is a rare autosomal recessive condition, of which hydrops fetalis is a common form of presentation.…”