First trimester monitoring of a pregnancy at risk for glucose phosphate isomerase deficiency

Abstract

First trimester prenatal diagnosis was offered to the mother of a child affected by severe haemolytic anaemia due to glucose phosphate isomerase (GPI) deficiency. The mutant enzyme was characterized by an increased thermal lability. Both parents had 50 per cent normal red cell GPI activity. We have shown that the homozygous and heterozygous genotypes can be clearly distinguished from each other and controls by combinations of the measurement of enzyme activity and enzyme thermal lability. Examination of trophoblast cells obtained at 9 weeks of gestation led to the diagnosis of a GPI heterozygous fetus. The result was confirmed by analysis on uncultured and cultured amniotic fluid cells sampled at 16 weeks and by red blood cell studies of the healthy newborn. Prenatal diagnosis of GPI deficiency is indicated in families with previous cases resulting in severe haemolysis and mainly with the conservative view of arranging appropriate therapeutic measures for affected fetuses.

Successful treatment of fetal hemolytic disease due to glucose phosphate isomerase deficiency (GPI) using repeated intrauterine transfusions: a case report

“…In the literature, there is scarcity of publications on prenatal diagnosis of GPI deficiency 1 , 2 . Whitelaw et al.…”

“…Dallapiccola et al. provided a first trimester GPI deficiency diagnosis on trophoblast cells obtained from chorionic villus sampling 1 .…”

“…To date, only two cases of prenatal diagnosis of GPI deficiency have been reported. 1 , 2 . Additionally, cases of postnatal diagnoses of hydrops caused by GPI deficiency were documented, usually without survival of the affected child 2 , 3 .…”

Isoenzymic Analysis of Fifteen Non-Lysosomal Enzymes in Human Chorionic Villi

“…Thus, pregnancies at risk for GPI and TPI deficiencies have been monitored by trophoblast cell studies [31,32].…”

Alkaline Phosphatase Expression in Human Chorionic Villi

“…Sharing the same ge netic constitution of the embryo, trophoblast studies provide biochemical and molecular knowledge of early fetal development. In this respect, CV analysis has also provided the basis for first trimester fetal diagnosis of sev eral enzymopathies [1][2][3].…”