Gamma‐glutamyl transferase activity in the amniotic fluid of fetuses with chromosomal aberrations and inborn errors of metabolism

Abstract

The activity of gamma‐glutamyl transferase (GGT) was measured in amniotic fluid collected between the 16th and 30th weeks of gestation from 81 pregnancies with fetuses affected by chromosomal aberrations, nine with different types of inborn errors of metabolism, two with hemophilia A and one with fragile X syndrome. The GGT activity was compared with that from 1000 normal pregnancies and deliveries resulting in healthy newborns. Contamination of amniotic fluid by blood did not affect the GGT activity. Pathologically decreased activity was found in 25 of 56 amniotic samples from pregnancies with fetal autosomal chromosomal aberrations (44.6%). It was decreased in 15 of 35 pregnancies with fetal trisomy 21 (43%), in 11 of 19 pregnancies with fetal trisomy 18 (58%), in one of three pregnancies with fetal trisomy 13 and in two pregnancies with fetal trisomy 8 and triploidy, respectively. In only three of 16 pregnancies with fetal sex chromosomal aberrations was the GGT activity low. Increased GGT activity was found in three of six pregnancies with unbalanced structurally rearranged karyotypes of the fetuses. Normal GGT activity was observed in all nine amniotic fluid samples from pregnancies with fetuses affected with different forms of inborn errors of metabolism diseases, in the two pregnancies with hemophilia A and in the pregnancy with a male fetus with fragile X syndrome. These and earlier findings indicate that the GGT activity in amniotic fluid is mostly decreased in pregnancies with severe fetal developmental abnormalities, such as autosomal chromosomal aberrations, which could possibly be secondary to an alteration of the microvillar transport system of GGT to the amniotic fluid. GGT testing could thus be a valuable screening method for routine use in prenatal diagnosis of second‐trimester pregnancy.

Reference values for γ‐glutamyl‐transferase in amniotic fluid in normal pregnancies

“…This tool for the diagnosis is based upon a small number of case reports and one small series; thus caution should be used when a diagnosis is relied upon it. Other pathologies found to be correlated with low GGT levels in amniotic fluid are cystic fibrosis due to reduced bowel movement, and chromosomal aberrations (mainly trisomy 13) (Macek et al, 1987). High levels of GGT were related to duodenal stenosis, esophageal atresia, and chromosomal aberrations (Burc et al, 2001).…”