title: Prenatal diagnosis of I-cell disease in the first and second trimesters.
abstract: First trimester prenatal diagnosis of I-cell disease (1 case) was based on demonstration of profound deficiency of N-acetylglucosamine 1-phosphotransferase in chorionic villi and in cultured trophoblasts derived from the chorionic villus specimen. Deficiency of this enzyme in cultured amniotic fluid cells obtained via amniocentesis was the basis for prenatal diagnosis of I-cell disease in the second trimester (2 cases). In both procedures, the diagnosis was corroborated by the finding of intracellular deficiency and extracellular elevation of multiple lysosomal enzymes in the fetal cell cultures (trophoblasts and amniotic fluid cells), as well as a significant increase in several lysosomal enzyme activities in the maternal serum.
authors.affiliation: Department of Obstetrics Gynecology, C.S. Mott Center for Human Growth and Development, Wayne State University School of Medicine, Detroit, Michigan 48201.
authors.forename: M R
authors.initials: MR
authors.lastname: Parvathy
authors.forename: D A
authors.initials: DA
authors.lastname: Mitchell
authors.forename: Y
authors.initials: Y
authors.lastname: Ben-Yoseph
mesh_terms: D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology; D002824:Chorionic Villi / Q000201:enzymology; D015193:Chorionic Villi Sampling; D004796:Clinical Enzyme Tests; D005260:Female; D006801:Humans; D008247:Lysosomes / Q000201:enzymology; D009081:Mucolipidoses / Q000175:diagnosis*; D010770:Phosphotransferases / Q000172:deficiency; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D017855:Transferases (Other Substituted Phosphate Groups); D014327:Trophoblasts / Q000201:enzymology
chemical_list: D010770:Phosphotransferases; D017855:Transferases (Other Substituted Phosphate Groups); C030012:UDP-N-acetylglucosamine-lysosomal-enzyme-N-acetylglucosaminephosphotransferase