Comparative study of 15 lysosomal enzymes in chorionic villi and cultured amniotic fluid cells. Early prenatal diagnosis in seven pregnancies at risk for lysosomal storage diseases

Abstract

A large number of chorionic villi samples obtained from women undergoing elective first trimester termination of pregnancy was analysed by enzyme assays similar to those applied to cultured amniotic cells. The levels of 15 lysosomal enzymes were compared to those observed in tissue cultures of amniotic cells obtained through amniocentesis at 16-18 weeks of pregnancy and the results were discussed in order to assess the usefulness of trophoblast biopsy for first trimester diagnosis of hereditary lysosomal diseases. The data suggest the applicability of this source of fetal cells for prenatal diagnosis of fifteen respective genetically determined enzyme deficiencies with the probable exception of alpha-L-iduronidase deficiency. Enzyme determinations were performed on chorionic villi samples of two pregnancies at risk for Tay-Sachs disease, three pregnancies for GM1 gangliosidosis type 1, one for mucopolysaccharidosis type VI and one for Wolman's disease.

First trimester chorionic villi sampling and direct chromosome preparations

“…The biochemical disorders that are currently diagnosable by CVS include a and B thalassemia, Tay-Sachs disease, GMI gangliosidosis type 1, Mucopolysaccharidosis type VI, Hunters syndrome, and Krabbe's disease (Williamson et al 1981, Old et al 1982, Grebner & Jackson 1985, Goossens et al 1983, Poenaru et al 1984, Kleijer et al 1984a, b, Gatti et al 1985. At present alpha fetoprotein values cannot be determined from villi samples and normal values for maternal serum AFP levels for 9-11 weeks gestation are currently not available.…”

Prenatal enzymatic diagnosis of lysosomal storage diseases using cultured amniotic cells, uncultured chorionic villus samples, and fetal blood cells: Hacettepe experience

“…CVSs were homogenized in distilled water with a glass‐glass homogenizer. They were centrifuged and supernatants were used for enzyme analysis as described previously . All samples during CVS were microscopically assessed for chorionic villus purity by an expert embryologist.…”

“…16 Hexosaminidase A, beta-galactosidase, arylsulfatase A, alpha galactosidase, and cerebroside beta-galactosidase activities were determined using 5 to 15,20 to 50, 100 to 400, 50 to 200, and 100 to 400 of proteins, respectively. 13,14 Enzyme activities are expressed as nmol/mg pr/h. What's already known?…”

Prenatal diagnosis of hunter syndrome using chorionic villi

“…At her first pregnancy prenatal diagnosis was offered. Biopsy of chorionic tissue was done in the 10th week by transcervical biopsy with forceps under ultrasound guidance (Gatti et al, 1985). Maternal decidua was separated from villi under the microscope; some villi were used for direct chromosome analysis and the rest was washed 2-3 times with 0-9 per cent sodium chloride and sent frozen by air from Genoa to Naples, together with one control sample of villi obtained from another pregnancy, at risk for chromosomal abnormality.…”

“…Use of chorionic villi has been developed for prenatal diagnosis of major genetic abnormalities (Howell et al, 1983;Simoni et al, 1983) and recently has been applied to the early identification of lysosomal disorders (Besanqon et al, 1984;Fensom et al, 1984 ;Gatti et al, 1985 ;Grebner et al, 1983 ;Pergament et al, 1983 ;Poenaru et al, 1984;Simoni et al, 1984;Tsvetkova et al, 1983).…”