Prenatal diagnosis of genetic disorders.
Open Access
- 1 June 1976
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 13 (3), 182-194
- https://doi.org/10.1136/jmg.13.3.182
Abstract
Three hundred and fifty pregnancies were monitored by transabdominal amniocentesis in the fourteenth to sixteenth week of gestation followed by karyotyping or biochemica assays of cultured amniotic fluid cells and analysis of alpha-fetoprotein in the amniotic fluid supernatant. The pregnancy was interrupted in 36 cases (10%) either becasue of a fetal abnormality or the presence of a male fetus in pregnancies at risk for an X-linked disease. Four chromosomal aberrations were found in 87 pregnancies tested because of advanced maternal age. In 101 pregnancies with a recurrence risk of Down's syndrome, 2 fetuses with an abnormal karyotype were detected. In 11 cases, in which 1 parent was a carrier of a balanced translocation, 2 unbalanced fetal karyotypes were found. Fetal chromosome studies in 43 pregancies at risk for an X-linked disease indicated the presence of a male fetus in 21 cases. Prenatal diagnosis of 11 different metabolic diseases was performed in a total of 34 cases. Microchemical techniques were used to allow completion of the diagnosis of seven different enzyme deficiencies within 9 to 22 days after amniocentesis. Alpha-fetoprotein assay in the amniotic fluid supernatant of 47 pregnancies at risk for an open neural tube defect resulted in the detection of 3 anencephalic fetuses during the second half of pregnancy. The safety and reliability of amniocentesis and the possible effects on the outcome of pregnancy are evaluated. Prenatal diagnosis offers a promising alternative for parents who are at risk of having a child with a genetic disease which can be detected in amniotic fluid or in cultured amniotic fluid cells.This publication has 90 references indexed in Scilit:
- Tay-Sachs and Sandhoff's disease: Intergenic complementation after somatic cell hybridizationExperimental Cell Research, 1974
- Methodology of the quantitative cytochemical analysis of single or small numbers of cultured cellsJournal of Molecular Histology, 1974
- Prenatal diagnosis of genetic diseaseLife Sciences, 1974
- Mycoplasma Contamination of Cultured Amniotic Fluid Cells: Potential Hazard to Prenatal Chromosomal DiagnosisScience, 1974
- Lysosomal enzyme levels in human amniotic fluid cells in tissue culture. I. α-glucosidase and β-glucosidaseLife Sciences, 1973
- The effect of environmental pH on the growth of normal and malignant cellsJournal of Cellular Physiology, 1973
- Gm1-gangliosidosis type I: In utero detection and fetal manifestationsThe Journal of Pediatrics, 1973
- Effect of culture conditions on enzyme activities in cultivated human fibroblastsExperimental Cell Research, 1972
- Pitfalls in prenatal diagnosis resulting from chromosomal mosaicismThe Journal of Pediatrics, 1972
- Prenatal detection of genetic defectsThe Journal of Pediatrics, 1969