Since routine prenatal genetic diagnosis has been accepted as a new technique in medicine, its-utilization and application has expanded considerably in recent years. Although prenatal diagnosis of hereditary disease has been carried out only in a
limited number of cases, diagnosis progresses along with the handiness of this procedure and a solid future has been established which can serve as a tool for effective medical intervention in necessary situation.
For this same purpose, 320 cases of amniocentesis and 1020 cases of chorionic villi sampling were performed. The significant cytogenetic findings were analysed from the cultured amniotic fluid cells and chorionic villi in 1,340 samples taken from
July
1986 to December 1993 and reported here in.
1. Advanced maternal age was characterized as the most frequent indication for the cytogenetic analysis showing 54.3% among 1.340 karyotyped.
2. 31 affected fetuses were detected out of 1,340 karyotyped.
3. There were 23 cases of aneuploidy, 1 case of unbalanced translocation. 1 cases of deletion, 1 case of duplication, 1 case of isochromosome, 2 cases of balanced translocation and 2 cases of inversion from 1,340 karyotyped.
4. Fetal loss occurred 2 cases(0.6%) in amniocentesis and 20 cases(2.0%) in chorionic villi sampling.
5. One case of Down's syndrome was screened from the measurement of maternal serum alpha-fetoprotein (MSAFP) and free β-humap chorionic gonadotropin.
6. One case of Down's syndrome was screened from the measurement of maternal serum alpha-fetoprotein (MSAFP) and free β-human chorionic gonadotropin.
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