羊水細胞培養による染色体異常の出生前診断

The methods for cultivation of amniotic fluid cells were described. Transabdominal amniocenteses were performed for prenatal diagnosis of chromosome abnormalities. Successful cultures for karyotyping were accomplished in 12 of 13 samples obtained from 12 patients. In one case karyotypic analysis of cultivated amniotic fluid cells revealed a karyotype of 45, X and then therapeutic abortion was performed. The karyotype of cultivated fetal skin and umbilical cord blood cells was 45, X/45, XX mosaicism. The necropsy of the aborted fetus disclosed pure gonadal dysgenesis. Prenatal genetic diagnosis with cultivated amniotic fluid cells is useful for monitoring of high-risk pregnancies.