[Detection of chromosomal abnormalities using cordocentesis]. / Vyiavlenie khromosomnoi patologii u plodov pri ispol'zovanii kordotsenteza.

ABSTRACT

Four cases of cytogenetic prenatal diagnosis of fetuses with chromosomal aberrations are presented (1) the Patau syndrome; (2) and (4) the Down syndrome; (3) the Klinefelter syndrome. Cordocentesis has been shown to be expedient for rapid and accurate determination of fetus karyotype. Indicative for cytogenetic examination were ultrasonic data, maternal age, the values of AFP, HGG and nonconjugated estreol in maternal serum. Comparison of ultrasonic examination of fetuses with the data on abortus autotopsia was undertaken. The results demonstrate importance of ultrasonic, cytogenetic, biochemical and morphological research in prenatal malformation diagnosis.