Zolotukhina T V, Kuznetsov M I, Kostiuk E V, Shilova N V, Solonichenko V G
Genetika. 1991 Aug;27(8):1481-5.
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.
本文介绍了4例胎儿染色体异常的细胞遗传学产前诊断病例：（1）帕陶综合征；（2）和（4）唐氏综合征；（3）克兰费尔特综合征。已证明脐带穿刺术有助于快速准确地确定胎儿核型。超声数据、孕妇年龄、孕妇血清中AFP、HGG和非结合雌三醇的值是细胞遗传学检查的指征。对胎儿的超声检查结果与流产胎儿尸检数据进行了比较。结果表明超声、细胞遗传学、生化和形态学研究在产前畸形诊断中的重要性。
