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自用直接法分析孕早期CVS染色体以来,发现此法和用其它组织所建立的核型出现误差,如18三体曾出现假阴性结果。作者报告1例健康,29岁,第二次妊娠的妇女。在妊娠30周用声谱仪检查发现:羊水过多并单侧扩大、多囊肾、胃充盈差,怀疑有染色体畸变,在妊娠30.6周进行穿腹CVS,获取40mg绒毛进行染色体直接分析,同样获取20ml羊水进行细胞培养,绒毛膜细胞染色体分析为正常核型(46,XX),而培养的羊水细胞核型是47,XX+18。妊娠35周时,分娩出一个体重1190克的
Since the early detection of CVS chromosomes in the first trimester of pregnancy, it has been found that this method and the karyotypes established by other tissues have errors, such as false negative results of trisomy 18. The authors report a healthy, 29-year-old, second pregnancy woman. 30 weeks of pregnancy by sonography examination found: polyhydramnios and unilateral enlargement, polycystic kidney, poor gastric filling, suspected chromosomal aberrations in the 30.6 weeks of pregnancy peritoneal CVS, 40mg flu was obtained for direct chromosomal analysis, the same access to 20ml Amniotic fluid was used for cell culture. Chorionic cell chromosome analysis was normal karyotype (46, XX), whereas cultured amniotic fluid karyotype was 47, XX + 18. 35 weeks of gestation, giving birth to a weight of 1190 grams