扬州地区1466例孕妇羊水细胞染色体核型分析

Chromosome karyotype analysis of amniotic fluid cells of 1466 pregnant women in Yangzhou

目的探讨孕妇羊水细胞染色体核型分析在产前诊断中的临床应用价值。方法选择孕16-24周、具有产前诊断指征的孕妇1 466例,在B超引导下行羊膜腔穿刺抽取羊水。经过羊水细胞培养增殖成功后收获细胞,G显带检查分析羊水细胞的染色体核型。结果羊水细胞一次性培养成功率为99.8%。1 466例孕妇中,检出16例异常核型（其中12例21三体,1例18三体,3例染色体异常）和3例染色体多态性。结论羊水细胞染色体核型检查仍然是产前诊断中不可替代的手段。

Objective To explore the clinic value of chromosome karyotype analysis of amniotic fluid cells in prenatal diagnosis.Methods 1 466 cases of pregnant women who had the prenatal diagnosis indexes were selected,and their amniotic fluid specimens were collected through amniocentesis guiding by type-B ultrasonic around the 16 th to 24 th week.Amniotic fluid cells were gained after a successful cell culture.G banding was used for the karyotype analysis of amniotic fluid cells.Results The one-time success rate of cultivation for amniotic fluid cells was 99.8%.In 1 466 cases of pregnant women,there were 16 cases of abnormal karyotype polymorphism（including 12 cases of trisomy 21,1case of trisomy 18,and 3cases of Chromosome abnormalities）and 3cases of chromosomal polymorphism.Conclusion The chromosome karyotype analysis of amniotic fluid cell is still an irreplaceable test in prenatal diagnosis.