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目的探讨羊水染色体分析在孕中期孕妇产前诊断中的应用,检出染色体异常核型胎儿,从而减少出生缺陷。方法对我院2011年498例孕中期(18-24w)的高危孕妇在B超指导下经腹行羊膜腔穿刺,抽取羊水20ml,取羊水细胞培养,G显带320-400条带阶段进行羊水染色体核型分析。结果 498例羊水细胞培养成功493例,成功率98.99%,发现异常核型29例,异常率为5.82%,其中21-三体2例,三倍体1例,特纳综合征2例,嵌合体1例,罗伯逊易位1例,倒位1例,染色体多态性21例。结论在优生优育中,羊水染色体分析在产前诊断中起着重要的作用。
Objective To investigate the application of amniotic fluid chromosomal analysis in the prenatal diagnosis of pregnant women in the second trimester, and to detect chromosomal abnormality karyotype fetus so as to reduce birth defects. Methods A total of 498 pregnant women with high risk of pregnancy (18-24w) in our hospital underwent transabdominal amniocentesis under the guidance of B-mode ultrasound, 20ml of amniotic fluid was drawn, amniotic fluid cell culture was taken, and 320-400 strips of G- Chromosomal karyotype analysis. Results 498 cases of amniotic fluid cells were successfully cultured in 493 cases, with a success rate of 98.99%. There were 29 cases of abnormal karyotype, the rate of abnormality was 5.82%. Among them, 21 cases of trisomy 21, 1 case of triploid and 2 cases of Turner’s syndrome were embedded 1 case of confluence, 1 case of Robertson’s translocation, 1 case of inverted position and 21 cases of chromosomal polymorphism. Conclusion In prenatal and postnatal care, amniotic fluid chromosome analysis plays an important role in prenatal diagnosis.