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目的探讨羊水细胞培养染色体核型分析技术在细胞遗传学产前诊断中的应用及意义。方法 1341例妊娠17~28周的孕妇在超声引导下行羊膜腔穿刺术,进行细胞培养及染色体核型分析。结果 1341例标本一次培养成功1330例,培养成功率为99.2%。共检出异常核型90例,异常率为6.8%,其中21-三体24例,18-三体7例,其他异常核型59例。结论羊水细胞学检查作为一项产前诊断技术对于指导优生优育,降低缺陷儿的出生具有重要意义。
Objective To investigate the application and significance of amniotic fluid cell culture karyotype analysis in prenatal diagnosis of cytogenetics. Methods 1341 pregnant women with gestational age from 17 to 28 weeks underwent amniocentesis under ultrasound guidance for cell culture and chromosome karyotype analysis. Results 1330 cases were successfully cultured in 1330 cases, the success rate of culture was 99.2%. A total of 90 abnormal karyotypes were detected, with an abnormality rate of 6.8%. There were 24 cases of 21-trisomy, 7 cases of 18-trisomy and 59 cases of other abnormal karyotypes. Conclusions Amniotic fluid cytology is an important prenatal diagnosis technique for guiding prenatal and postnatal care and reducing birth defects.