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目的:通过对妊娠中期高危孕妇的羊水细胞培养及染色体核型分析,对胎儿进行产前诊断。方法:对138例高危孕妇经腹穿刺抽取羊水20ml,进行羊水细胞培养,制备染色体标本进行胎儿染色体核型分析。结果:138例中,培养成功135例,成功率为97.83%,检出异常染色体核型8例,异常检出率为5.80%,其中三体综合征3例,占37.50%;性染色体异常1例,占12.50%;平衡易位1例,占12.50%;倒位2例,占25.00%;其他1例,占12.50%。结论:对具有产前诊断指征的孕妇进行羊水细胞培养及染色体分析是必要的,羊水细胞染色体检查是目前安全、有效、可靠的诊断胎儿染色体病的方法。
OBJECTIVE: To prenatal diagnosis of fetus by amniotic fluid cell culture and chromosome karyotype analysis of high-risk pregnant women in the second trimester of pregnancy. Methods: 138 cases of high-risk pregnant women by abdominal puncture extraction of amniotic fluid 20ml, amniotic fluid cell culture, preparation of chromosome specimens for fetal karyotype analysis. Results: Of the 138 cases, 135 cases were successfully cultured, with a success rate of 97.83%. Eight cases of abnormal chromosome karyotype were detected, the anomaly detection rate was 5.80%, including trisomy syndrome in three cases, accounting for 37.50%. Sexual chromosomal abnormalities Cases, accounting for 12.50%; Balanced translocation in 1 case, accounting for 12.50%; inverted in 2 cases, accounting for 25.00%; the other 1 case, accounting for 12.50%. Conclusion: It is necessary to carry out amniotic fluid cell culture and chromosome analysis in pregnant women with prenatal diagnosis indications. Chromosome examination of amniotic fluid cells is a safe, effective and reliable method to diagnose fetal chromosomal diseases.