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目的通过对6389例孕中期不同产前诊断指征高危孕妇的胎儿羊水染色体核型分析,探讨胎儿染色体异常核型的类型及发生频率,为有效开展产前诊断提供基础数据。方法经腹羊膜腔穿刺抽取6389例高危孕妇羊水20ml,进行细胞培养,制备染色体标本,分析胎儿染色体核型。结果 6389例孕妇中,羊水细胞培养成功6348例,成功率为99.36%。检出异常染色体核型243例,异常检出率为3.80%。不同产前诊断指征分组中的异常检出率不同,以高龄孕妇组异常率最高,为4.47%。结论羊水细胞染色体核型分析是产前诊断的重要手段,高龄孕妇、母血清筛查高风险及超声显示的胎儿异常是产前诊断的重要指征。综合应用多种筛查及诊断方法,对于预防和控制出生缺陷意义重大。
Objective To analyze the karyotype of fetal amniotic fluid in 6389 pregnant women with high risk of prenatal diagnosis, and to explore the types and frequency of fetal karyotype abnormalities and to provide basic data for prenatal diagnosis. Methods A total of 6389 cases of amniotic fluid of high risk pregnant women were drawn by transabdominal amniocentesis and cultured for cell culture. Chromosome samples were prepared for fetal karyotype analysis. Results 6389 pregnant women, amniotic fluid cell culture 6348 cases successfully, the success rate was 99.36%. 243 cases of abnormal chromosome karyotype detected, the abnormal detection rate was 3.80%. Different anomaly detection rates in different prenatal diagnosis indications subgroups, with the highest anomaly rate of 4.47% in advanced pregnant women group. Conclusion Chromosome karyotype analysis of amniotic fluid cells is an important method of prenatal diagnosis. High-risk pregnant women, high risk of maternal serum screening and fetal abnormality by ultrasound are important indications for prenatal diagnosis. Comprehensive application of a variety of screening and diagnostic methods for the prevention and control of birth defects is of great significance.