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目的探讨高龄孕妇胎儿染色体核型异常的风险,为临床遗传咨询提供帮助。方法对我院进行羊膜腔穿刺的5739例孕妇染色体进行分析,对比高龄和非高龄孕妇(穿刺原因包括筛查高危,B超异常,不良孕产史)胎儿染色体的异常率,同时分析35-37岁,38-40岁,≥41岁三组不同年龄组的高龄孕妇胎儿染色体异常发生率。结果共检出110例异常(不包括染色体遗传多态),总异常率1.95%。非高龄孕妇3585例,异常54例,异常率1.5%。高龄孕妇2154例,异常56例,异常率2.6%。且孕妇年龄的增长与胎儿染色体异常率呈正相关。结论随着孕妇年龄增长,胎儿染色体异常风险增大,对高龄孕妇,应进行常规的产前筛查及产前诊断。
Objective To investigate the risk of fetal chromosomal abnormalities in advanced pregnant women and to provide help for clinical genetic counseling. Methods The chromosomes of 5739 pregnant women who underwent amniocentesis in our hospital were analyzed. The abnormal rates of fetus chromosomes between elder and non-elder pregnant women (reasons of puncture including high risk screening, abnormal B- The incidence of fetal chromosomal abnormalities in the elderly pregnant women of 38-40 years old and ≥41 years of age with different age groups. Results A total of 110 abnormalities (excluding chromosomal genetic polymorphisms) were detected, with a total abnormality rate of 1.95%. 3585 non pregnant pregnant women, 54 cases of abnormal, abnormal rate of 1.5%. 2154 pregnant women, 56 cases of abnormal, abnormal rate of 2.6%. And the increase of maternal age is positively correlated with the abnormal rate of fetal chromosomal abnormalities. Conclusion As the age of pregnant women increases, the risk of fetal chromosomal abnormalities increases. For advanced pregnant women, routine prenatal screening and prenatal diagnosis should be performed.