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目的:阐明对于高龄孕妇进行产前诊断及遗传咨询的重要性。方法:对2009年2月~2013年1月1 318例高龄孕妇在孕中期进行羊膜腔穿刺产前诊断及羊水细胞培养,对胎儿染色体核型进行分析。结果:胎儿染色体异常检出率为1.97%,经过遗传咨询20例非整倍体染色体异常终止妊娠;7例羊水嵌合体根据嵌合比例、脐带血穿刺是否合并超声异常以及知情同意原则进行遗传咨询,其中3例继续妊娠,4例终止妊娠。结论:高龄孕妇需要专业的遗传咨询
Objective: To clarify the importance of prenatal diagnosis and genetic counseling for advanced pregnant women. Methods: From February 2009 to January 2013, 1 318 pregnant women underwent amniocentesis prenatal diagnosis and amniotic fluid cell culture in the second trimester. The fetal karyotypes were analyzed. Results: The detection rate of fetal chromosomal abnormalities was 1.97%. After genetic counseling, 20 cases of aneuploidy terminated abnormalities of pregnancy. Seven cases of chimerism received genetic counseling based on the proportion of chimerism, cord blood puncture with ultrasound abnormalities and the principle of informed consent , Of which 3 cases continued pregnancy, 4 cases termination of pregnancy. Conclusion: Elderly pregnant women need professional genetic counseling