高龄二孩孕妇的产前诊断结果

发布时间：2018-07-21 16:05

【摘要】：目的分析"全面二孩"政策下,高龄妊娠产前诊断胎儿染色体异常的发生率,为高龄人群提供适宜的产前诊断策略。方法统计2015年1月至2016年12月在我院医学遗传中心行介入性产前诊断10 607例中3 569例高龄孕妇的胎儿染色体核型分析结果,其中854例同时行染色体微阵列分析(chromosomal microarray analysis,CMA)。对比不同年龄组(35~39岁及40岁以上)胎儿染色体异常的发生率及异常类型分析。结果 10 607例产前诊断中,高龄妊娠比例33.6%;二孩政策开放后,有产前诊断需求的高龄孕妇增加,由27.2%上升到37.9%,胎儿染色体异常的检出率分别为7.9%与10.8%,差异显著;常染色体非整倍体的检出率为5.2%与7.8%,2016年比2015年显著增高,但其它类型染色体异常无差异;3 569例高龄妊娠中有854例同时行CMA,CMA阳性率分别为39.4%与26.7%,CMA是染色体核型分析的有利补充,对染色体微缺失与微重复检测有重要意义。结论 2016年因高龄行产前诊断的孕妇增加,胎儿染色体异常的检出率增加;胎儿染色体异常与孕妇年龄密切相关。对高龄妊娠,孕前应遗传咨询、孕后需产前诊断排除胎儿染色体异常。
[Abstract]:Objective to analyze the incidence of fetal chromosomal abnormalities in prenatal diagnosis of elderly pregnancy under the policy of "comprehensive two-child", and to provide a suitable prenatal diagnosis strategy for the elderly. Methods from January 2015 to December 2016, the results of chromosome karyotype analysis of 3 569 fetuses in 10 607 cases of interventional prenatal diagnosis in our Medical genetic Center were analyzed, including 854 cases of which (chromosomal microarray analysis was performed simultaneously. To compare the incidence and type of chromosomal abnormalities in different age groups (35 ~ 39 years old and over 40 years old). Results in 10 607 cases of prenatal diagnosis, the proportion of elderly pregnant women was 33.60.After the opening of the two-child policy, the number of elderly pregnant women with prenatal diagnosis requirements increased from 27.2% to 37.9%, and the detection rate of fetal chromosomal abnormalities was 7.9% and 10.8 respectively, the difference was significant. The detection rate of autosomal aneuploidy was 5.2% and 7.8, and it was significantly higher in 2016 than in 2015. However, the positive rates of CMA-CMA were 39.4% and 26.7%, respectively, in 854 out of 3 569 elderly pregnancies with other types of chromosomal abnormalities. It is of great significance for the detection of chromosome microdeletion and microrepetition. Conclusion in 2016, the detection rate of fetal chromosomal abnormalities was increased due to the increase of prenatal diagnosis in the elderly women, and the fetal chromosomal abnormalities were closely related to the pregnant women's age. For advanced pregnancy, genetic counseling should be carried out before pregnancy, and prenatal diagnosis is necessary to exclude fetal chromosomal abnormalities.
【作者单位】：广东省妇幼保健院医学遗传中心;
【基金】：广东省医学科研基金资助项目(编号:A2013079)
【分类号】：R714.5

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