高龄妊娠与唐氏筛查高风险的产前诊断染色体异常分析

发布时间：2018-11-04 20:10

【摘要】：目的探讨唐氏筛查高风险对高龄妊娠染色体异常是否具有预测意义,为高龄孕妇选择唐氏筛查筛选染色体异常提供科学依据。方法回顾该院2010年1月至2013年6月因高龄妊娠唐氏筛查高风险有产前诊断指征前来咨询的病例共2 335例,所有孕妇年龄均大于或等于35岁,平均(37.43±2.93)岁。病例均进行了羊水或脐带血细胞绒毛培养染色体核型分析,培养成功率99.5%,然后对染色体核型结果进行分析。结果 2 335例高龄孕妇中产前诊断染色体结果异常的共有177例,异常率为7.58%。在异常的病例中,年龄越大,染色体异常的比率越高,除染色体多态性外,染色体三体及染色体臂间倒位为最常见的染色体异常。结论高龄孕妇进行唐氏筛查能提高胎儿染色体异常的筛查率,对于高龄妊娠唐氏筛查高风险的孕妇,需进行产前诊断以排查胎儿染色体异常。
[Abstract]:Objective to explore the predictive significance of high risk of Down's screening for chromosomal abnormalities in elderly pregnant women, and to provide scientific basis for screening chromosomal abnormalities in elder pregnant women. Methods from January 2010 to June 2013, a total of 2 335 pregnant women with high risk of prenatal diagnosis were reviewed. All the pregnant women were older than or equal to 35 years old, with an average age of (37.43 卤2.93) years. The chromosome karyotype of amniotic fluid or umbilical cord blood chorionic villi culture was analyzed, and the success rate was 99.5%, and the results of chromosome karyotype were analyzed. Results there were 177 cases of abnormal chromosome results diagnosed before birth in 2 335 old pregnant women, and the abnormal rate was 7.58%. In abnormal cases, the older the age, the higher the rate of chromosome abnormality. Besides chromosome polymorphism, trisomy and interarm inversion are the most common chromosomal abnormalities. Conclusion Down's screening can improve the rate of fetal chromosomal abnormality. Prenatal diagnosis is necessary for the high-risk pregnant women.
【作者单位】：广州医科大学附属第三医院妇产科研究所/广东省产科重大疾病重点实验室/广东省普通高校生殖与遗传重点实验室;
【基金】：国家自然科学基金支助项目(81270745) 广东省科技厅对外合作项目(2013B051000087)
【分类号】：R714.5

【参考文献】