嘉兴地区高龄孕妇的产前筛查与产前诊断

Prenatal screening and prenatal diagnosis of elderly pregnant women in Jiaxing

目的探讨高龄孕妇唐氏综合征血清学筛查在产前诊断唐氏综合征缺陷儿中的作用,降低出生缺陷的发病率,提高优生优育;方法高龄孕妇唐氏综合征血清学筛查(唐筛阳性组和唐筛阴性组)中286例行羊膜腔穿刺,羊水细胞培养、染色体核型分析;结果 3634例高龄孕妇中产前筛查唐筛阳性706例(占19.43%),唐筛阴性的单纯年龄高风险孕妇2928例(占80.57%),羊水细胞培养成功率为100%,唐筛阳性者706例孕妇中在超声引导下行羊水穿刺142例,占20.11%;检出率1.42%,唐筛阴性的单纯年龄高风险孕妇2928例中在超声引导下行羊水穿刺144例,占4.92%,检出率0.31%;结论唐筛阳性的高龄孕妇进行羊水穿刺检查能更有效检出唐氏综合征患儿,提高优生优育的质量,降低了出生后婴儿缺陷的发病率,对国家优生优育的政策起到了重要的维护作用。

Objective：To investigate the age of pregnant women serum screening of Down′s syndrome in prenatal diagnosis of Down syndrome defects in children′s role in reducing the incidence of birth defects,improve health brith;Methods：elderly pregnant women serum screening of Down′s syndrome（Down′s screen positive group and negative group in Down′s screen）286 cases underwent amniocentesis,analysis amniotic fluid cell culture and chromosome karyotype;Results：Of 3634 cases of advanced maternal age screening before the middle of Down′s screen was positive in 706 cases（19.43%）,high risk pregnant women age alone Down′s screen 2928 cases negative（80.57%）,the success rate of amniotic cell culture was 100%,Down′s screen were positive in 706 cases of pregnant women underwent ultrasound-guided amniocentesis 142 cases,accounting for 20.11%;the detection rate of 1.42%,Down′s screen negative age alone in 2928 cases of high risk pregnant women underwent ultrasound-guided amniocentesis in 144 cases,accounting for 4.92%,the detection rate was 0.31%;Conclusion：Down′s screening positive amniocentesis for pregnant women can be more effective in the detection of children with Down syndrome,improve the quality of health brith,reduce the incidence rate of birth defects after birth,the birth of the national policy has played an important role in maintaining.