孕中期产前筛查的临床意义  

Clinical significances of prenatal screening in the second trimester of pregnancy

作　　者：陆碧玉 黄际卫 黄诚 

机构地区：[1]柳州市妇幼保健院医学优生遗传科 [2]柳州市出生缺陷与预防控制重点实验室,广西柳州545001

出　　处：《中国优生与遗传杂志》2016年第9期33-35,共3页Chinese Journal of Birth Health & Heredity

基　　金：柳州市科学研究与技术开发计划课题(合同号:2014G020404)

摘　　要：目的探讨孕中期产前筛查的临床意义。方法用化学发光法对孕15w^20+6w的36294例孕妇进行产前筛查,对筛查高风险孕妇做进一步介入性胎儿羊水或脐血染色体核型分析。结果 36 294例孕中期产前筛查孕妇中,筛查高风险孕妇为2167例,筛查阳性率为5.97%;2167例高风险孕妇接受产前诊断的孕妇为821例,产前诊断率为37.89%;经羊水、脐血染色体核型分析确诊胎儿染色体异常17例(2.07%),其中唐氏综合征7例、18三体综合征2例、其它染色体异常8例;染色体多态17例(2.07%),其中9号染色体倒位有13例。结论孕中期母血清三联产前筛查是检测胎儿异常的有效途径,对降低出生缺陷,提高人口素质有重要意义。Objective：To study the clinical significances of prenatal screening in the second trimester of pregnancy. Methods：36 294 pregnant women whose gestational weeks were between 15 to 20＋6 weeks were performed prenatal screening with chemiluminescence,and high-risk pregnant women were prenatal diagnosed by amniotic fluid cytology. Results：2167 pregnant women were screened at high risk among those 36 294 mid-pregnant women who were performed prenatal screening. The positive rate of the screening was 5.97%. 821 of these 2167 pregnant women at high risk took the prenatal diagnosis and the rate of prenatal diagnosis was 37.89%. 17（2.07%） fetuses were diagnosed with chromosomal abnormalities after taking amniotic fluid or cord blood. Karyotype analysis revealed 7 cases with Down′s syndrome. 2 cases with 18-trisomy syndrome and 8 cases with some other chromosomal abnormalities,respectively. There were also 17 chromosome polymorphism（2.07%）,including 13 cases of inv（9）. Conclusions：Triple screening with serum in second-trimester women is an efficient way to detect the fetal chromosomal abnormalities and there are significant meanings in reducing the birth defect and increase the population quality.

关 键 词：产前筛查 唐氏综合征 产前诊断 

分 类 号：R714.55[医药卫生—妇产科学]