胎儿染色体异常的产前筛查与诊断  

Prenatal screening and diagnose of fetal chromosomal abnormality.

作　　者：郭晓玲[1] 钟进[1] 张国华[1] 陈志华[1] 卢海英[1] 梁少联[1] 

机构地区：[1]广东省佛山市妇幼保健院,528000

出　　处：《中国优生与遗传杂志》2007年第1期39-40,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨应用母血清标志物产前筛查胎儿染色体异常的临床价值。方法应用罗氏电化学发光全自动免疫分析仪Elecsya．2010对8675例妊娠15-25w孕妇检测血清中的游离雌三醇（uE3）、绒毛膜促性腺激素（HCG）、甲胎蛋白（AFP）。用PRISCA产前筛查风险分析软件计算风险率。以1：250作为截断值，对高风险者进行产前诊断。结果筛查出高风险631例，阳性率为7．27％。其中唐氏综合征高风险528例，占6．08％，18三体高风险103例，占1．18％。接受产前诊断者190例，染色体核型异常者9例，占4．74％。其中三体综合征共3例，占染色体核型检查的1．58％。结论孕中期应用母血清生化指标进行产前筛查，结合产前诊断是减少染色体异常患儿出生的有效方法。Objective ： To study the clinical value of prenatal screening for fetal chromosomal abnormality with mother serum marker. Methods： 8675 cases between 15 and 25 weeks＇ gestational age were detected liberation Estriol, Chorionie Gonadotrophin, alpha - fetoprotein in serum with electruchemiluminescence actual immunity analysator （Elecsys, 2010） and the risk rates were calculated with prenatal screening risk analysis software. The pregnant women with 1 ： 250 as cutoff value of high risk underwent prenatal diagnose. Results： The positive rate was 7.27% （631 cases） with 6. 08% （528 cases） of Down＇s syndrome and 1.18% （ 103 cases） of 18 - trisome syndrome. 190 cases underwent prenatal diagnosed among the high risk pregnant women. The rate of chromatosome caryogram abnormality was 4. 74% （9 cases） with 1.58% （3 cases） of 18 - trisome among which. Conclusion： It＇s effective to decrease the birth of fetal chromosomal abnormality by undergoing prenatal screening and diagnose with mother serum biochemical indicator in the second trimester.

关 键 词：胎儿 染色体异常 产前筛查 母亲血清标志物 

分 类 号：R714.5[医药卫生—妇产科学]