唐氏综合征的产前筛查与诊断

Prenatal Screening and Diagnose of Down's Syndrome

目的探讨应用母血清标志物联合超声检查筛查胎儿唐氏综合征的临床价值。方法应用罗氏电化学发光全自动免疫分析仪Elecsys 2010对11257例妊娠15-25周孕妇检测血清中的游离雌三醇、绒毛膜促性腺激素、甲胎蛋白，用PRISCA产前筛查风险分析软件计算风险率。有21333例孕妇应用高分辨彩色超声诊断仪行超声检查。对筛选出的高风险者进行产前诊断。结果母血清标志物筛查出高风险754例，阳性率为6.70%。超声检查筛查出高风险851例，阳性率为3.99%。接受产前诊断者317例，染色体核型异常者25例，占7.89%。检出唐氏综合征共6例，占染色体核型检查的1.89%。结论孕中期应用母血清生化指标联合超声检查筛查胎儿唐氏综合征并结合产前诊断是减少患儿出生的有效方法。

OBJECTIVE To study the clinical value of prenatal screening for Down＇ s Syndrome with mother serum marker. METHODS 11 257 cases between 15 and 25 weeks＇ gestational age were detected liberation estriol, chorionic gonadotrophin, alpha-fetoprotein in serum with electrochemilumine scence actual immunity analysatdr （Elecsys 2010） and the risk rates were calculated with prenatal screening risk analysis software. The pregnant women with high risk underwent prenatal diagnose. RESULTS The positive rate was 6.70% （754 cases） with mother serum marker screening and 3.99% （851 cases） with ultrasound screening. 317 cases underwent prenatal diagnosed among the high risk pregnant women. The rate of chromatosome caryogram abnormality was 7.89% （25 cases） with 1.89% （6 cases） of Down＇ s Syndrome 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 and ultrasound in the second trimester.