5468例中孕期母血清学产前筛查结果分析

An analysis about the serum prenatal screening results of 5468 cases who in the second trimester maternal

目的 探讨中孕期母血清学标志物甲胎蛋白（AFP）、游离绒毛膜促性腺激素β亚基（Free-βh CG）和游离雌三醇（u E3）进行胎儿常见染色体异常和开放性神经管缺陷（NTD）筛查的临床价值。方法 采用时间分辨免疫荧光分析法对荆门地区5468例孕15-20^＋6周的孕妇进行血清AFP、Free-βh CG和u E3检测,结合孕妇年龄、体重、孕周等因素,采用配套软件进行综合风险评估。结果 5468例孕妇中,共筛出高风险孕妇418例,阳性率为7.64%,其中唐氏综合征和18-三体综合征和开放性神经管缺陷高风险阳性率分别为6.91%、0.29%和0.44%。经产前诊断确诊唐氏综合征5例,18-三体综合征1例,其他染色体异常1例,开放性神经管缺陷4例。结论 中孕期母血清学产前筛查是一种简便、经济、无创性的有效检测手段,结合产前诊断,对减少出生缺陷,提高出生人口素质具有重要作用。

Objective： To assess the value of prenatal screening in mid-pregnancy women for fetal common chromosomal abnormality and open neural tube defects that uses the two matern senum markers： （Alpha-fetoprotein, AFP） , free-β human chorinic gonadotrophin （free-13hCG） and unconjugated estriol （uE3） . Methods： Detect maternal serum AFP, free-βhCG and uE3 concentraction in the 15-20^＋6 weeks pregnant women with time resolved fluoresecence immunoassay （TRFIA） , in comb- ination with other factors： age, weeks of pregnancy, weight, etc. Measuring the high risk rate with special software. Results： There were deceted 418 high risk gravida, the detective rate was 7.64%. Among Down＇ s syndrom, 18-trisomysyndrome and neural tube defect high risk rates in screen were 6.91%, 0.29% and 0.44% respectively. 5 case was confirm the Down＇ s syndrome, 1 case was confirm the 18-trisomysyndrome, 1 case was confirm the other chromosomal abnormalities and 4 cases was diagnosed open neural tube defects by the prenatal diagnosis. Conclusions： Maternal serum prenatal screening in second trimester would be a noninvasive and effective means to reduce birth defects, improve population quality.