孕中期检测血清AFP、beta-HCG及uE3对唐氏综合征筛查的临床意义

The clinical significance of serum AFP,beta-HCG and uE3 screening defect for Down syndrome in mid-pregnancy

目的探讨分析孕中期血清中甲胎蛋白、人绒毛膜促性腺激素及游离雌三醇的检测对唐氏综合征筛查的临床意义。方法从2009年6月—2014年6月期间来许昌襄城中西医结合医院检查的1 960例孕中期妇女进行甲胎蛋白、人绒毛膜促性腺激素及游离雌三醇三项指标检测,结合孕妇的年龄、体重、孕周等因素,通过配套的风险评估软件推测孕妇怀有唐氏综合征患儿的风险,对于高风险的孕妇再进一步行B超或羊水细胞染色体进行确诊,观察不同年龄孕妇所产婴儿唐氏综合征的发生情况。结果 1 960例孕中期孕妇通过血清AFP、betaHCG及u E3的检测,筛查出高风险176例,可疑阳性率9.1%,其中唐氏综合征高风险104例,18-三体高风险36例,神经管缺陷高风险38例,经B超或羊水细胞染色体进行确诊唐氏综合征24例,18-三体综合征8例,神经管缺陷10例;35岁以上的孕妇唐氏综合征阳性风险率显著高于35岁以下的孕妇,差异具有统计学意义(P<0.05)。结论孕中期检测血清中AFP、beta-HCG和u E3能够有效筛查出唐氏综合征阳性高风险孕妇,结合羊水细胞染色体进一步确诊,避免了唐氏综合征患儿的出生率,对于优生工作起到极大的辅助作用。

Objective To investigate the clinical significance of serum AFP, beta - HCG and uE3 screening defect for Down syndrome in mid - pregnancy. Methods Totally 1960 cases of pregnant women examined in our hospital were se- lected during the period from October 2009 to January 2014. The alpha -fetoprotein （AFP） , human chorionic gonadotro- pin （ beta - HCG） and free estriol （ uE3 ） index of the pregnant women were indicated. The risk of Down~ syndrome was as- sessed by using the risk assessment software speculate combined with maternal age,weight, gestational age and other fac- tors. The high - risk pregnant women were given further line B - chromosomes diagnosed or amniotic fluid cells to observe the occurrence of Down syndrome births of different age groups of pregnant women. Results By ＇the test of serum AFP, beta - HCG and uE3 of the1960 cases of mid - pregnancy women, 178 cases of high - risk were tested out,the suspected positive rate is 9. 1%, including 104 cases of high risk of Down syndrome ,36cases of 18 - trisomy in high - risk and 38 cases of nerve tube defects in high - risk. 24 cases of Down syndrome ,8 cases of 18 - trisomy syndrome and 10 cases of or amniotic fluid ceils by B - chromosomes diagnosed 24 cases of neural tube defects were diagnosed by B ultrasound or amniotic fluid cells chromosomes. Pregnant women over the age of 70 are of the higher risk for Down syndrome, signifi- cantly higher than that under the age of 70, the difference was statistically significant （ P 〈 0. 05 ）. Conclusion The ser- um AFP, beta - HCG and uE3 screening defect for Down syndrome in mid - pregnancy can be effectively screened posi- tive for high - risk pregnant women. The high - risk pregnant women can have further diagnosis combined with amniotic fluid cell chromosome. This method can effectively avoide the birth of children with Down syndrome and it has played a very large supporting role for eugenics.