唐氏筛查在孕妇产前诊断中的必要性研究

Necessity research of Down syndrome screening in maternal prenatal diagnosis

目的探讨唐氏筛查在孕妇产前诊断中的重要意义。方法于妊娠中期利用孕妇血清中甲胎蛋白(AFP)、人绒毛膜促性腺激素(HCG)、游离雌三醇(UE3)三联标记物进行产前筛查胎儿唐氏综合征,唐氏高风险人群经羊膜腔穿刺术,进行荧光原位杂交技术和羊水培养染色体核型分析进行确诊。结果共筛查3 654例孕妇,其中超过35岁者192例,占筛查总数的5.2%。初筛出DS高危孕妇103例,筛查阳性率为2.81%,接受羊水产前诊断的胎儿染色体异常3例,占2.91%;而没有接受唐氏筛查的383例孕妇中,出现1例唐氏综合征患儿,两组比较,差异有统计学意义(P<0.05)。结论通过血清学的筛查提高了孕妇产前诊断的异常检出率,说明该筛查系统在判断异常妊娠结局方面有重要参考价值。

Objective To study the important significance of Down syndrome screening in the maternal prenatal diagnosis.Methods Maternal serum AFP,β-HCG and free estriol（UE3） were detected in the mid-pregnancy（14-20 weeks） for screening Down syndrome.Then the screened high-risk women were diagnosed by amniocentesis,fluorescent in situ hybridazation and amniotic fluid culture for chromosome analysis.Results A total of 3 654 singleton pregnant women were included in the study.Among them,192 cases were more than 35 years old and accounted for 5.2% of total screening number.By the primary screening,103 cases were found at high risk of Down syndrome with the screening positive rate of 2.81%.Among pregnant women with amniotic fluid prenatal diagnosis,3 cases were found to have abnormal chromosomes and accounted for 2.91%.Among 383 pregnant women without receiving Down syndrome prenatal screening,only 1 cases of Down syndrome was found.Comparing the two groups showed statistical difference（P0.05）.Conclusion The serological screening increases the abnormality detection rate in maternal prenatal screening diagnosis.The screening system has important reference value in judging the abnormal pregnant outcomes.