妊娠中期唐氏筛查在高龄孕妇产前诊断中必要性探讨

Approach the necessary of prenatal screening about down syndrome from of advanced materal age in pregnancy trimester

目的探讨唐氏筛查在高龄孕妇产前诊断中的意义。方法有产前诊断指征的高龄孕妇899人,孕中期17-24周行羊膜腔穿刺,取羊水检查胎儿染色体。结果发现染色体异常6例在146例唐氏综合症筛查阳性(即孕妇血清甲胎蛋白(AFP)和游离性雌三醇(uE3)以及游离人绒毛膜促性腺激素(-βhCG)三联指标检测,将三联指标测定值输入唐氏综合征风险计算软件,以1/270为高危切割值,≥1/270确定为唐氏综合征筛查阳性)的高龄孕妇中,发现染色体异常6例唐氏综合征发生率为4.11%(6/146),高龄孕妇中未行唐氏筛查人数750人次,染色体异常人数12人,唐氏综合征发生率0.67%(5/750)。结论对高龄孕妇行孕中期血清血液筛查胎儿唐氏综合征,其筛查效率高于孕中期未行血清血液筛查的高龄孕妇,建议对高龄孕妇行孕中期胎儿唐氏综合征产前筛查。

Objective Approach the meaning of prenatal screening about down syndrome in prenatal diagnosis from pregnant women of advanced maternal age.Methods Amniocentesis were performed in 899 pregant women of advanced materal age with the indiations of prenatal diagnosis during 17-24 gestational weeks and fetal chromomal karyotypes were examimed in amniotic fluid.Results 6 abnomal chromosomal karyotypes were found in 146 pregnant women with an increased risk of DS（≥1/270）（chose alpha-fetoprotein（AFP）and free E3（uE3）and free β-hCG）.Patients with an increased risk of DS（≥1/270）.（.Trisomy 21 was 4.11%（6/146）.12 abnomal chromosomal karyotypes were found in 753 pregnant women without prenatal screening.Trisomy 21 was 0.67%（5/750）.Conclusion It is higher effectiness among women of advanced maternal age about prenatal screening than without prenatal screening among women of advanced maternal age in pregnancy trimester.To suggest prenatal screening among women of advanced materal age in pregnancy trimester.