【摘要】 目的探讨孕中期产前唐氏综合征筛查对胎儿染色体异常及神经管缺陷的作用,以期降低出生儿缺陷。方法应用时间分辨荧光免疫法对2464例孕15~20周孕妇血清进行甲胎蛋白(AFP)和绒毛促性腺激素(β-hCG)浓度检测,再根据孕妇年龄、孕周、体重等因素通过唐氏筛查软件算出风险系数,阳性切割值为1/250、1/350,对高风险者进行B超、羊水染色体检查,新生儿检查结果对照。结果筛查2464例孕妇,高风险孕妇142例,阳性率为5.70%。其中唐氏高风险87例,18-三体高风险18例,神经管畸形高风险37例。高风险孕妇行羊水染色体检查60例,发现异常核型3例。结论孕妇中期产前筛查,结合产前诊断对预防染色体异常胎儿,防止先天缺陷具有重要作用。更多还原

【Abstract】 Objective To study the important role of prenatal screening and diagnosis for Down′s syndrome in second trimenster to interfere Fetal chromosomal abnormalities and neural tube defects.Methods The value of AFP andβ-HCG in the serum was detected in 2464pregnant women at about 15th~20th weeks gestation with Time-resolved fluorescence immunoassay and calculate their risk coefficient with professional software.Karyotype analysis for amniotic fluid and B-ultrasonography was offered to women at high risk,Neonatal screening results as a control.Results In 2464pregnant women,142cases(5.7%)were high risk.87cases were at high risk for Down′s syndrome.18cases were at high risk for Trisomy 18.37cases were at high risk for Neural tube defects.Karyotyping on cultured cells in amniotic fluid was carried out on 82pregnant women at high risk and 3cases of abnormal karyotype were diged out.Conclusion Prenatal screening and prenatal diagnosis play an important role in the prevention of Down′s syndrome and other congenital abnormality.更多还原