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目的检测孕妇血清甲胎蛋白(AFP),游离-β-绒毛膜促性腺激素(Free-β-HCG),进行孕中期胎儿唐氏综合症的无创伤性筛查。方法应用时间分辨免疫荧光分析法(DELFIA),对孕14～20w孕妇血清AFP、Free-β-HCG、的浓度进行检测,结合母龄、孕周、体重等因素计算风险率,对高风险孕妇在知情的情况下,自愿选择进行父母做染色体检查及胎儿羊膜腔穿刺,羊水细胞染色体核型分析。结果接受筛查的780名孕妇中,唐氏综合征高风险孕妇为49例,筛查阳性率为6.28%,其中29例接受羊水细胞培养染色体检查,占高危孕妇的59.18%,检出染色体异常核型8例,占高危孕妇接受羊水细胞培养染色体检查的27.58%。结论利用孕妇血清AFP、Free-β-HCG进行孕中期胎儿无创伤性产前筛查,结合产前诊断,及时终止妊娠,预防和减少缺陷儿的出生,提高人口素质具有一定的意义。
Objective To detect serum AFP and Free-β-HCG in pregnant women for noninvasive screening of Fetal Down’s syndrome in the second trimester. Methods Using time-resolved immunofluorescence assay (DELFIA), the serum levels of AFP and Free-β-HCG in pregnant women from 14 to 20 weeks pregnant were measured. The risk factors were calculated according to the factors of age, gestational age and body weight. In informed circumstances, voluntarily choose to do their parents do chromosomal examination and fetal amniocentesis, amniotic fluid chromosome karyotype analysis. Results Of the 780 pregnant women who underwent screening, 49 were high-risk pregnant women with Down’s syndrome and the positive rate of screening was 6.28%. Chromosome examination of amniotic fluid cell culture was performed in 29 of them, accounting for 59.18% of high-risk pregnant women. Chromosome abnormalities Karyotype in 8 cases, accounting for high-risk pregnant women received amniotic fluid cell culture chromosome examination of 27.58%. Conclusion Prenatal screening of prenatal fetal non-invasive prenatal screening with pregnant women serum AFP and Free-β-HCG combined with prenatal diagnosis, timely termination of pregnancy, prevention and reduction of defective children’s birth and improvement of population quality are of some significance.