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目的检测妊娠中期孕妇血清甲胎蛋白(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征的无创性筛查。方法对11400名15～20周孕妇采用时间分辨免疫荧光分析法检测孕妇血中AFP和β-HCG浓度,结合孕妇年龄、体重、孕周等因素计算风险率。对唐氏综合征高危的孕妇进行羊水细胞染色体分析,神经管缺损(NTD)高危者行超声波检查。结果在11400名孕妇中21-三体高危791例,占筛查总数的6.94%;18-三体高危315例,占筛查总数的2.76%;神经管缺损高危54例,占筛查总数的0.47%;在769例羊水细胞染色体检查中,共检测出异常核型23例。结论产前筛查、产前诊断对减少出生缺陷的发生,具有重要意义。
Objective To detect serum alpha-fetoprotein (AFP) and free-beta-chorionic gonadotropin (G-CSF) in the second trimester of pregnancy and to screen non-invasive fetal Down’s syndrome in the second trimester of pregnancy. Methods The blood levels of AFP and β-HCG in 11400 pregnant women aged 15 to 20 weeks were determined by time-resolved immunofluorescence assay. The risk factors were calculated according to the age, weight and gestational age of pregnant women. Chromosome analysis of amniotic fluid cells in pregnant women with high risk of Down Syndrome, ultrasound examination of high risk of neural tube defects (NTD). Results Among 11400 pregnant women, 791 cases were high risk of trisomy 21, accounting for 6.94% of the total number of screening; 315 cases of high risk of trisomy 18, accounting for 2.76% of the total number of screening; 54 cases of high risk of neural tube defects, accounting for the total number of screening 0.47%; in 769 cases of amniotic fluid cell chromosome examination, a total of 23 cases were detected abnormal karyotype. Conclusions Prenatal screening and prenatal diagnosis are of great importance in reducing the incidence of birth defects.