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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(β-HCG)水平,进行孕中期胎儿唐氏综合征的无创性筛查。方法:采用化学发光法对孕中期(16～21周)妇女进行AFP、游离β-HCG检测,结合孕妇年龄、孕周、体重等因素,经专用软件进行分析验正,计算风险率。高危风险孕妇自愿选择羊膜腔穿刺,进行羊水细胞染色体核型分析。结果:接受筛查的2756例孕妇中筛查出唐氏综合征高风险41例,占筛查总数的1.49%;18-三体综合征高风险16例,占筛查总数的0.58%。35例高风险孕妇接受了羊水细胞染色体检查,占高危孕妇总数的85.37%;检出染色体异常核型5例,占高危孕妇接受羊水细胞染色体检查的14.29%。结论:利用检测孕妇血清AFP、游离β-HCG水平进行孕中期胎儿无创性产前筛查,结合产前诊断,对减少出生缺陷儿的出生有重要意义。
Objective: To detect serum alpha-fetoprotein (AFP) and free beta-HCG levels in pregnant women for non-invasive screening of Down’s syndrome in the second trimester of pregnancy. Methods: AFP and free β-HCG were detected by chemiluminescence method in the second trimester of pregnancy. The risk factors were calculated and analyzed by special software according to the age, gestational age and body weight of pregnant women. High risk pregnant women voluntarily choose amniocentesis for chromosome analysis of amniotic fluid cells. Results: Among 2756 pregnant women who were screened, 41 cases of Down’s syndrome were screened out, accounting for 1.49% of the total number of screening; 16 cases of 18-trisomy syndrome were high-risk, accounting for 0.58% of the total. 35 high-risk pregnant women received amniotic fluid cytological examination, accounting for 85.37% of the total number of high-risk pregnant women; 5 cases of chromosomal abnormalities were detected, accounting for 14.29% of the high-risk pregnant women receiving amniotic fluid chromosome examination. CONCLUSION: Noninvasive prenatal screening of fetuses in the second trimester with the detection of serum AFP and free β-HCG levels in pregnant women, combined with prenatal diagnosis, is of great importance in reducing the birth of infants with birth defects.