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目的:探讨妊娠中期血清标记物甲胎蛋白(AFP)和人绒毛膜促性腺激素游离β亚基(Free-β-HCG)在妊娠中期唐氏综合征产前筛查中的应用价值。方法:应用时间分辨免疫荧光法对天津市2009年1月～2010年1月75 876例孕15～20+6周妇女进行血清AFP和Free-β-HCG含量检测,结合年龄、孕周、单双胎、体质量、既往异常妊娠史、有无糖尿病、吸烟史等因素,通过Life Cycle 3.0版软件进行风险率评估,对高风险妊娠妇女进行遗传咨询,在知情同意的情况下进行羊膜腔穿刺及B超检查以确诊。结果:75 876例妊娠妇女中,筛出染色体异常高风险妊娠妇女4 241例,其中1 036例接受羊膜腔穿刺产前诊断,发现唐氏综合征(DS)16例、18-三体综合征2例、其他胎儿染色体异常9例;27例中有18例<35岁;建立了该地区妊娠中期两项筛查指标的中位数值。DS胎儿母亲血中AFP水平较正常孕妇女降低,Free-β-HCG水平增加;18-三体胎儿的母亲血中AFP和Free-β-HCG水平均降低。结论:不能以年龄作为筛查DS的唯一指标,孕中期母体血清AFP、Free-β-HCG联合检测可能是预测胎儿染色体畸形的有效指标,经产前诊断及时采取措施,能降低出生缺陷,对优生工作具有重要意义。
Objective: To investigate the value of mid-pregnancy serum marker alpha fetoprotein (AFP) and human chorionic gonadotropin free beta subunit (Free-beta-HCG) in prenatal screening of Down’s syndrome in the second trimester of pregnancy. Methods: The serum levels of AFP and Free-β-HCG in 75 876 pregnant women with 15-20 + 6 weeks in Tianjin from January 2009 to January 2010 were detected by time-resolved immunofluorescence. Combined with age, gestational age, single Twins, body weight, previous history of abnormal pregnancy, diabetes mellitus, smoking history and other factors, risk assessment by Life Cycle version 3.0 software, genetic counseling for high-risk pregnant women, amniocentesis with informed consent And B-ultrasound to confirm the diagnosis. RESULTS: Of 75 876 pregnant women, 4 241 pregnant women with high-risk chromosomal abnormalities were screened, of whom 1036 received prenatal diagnosis of amniocentesis and found 16 Down’s syndrome (DS), 18 trisomy syndrome 2 cases, other fetal chromosomal abnormalities in 9 cases; 27 cases, 18 cases <35 years old; established in the mid-gestation of the two screening index median. The blood levels of AFP in DS fetus mothers were lower than those in normal pregnant women, and the level of Free-β-HCG was increased. The levels of AFP and Free-β-HCG in mothers’ blood of 18-trisomy decreased. Conclusion: Age can not be the only index for screening DS. Combined detection of maternal serum AFP and Free-β-HCG in the second trimester may be an effective index for predicting fetal chromosomal abnormalities. Prenatal diagnosis can reduce birth defects by prenatal diagnosis. Eucalyptus work is of great significance.