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目的探讨孕中期孕妇检测AFP、β-hCG和μE3对筛查出生缺陷的诊断价值。方法采用Roche cobas e601电化学发光免疫分析仪检测2011年1月-2012年12月唐山市妇幼保健院产前门诊孕中期(15~20周)孕妇血清甲胎蛋白(AFP)、β绒毛膜促性腺激素(β-hCG)和游离雌三醇(μE3)浓度,利用配套的产前筛查软件综合评估计算孕妇胎儿21-三体综合征、18-三体综合征和神经管缺陷的风险度,对筛查出的高危孕妇进行产前诊断。结果筛查21 481例孕妇中,高风险孕妇1 073例。其中21-三体综合征高风险孕妇923例,筛查阳性率4.30%,18-三体综合征高危孕妇59例,筛查阳性率0.27%,神经管缺陷91例,筛查阳性率0.42%。经羊水细胞染色体核型分析和出生缺陷监测,共诊断21-三体综合征4例,未见18-三体综合征,其他染色体异常3例。经B超检查,检出神经管缺陷3例。结论孕中期血清三联产前筛查法是可靠的无创性产前筛查方法,可降低出生缺陷的发生,结合羊水染色体核型分析和B超检查,对预防出生缺陷有重要临床应用价值。
Objective To investigate the diagnostic value of detecting AFP, β-hCG and μE3 in the second trimester of pregnant women for the screening of birth defects. Methods Roche cobas e601 electrochemiluminescence immunoassay was used to detect serum alpha-fetoprotein (AFP) and beta-chorionic villus in pregnant women in prenatal outpatients from January 2011 to December 2012 in the second trimester of pregnancy (15-20 weeks) Gonadotropin (β-hCG) and free estriol (μE3) concentrations were calculated and the risk of fetal trisomy 21, trisomy 18 and neural tube defects was calculated using a comprehensive prenatal screening software , Screening of high-risk pregnant women for prenatal diagnosis. Results A total of 1 073 pregnant women at high risk were screened from 21 481 pregnant women. Among them, 923 high risk pregnant women with 21-trisomy syndrome had positive screening rate of 4.30%, 59 high risk pregnant women with 18-trisomy syndrome, the positive rate of screening was 0.27%, 91 cases of neural tube defects and the positive rate of screening was 0.42% . Amniotic fluid chromosome karyotype analysis and birth defects monitoring, a total of 4 cases of 21-trisomy syndrome diagnosis, no trisomy 18, and other chromosomal abnormalities in 3 cases. B ultrasound examination, detection of neural tube defects in 3 cases. Conclusion The trimester screening method is a reliable noninvasive prenatal screening method to reduce the incidence of birth defects. Combined with karyotype analysis of amniotic fluid and B-ultrasound, it has important clinical value in preventing birth defects.