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目的探讨孕中期唐氏征筛查和产前诊断对减少出生缺陷,提高人口素质的临床价值。方法利用美国Perkin Elmer公司Auto DELFIA全自动时间分辨荧光免疫分析仪对20 232例孕中期单胎孕妇血清(孕周在15~20+6w)AFP、freeβ-h CG、u E3浓度进行检测分析,用Lifecycle3.2软件计算孕妇的唐氏综合征风险。对高风险孕妇在知情的情况下,自愿选择羊膜腔穿刺,进行胎儿染色体核型分析。结果 20 232例孕妇中筛查高风险1052例,筛查阳性率为5.2%(1052/20232)。112例神经管畸形高风险行影像学诊断,940例行胎儿染色体诊断中只有227例接受在本院羊水穿刺产前诊断,检测率占24.1%(227/940),发现胎儿染色体变异24例,变异检出率10.57%(24/227),其中3例唐氏综合征。结论孕中期产前筛查是预测异常胎儿和不良妊娠结局的有效指标。结合羊水培养等产前诊断技术和方法,对预防先天缺陷儿出生、提高人口素质有重要临床应用价值。
Objective To investigate the clinical value of Down’s syndrome screening and prenatal diagnosis during the second trimester to reduce birth defects and improve population quality. Methods The serum levels of AFP, free β-h CG and u E 3 in 20 232 pregnant women with singleton pregnancies at the gestational age of 15-20 + 6 weeks were detected by Auto DELFIA automatic time-resolved fluorescence immunoassay analyzer from Perkin Elmer, Use Lifecycle3.2 software to calculate the risk of Down’s syndrome in pregnant women. High-risk pregnant women in the informed circumstances, the voluntary choice of amniocentesis, fetal karyotype analysis. Results Among 20232 pregnant women, 1052 were screened for high risk, and the positive rate of screening was 5.2% (1052/20232). 112 cases of high risk of neural tube defects imaging diagnosis, 940 routine fetal chromosomal diagnosis of only 227 cases received amniocentesis in our hospital prenatal diagnosis, the detection rate was 24.1% (227/940) found 24 cases of fetal chromosomal aberrations, The detection rate of variation was 10.57% (24/227), of which 3 were Down Syndrome. Conclusion The second trimester prenatal screening is an effective measure to predict abnormal fetuses and adverse pregnancy outcomes. Combined with prenatal diagnosis of amniotic fluid and other techniques and methods to prevent birth defects birth, improve the quality of population has important clinical value.