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目的探讨孕中期唐氏筛查对检出胎儿染色体异常及减少出生缺陷的实际意义。方法对扬州市9 191例孕15~20+6周的孕妇用化学发光法对血清标志物甲胎蛋白(AFP)、人绒毛膜促性腺激素(β-HCG)和游离雌三醇(μE3)进行检测,结合孕妇年龄、体重、孕周等因素利用唐氏筛查风险评估软件计算胎儿患有21三体综合征、18三体综合征和神经管缺陷(NTD)的风险率,并对高风险孕妇进行羊水细胞染色体核型分析或B超进一步确诊。结果 9191例孕妇共筛查出611例高风险孕妇,阳性率为6.66%。347例高风险孕妇进行了羊膜腔穿刺术,经染色体核型分析共确诊10例染色体异常,其中21三体7例,18三体1例,其他染色体异常2例;143例NTD高风险孕妇经四维B超检查,最终确诊2例(脊柱裂1例、无脑儿1例)。结论中孕期唐氏筛查结合B超和羊水细胞染色体核型分析,可以有效降低出生缺陷患儿的出生率。
Objective To investigate the effect of Down’s screening in the second trimester on the detection of fetal chromosomal abnormalities and the reduction of birth defects. Methods The serum levels of AFP, β-HCG and μE3 were measured by chemiluminescence method in 9 191 pregnancies from 15 to 20 + 6 weeks in Yangzhou city. The risk of fetal trisomy 21, trisomy 18 and neural tube defects (NTD) was calculated using Down’s screening risk assessment software in combination with maternal age, weight, gestational age and other factors. Pregnant women at risk for amniotic fluid cell karyotype analysis or B ultrasound further diagnosis. Results 9191 pregnant women screened a total of 611 high-risk pregnant women, the positive rate was 6.66%. A total of 347 high risk pregnant women underwent amniocentesis. Chromosome karyotype analysis identified 10 cases of chromosomal abnormalities, of which 21 were trisomy 21, 1 trisomy 18 and 2 were other chromosomal abnormalities. 143 high risk pregnant women with NTD Four-dimensional B-ultrasound, the final diagnosis of 2 cases (1 case of spina bifida, anencephaly in 1 case). Conclusion Down’s screening in the second trimester combined with B cells and amniotic fluid cell chromosome karyotype analysis, can effectively reduce the birth defects in children with birth defects.