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目的探讨孕中期孕妇血清标志物甲胎蛋白(AFP)和游离人绒毛促性腺激素β亚单位(Free-βhCG)检测及超声在产前筛查中的作用。方法应用时间分辨荧光免疫分析系统对妊娠15~20周的10242例孕妇进行血清AFP和Free-βhCG的检测及分析,风险率≥1∶270为唐氏综合征,神经管畸形(NTD)筛查高风险;风险率≥1∶350为18三体综合征筛查高风险,经产前诊断及超声、新生儿检查得以确认。结果10242例筛查孕妇中,唐氏综合征筛查高风险296例,检出4例21三体,2例染色体多态;18三体高风险65例,检出1例18三体;神经管畸形(NTD)高风险62例,检出NTD10例。高风险者中染色体异常和各脏器畸形儿检出19例,检出率4.49%。在唐氏综合征筛查低风险孕妇9163例中发现11例胎儿畸形(阳性发现率1.20‰),漏诊1例21三体。结论孕中期孕妇血清生化筛查和超声筛查胎儿唐氏综合征有效的产前筛查方法,高风险孕妇中阳性诊断率要高出低风险孕妇阳性检出率37.4倍,可见联合产前筛查明显提高染色体异常和畸形儿阳性检出率。
Objective To investigate the detection of serum alpha-fetoprotein (AFP) and free-β hCG in pregnant women of second trimester and the role of ultrasound in prenatal screening. Methods The serum AFP and Free-βhCG levels in 10242 pregnant women who were pregnant between 15 and 20 weeks were detected and analyzed by time-resolved fluorescence immunoassay. The risk factors ≥1: 270 were screening for Down Syndrome and NTD High risk; risk rate ≥ 1: 350 for the trisomy 18 screening for high risk, prenatal diagnosis and ultrasound, neonatal check to be confirmed. Results Of the 10242 pregnant women who were screened, 296 were high risk of Down’s syndrome screening, 4 cases of trisomy 21 and 2 cases of chromosome polymorphism were detected, 65 cases of trisomy 18 were high risk and 18 cases of trisomy 18 were detected. 62 patients with high risk of deformity (NTD) and 10 patients with NTD were detected. Chromosomal abnormalities in high-risk persons and malformations of various organs were detected in 19 cases, the detection rate was 4.49%. Eleven cases of fetal malformations (positive rate 1.20%) were found in 9,163 pregnant women with low risk of Down’s syndrome screening, and one case of trisomy 21 was missed. Conclusion Serum biochemical screening of pregnant women in the second trimester and effective prenatal screening screening method for fetal Down’s syndrome by ultrasound screening have a positive diagnosis rate of 37.4 times higher than that of low-risk pregnant women, showing that the joint prenatal screening Check significantly increased chromosomal abnormalities and abnormal positive detection rate of children.