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目的探讨孕早期、中期完整序贯检测方案在筛查唐氏综合征与18-三体综合征的应用价值。方法选择8650例产前筛查孕妇,分别进行孕早期PAPP-A、β-hCG、NT3项检测、孕中期AFP、β-hCG检测,结合孕妇基线资料,采用Risks2T风险软件进行高危风险分析,在征得同意后,进行羊膜穿刺,应用染色体核型分析确诊。结果 8650例孕妇中,孕早期检出唐氏高危896例,18-三体高危125例;孕中期检出唐氏高危950例,18-三体高危108例;完整序贯方案检出唐氏高危247例,18-三体高危47例;确诊唐氏综合10例,18-三体综合征2例;完整序贯方案检出异常检出率明显高于孕早期、孕中期。结论完整序贯筛查唐氏综合征与18-三体综合征可以明显提高异常患儿的检出率,对于降低缺陷患儿的出生率、提高人口素质,具有积极的临床意义。
Objective To explore the application value of the complete and sequential detection of pregnancy in early pregnancy and mid-term in the screening of Down’s syndrome and 18-trisomy syndrome. Methods 8650 prenatal screening pregnant women were selected to carry out the detection of PAPP-A, β-hCG and NT3 in the first trimester of pregnancy and the detection of AFP and β-hCG in the second trimester. Combined with the baseline data of pregnant women, Risks2T risk software was used to carry out high- After consent, amniocentesis, diagnosis of karyotype analysis. Results In 8650 pregnant women, 896 high-risk Down’s were detected in early pregnancy, 125 high-risk patients with 18-trisomy were detected in the first trimester. 950 high-risk Down’s was detected in the second trimester and 108 high-risk patients with 18-trisomy in the second trimester. 247 cases were at high risk and 47 cases were at high risk of 18-trisomy. There were 10 confirmed Down’s syndrome and 2 cases of 18-trisomy syndrome. The detection rate of abnormal sequence was significantly higher than that of early pregnancy and middle pregnancy. Conclusion The complete sequential screening of Down’s syndrome and 18-trisomy syndrome can significantly improve the detection rate of children with abnormalities, which has a positive clinical significance for reducing the birth rate and improving population quality in children with defects.