摘要
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 pregnancy early, middle pregnancy complete sequential screening tbr Down＇s syndrome and Edwards syndrome. Methods ： Selected 8650 cases of pregnant women, pregnancy early detection PAPP - α, β-hCG, NT, middle pregnancy detecting AFP, 13 -hCG, combined with pregnant women baseline data, used Risks 2T risk software for risk analysis, chromosome karyotype analysis confirmed. Results： Pregnant early checked Down＇s syndrome high -risk 896 cases, Edwards syndrome high -risk 125 cases; Middle pregnancy checked down high -risk 950 cases, Edwards syndrome high -risk 108 cases; Complete sequential checked Down＇s syndrome high -risk 247 cases, Edwards syndrome high risk 47 cases; Diagnosed Down＇ s syndrome 10 cases, Edwards syndrome 2 cases ; Complete sequential solution detected abnormal detection rate was significantly higher at early and mid pregnancy. Conclusion： Complete sequential screening for Down＇s syndrome and Edwards syndrome can obviously improve the abnormal rate of children, reduce defects children with birth rate and improve population quality, have positive clinical significance.
出处
《中国优生与遗传杂志》
2013年第12期87-88,124,共3页
Chinese Journal of Birth Health & Heredity
关键词
唐氏综合征
18-三体综合征
孕早期
孕中期
完整序贯
Down＇s syndrome
Edwards syndrome
Early pregnancy
Middle pregnancy
Complete sequential
