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目的:研究运用母血清HCG、PAPP-A与超声颈项透明层厚度(NT)测量联合的一站式快速产前筛查体系(OSCAR)在海南地区染色体疾病及重度α地中海贫血(地贫)诊断中的应用价值。方法:对我院产前诊断中心的单胎妊娠病人进行11~13+6周OSCAR产前筛查,对于唐氏及胎儿α重度地贫高风险者进行产前诊断。分析OSCAR对胎儿染色体病及重度α地贫的检出率及β-HCG、PAPP-A和NT的变化规律。结果:OSCAR唐筛阳性率5.6%,检出率90%;OSCAR中NT增厚时染色体异常风险增加、β-HCG升高、重度α地贫检出率为20%。结论:OSCAR系统对于海南地区的染色体疾病筛查有良好的应用价值,对于重度α地贫的诊断有辅助价值。
Abstract：Objective:To study the value of combining serum HCG、PAPPA and ultrasound nuchal translucency thickness(NT)measurement at 11-14 weeks for(One-stop Clinic of Risk Assessment,OSCAR)in Hainan Province,for the prenatal screen of chromosomal disorders and severeα-thalassemia.Methods:The patients at 11-13+6 weeks in our hospital for prenatal examination were booked to make OSCAR prenatal screening,the patients at high risk of Down's and severe thalassemia received prenatal diagnosis for fetal karotype and thalassemia gene checking,pregnancy outcomes were followed-up.To analyze the detection rate of OSCAR in fetal chromosomal disease and its diagnostic value in fetal thalassemia.Results:1.The positive rate of OSCAR Down's screening was 5.6%,the detection rate was 90.0%.The incidence of chromosomal abnormalities and serumβ-HCG was increased when NT increased.The detection rate of severe alpha thalassemia with increasing NT was20%.Conclusion:1.OSCAR Down's screening system for early pregnancy has high detection rate,and is noninvasive,affordable and preferred prenatal screening method of Chromosome disease and it has partial value for severeα-thalassemia in Hainan province.
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基本信息:
DOI：10.13210/j.cnki.jhmu.20160620.009
中图分类号:R714.5
引用信息:
[1]凌奕,金松,胡春霞,等.OSCAR系统在染色体疾病及重度α地中海贫血产前筛查中的应用价值[J].海南医学院学报,2016,22(15):1691-1693+1697.DOI:10.13210/j.cnki.jhmu.20160620.009.
基金信息:
海南省重点科技计划项目(ZDXM20130063); 海南省科技计划项目(081006)~~
2016-06-20
2016-06-20
2016-06-20