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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 被引量:6

Application of OSCAR for prenatal screening of chromosomal disorders and severeαThalassemia
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摘要 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。 Objective:To study the value of combining serum HCG、PAPPA and ultrasound nuchal translucency thick-ness (NT)measurement at 1 1-14 weeks for (One-stop Clinic of Risk Assessment,OSCAR)in Hainan Province,for the pre-natal screen of chromosomal disorders and severe α-thalassemia.Methods:The patients at 1 1-13 + 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 thalasse-mia received prenatal diagnosis for fetal karotype and thalassemia gene checking,pregnancy outcomes were followed-up.To an-alyze 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 abnormali-ties and serumβ-HCG was increased when NT increased.The detection rate of severe alpha thalassemia with increasing NT was 20%.Conclusion:1.OSCAR Down's screening system for early pregnancy has high detection rate,and is noninvasive,afford-able and preferred prenatal screening method of Chromosome disease and it has partial value for severeα-thalassemia in Hainan province.
出处 《海南医学院学报》 CAS 2016年第15期1691-1693,1697,共4页 Journal of Hainan Medical University
基金 海南省重点科技计划项目(ZDXM20130063) 海南省科技计划项目(081006)~~
关键词 OSCAR 早产前筛查 染色体 地中海贫血 OSCAR OSCAR Prenatal screening Chromosome Thalassemia
作者简介 凌奕(1968-),女,硕士,主任医师,电话:089866763236、13518883582,Email:dianalingyi@163.com。 [通讯作者]金松(1964-),男,主任医师,电话:089866763236、13322052966。
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