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

摘要

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.%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.