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目的:预防和控制地中海贫血(简称地贫)重症患儿的出生,减少出生缺陷。方法:对16 443例育龄人群采用地中海贫血定量筛查法进行地贫筛查,筛查异常者运用单管多重PCR(mPCR)及DNA芯片反向点杂交(ASO/RBD/PCR)检测技术,分别进行α、β地中海贫血基因检测,夫妇均患α或β地贫者行产前诊断,及部分未行地贫筛查由其他原因行产前诊断时,愿意接受同时进行地贫产前诊断者。结果:16 443例受检者中筛查阳性6 393例,其中2 279例接受基因诊断,807例查出为地贫患者,235对夫妇接受地贫产前诊断,检出中、重型地贫胎儿16例(已全部终止妊娠)。结论:对孕期夫妇进行地贫筛查,积极开展产前诊断,对优生优育、干预地贫儿出生有着重要作用。
Objective: To prevent and control the birth of children with severe thalassemia (thalassemia) and to reduce birth defects. Methods: Thalassemia screening was performed using quantitative screening of thalassemia in 16 443 reproductive-age population. Single-tube multiplex PCR (mPCR) and reverse dot blot hybridization (ASO / RBD / PCR) Prenatal diagnosis of thalassemia, prenatal diagnosis of thalassemia, and prenatal diagnosis of thalassemia with partial or no thalassemia screening, respectively By. Results: Among 6 443 subjects, 6 393 were positive, of whom 2 279 were diagnosed as genetic disease, 807 were diagnosed as thalassemia, 235 were diagnosed as thalassemia by prenatal diagnosis, and medium and heavy thalassemia were detected Fetal 16 cases (all the termination of pregnancy). Conclusion: The screening for thalassemia couples during pregnancy and actively carry out prenatal diagnosis of prenatal and postnatal care, imprisonment of impoverished children play an important role.