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目的寻找适合推广的预防出生缺陷的干预模式和干预手段,了解汕头市金平区育龄人群地中海贫血基因携带率,预防地中海贫血患儿的出生,从而减少出生缺陷,提高人口质量。方法对金平区户籍已婚未育夫妇进行地中海贫血进行筛查,筛查阳性者再进一步进行基因诊断,并对高危人群给予优生指导和咨询。结果 4 006例受检者中筛查表型阳性226例(5.64%),其中α-地贫表型阳性者124例(3.10%),β-地贫表型阳性者102例(5.54%)。阳性者进一步进行基因诊断,检出α-地贫基因阳性37例(29.84%),β-地贫基因阳性48例(47.06%)。结论选择适合的检测方法为孕龄人群进行地贫筛查,积极进行产前基因诊断,对减少出生缺陷的优生优育政策有重要的作用。
OBJECTIVE: To find suitable intervention modes and interventions for prevention of birth defects and to understand the prevalence of thalassemia carriers in the fertile population in Jinping, Shantou, so as to prevent the birth of children with thalassemia so as to reduce birth defects and improve population quality. Methods Screening of thalassemia in married and non-married dwellers in Jinping District was conducted, and the positive ones were screened for further gene diagnosis. At the same time, eugenic guidance and counseling were given to the high-risk groups. Results A total of 226 screening cases (5.64%) were detected in 4 006 subjects, of which 124 (3.10%) were positive for α-thalassemia and 102 (5.54%) were positive for β-thalassemia. . Positive for further genetic diagnosis, detection of α-thalassemia gene positive in 37 cases (29.84%), β-thalassemia gene positive in 48 cases (47.06%). Conclusions Choosing suitable detection methods for thalassemia screening in pregnant population, and actively conducting prenatal genetic diagnosis, plays an important role in prenatal and postnatal care policies to reduce birth defects.