【摘要】 目的回顾分析1994～2003年来我院行产前检查夫妇共88739人的地中海贫血筛查及产前诊断结果,探讨开展地中海贫血产前筛查及产前诊断意义。方法1994～2003年12月来我院行产前检查夫妇共88739人,常规进行地中海贫血筛查,夫妇同为琢-地贫或茁-地贫携带者建议其做相应的产前诊断。地贫筛查指标为血红蛋白定性、定量分析,结合Henzi小体检查及红细胞形态检查,产前诊断孕早期可取绒毛或羊水进行基因诊断,孕中期或晚期可通过B超下穿刺抽脐静脉血进行诊断。结果筛检出轻型琢-地贫携带者5026人,检出率5.7%;轻型茁-地贫携带者3157人,检出率3.5%。夫妇同为琢-地贫携带者185对,同为轻型茁-地贫携带者75对。接受地贫产前诊断共250对,检出中、重型地贫胎儿73例。结论本地区是地贫高发区,通过开展地贫的产前筛查及产前诊断,对重型地贫胎儿早发现早引产,对优生优育,提高围产期质量及提高人口素质起到了很大作用。更多还原

【Abstract】 Objective To investigate the application values of prenatal screening and diagnosis of thalassemia by retrospective study of the result of prenatal screening and diagnosis of thalassemia(88 739 people) in Guangzhou maternal and neonatal hospital during 1994～2003. Methods Regular screening for α- or β-thalassemia were carried out in couples performing prenatal check up, including quantification analysis of hemoglobin(HB), microscopic inspection of small Henzi bodies and red blood cells (RBC). For both of the couples were thalassemia carries prenatal diagnosis were performed including genotype detecting by extracting villus or amniotic fluid in first trimester pregnancy, or by extracting umbilical cord blood in second or third trimester pregnancy. Results 5026 people were α-thalassemia carriers (5.7%) and 3157 were β-thalassemia carriers (3.5%). 185 couples were α-thalassemia carriers and 75 couples were b β-thalassemia carriers. Among 250 couples received prenatal diagnosis, 73 fetuses were found as thalassemia traits or severe thalassemia. Conclusions With prenatal screening and diagnosis in thalassemia, severe thalassemia fetuses could be found early and terminate the pregnancy instantly. This extensive retrospective study suggested the strategy of prenatal screening and diagnosis should be an effective way in the control of severe thalassemia, thus would help improve the quality of birth and advance the diathesis of the population, especially in high prevalence areas such as Guangdong province.更多还原