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目的探讨HbH病产前筛查和妊娠结局的影响因素。方法通过MCV、MCH、MCHC、Hb、家族史等指标收集2007年至2011年孕前或产前筛查为地中海贫血的高危女性,并通过地中海贫血基α因检测,确诊夫妻双方均为α-地中海贫血携带者的产前诊断病例,进行羊水α和β地中海贫血基因检测,或脐带血进行血常规、血红蛋白电泳、基因检测,同时在孕中期进行胎儿系统彩超及超声心动图检查,将正常胎儿和重症地中海贫血胎儿彩超检查结果比较,最终进行胎儿地中海贫血的产前诊断。结果通过上述指标筛查出HbH病高危孕妇病例35例,通过产前诊断确诊胎儿为重度地中海贫血病例11例,确诊为携带者病例13例,确诊为完全正常者病例11例,重度地中海贫血胎儿可出现心胸比例增大、胎盘厚度、腹水等溶血性贫血症状。对所有产前筛查孕妇病例进行随访,无漏诊病例。结论基因检测和B超协助筛查可尽可能的避免HbH病的漏诊,HbH病胎儿的妊娠结局与地中海贫血基因型、父母选择、胎次等因素有着密切关系。
Objective To investigate the influencing factors of prenatal screening and pregnancy outcome in HbH patients. Methods High-risk women screening for thalassemia before pregnancy or prenatal period from 2007 to 2011 were collected from MCV, MCH, MCHC, Hb, family history and other indicators and confirmed by α-thalassemia test that both husband and wife were α-Mediterranean Anemia carriers of prenatal diagnosis of cases of amniotic fluid α and β thalassemia gene testing, or umbilical cord blood, hemoglobin electrophoresis, genetic testing, while in the second trimester fetal system ultrasound and echocardiography, the normal fetus and Severe thalassemia fetal ultrasound test results compared to the final prenatal diagnosis of fetal thalassemia. Results 35 cases of HbH high-risk pregnant women were screened out by the above indexes, 11 cases of severe thalassemia were diagnosed by prenatal diagnosis, 13 cases were diagnosed as carriers, 11 cases were diagnosed as normal and 11 cases of severe thalassemia There may be an increase in the proportion of heart and chest, placental thickness, ascites and other symptoms of hemolytic anemia. All prenatal screening pregnant women were followed up, no missed cases. Conclusion Genetic testing and B-ultrasound screening can avoid the misdiagnosis of HbH disease as much as possible. The pregnancy outcome of HbH fetus is closely related to the genotype of thalassemia, parental selection and parity.