【摘要】 目的:探讨双胎妊娠和三胎妊娠地中海贫血的产前基因诊断情况。方法:对27例双胎妊娠和三胎妊娠患者进行绒毛膜穿刺或羊膜囊穿刺胎儿取样,采取裂隙聚合酶链反应以及聚合酶链反应结合反向点杂交方法进行产前基因诊断。结果:在进行α地中海贫血产前基因诊断的20例双胎妊娠及1例三胎妊娠中,共对43个胎儿进行取材,共检测出6例Bart’s水肿胎,3例血红蛋白H病。在进行β地中海贫血产前基因诊断的6例双胎妊娠中,共对9个胎儿进行取材,共检测到3例中重型β地中海贫血。结论:地中海贫血的多胎妊娠孕妇产前基因诊断能较有效检出Bart’s水肿胎和中重型β地中海贫血患儿,可预防重型地中海贫血患儿的出生。更多还原

【Abstract】 Objective: To investigate the results of thalassemia prenatal diagnosis in twin pregnancies and triplet pregnancies. M ethods: 27 cases of twin pregnancies and triplet pregnancies were from Clinical Genetics Center and fetal samplings were collected by chorionic villus sampling in the first trimester,by amniocentesis in the second trimester or third trimester. Gap-polymerase chain reaction( Gap-PCR) and polymerase chain reaction-reverse dot-blot( PCR-RDB) method were used for prenatal genetic diagnosis. Results: Among the 20 cases of twin pregnancies and one case of triplet pregnancy,43 fetal samples were collected for α- thalassemia prenatal diagnosis,6 cases of Bart’s fetuses and 3 cases of Hb H were detected. Meanwhile,9 fetal samples were collected for β- thalassemia prenatal diagnosis,3 fetuses with β- thalassemia major were detected. Conclusions: Prenatal genetic diagnosis of thalassemia is highly effective in detecting the Bart’s fetuses and β- thalassemia fetus,so prenatal genetic diagnosis should be performed to prevent the birth of thalassemic offspring in couples at-risk.更多还原