羊膜腔穿刺与经皮脐血取样在重型α-地中海贫血产前诊断的对比分析

目的:探讨羊膜腔穿刺与经皮脐血取样在重型α-地中海贫血产前诊断中的手术指征特点、检出情况、诊断所需时间以及妊娠结局等方面的差异,为早诊断及早干预提供客观依据。方法:以夫妇双方诊断为α-地贫1缺失突变和孕中晚期胎儿超声异常为指征,在超声引导下行羊膜腔穿刺(72例次)或经皮脐血取样(14例次)进行α-地贫基因检测,主要检测东南亚缺失--SEA和罕见的泰国型缺失--THAI,脐血还送血红蛋白电泳检测。结果:羊水组穿刺平均孕周早于脐血组,差异有统计学意义(P<0.01);重型α-地贫羊水组17例,检出率23.61%,脐血组7例,检出率50.00%,两组差异有统计学意义(P<0.05),其中脐血组有1例为罕见的泰国缺失与东南亚缺失双重杂合子(--THAI/--SEA);母体合并症并发症发生率羊水组17.65%,脐血组为86.17%,两组差异有统计学意义(P<0.01)。两组检出的重型α-地贫胎儿均给予终止妊娠引产。结论:羊水组穿刺孕周及终止妊娠孕周明显早于脐血组,相对诊断时间早,母体发生合并症并发症少;而脐血组对重型α-地贫胎儿检出率明显高于羊水组,且脐血血红蛋白电泳可快速诊断重型α-地贫胎儿,是一个补救的措施。

The contrastive analysis between amniocentesis and percutaneous umbilical cord blood sampling in the prenatal diagnosis of gravis type α-thalassemia

Objective:To investigate the difference between amniocentesis and PUBS include the indication of invasive operation,the detection of gravis type α-thalassemia,the time we need and the pregnancy outcomes in the prenatal diagnosis,in order to offer the objective evidence for early diagnoses and intervention. Methods:The indication of operation was the α-thalassemia 1 deletions had been both detected in the couples and some of their fetal ultrasound was anomalism.There were 72 cases in the amniocentesis group and 14 cases in PUBS group,the samples been taken to α-thalassemia gene test,the common α-thalassemia 1 deletions are the Southeast Asian(——SEA)and infrequent was the THAI deletion(——THAI),the samples of umbilical cord blood also was sent to the hemoglobin electrophoresis test. Results:The average gestational weeks of amniocentesis was earlier than the PUBS(21.16±2.09vs28.27±3.95),the difference was significance(t'=14.558,P=0.000).The detection of gravis type α-thalassemia: 17 cases in amniocentesis group(23.61%),7 cases in PUBS group(50.00%),the detection rate of PUBS group was higher than amniocentesis group,and the difference was significance(χ2=4.057,P=0.044),one of them was the scarce double heterozygote(——THAI/——SEA).The incidence rate of complication in mother: 17.65% in amniocentesis,and 86.17% in PUBS,the incidence rate of PUBS group was obviously higher than amniocentesis group(Z=-2.893,P=0.004).All gravis type α-thalassemia fetus were terminated pregnancy. Conclusion:The time of diagnoses and intervention in the amniocentesis group is obviously earlier than the PUBS group,and the complication incidence rate of mother is apparently lower,but the detection rate is higher in the PUBS group,and the hemoglobin electrophoresis test can detect the gravis type α-thalassemia quickly,so it is a remedial method in prenatal diagnosis.