孕早期绒毛产前诊断地中海贫血1072例分析

目的探讨地中海贫血高风险妊娠的产前诊断效果,为控制该类患儿的出生提供参考。方法孕10～15周孕妇1 072例,取绒毛样本进行α-和β-地中海贫血基因检测。结果在1 072例绒毛样本中,727例进行α-地贫基因分析,568例（78.13%）检出α-地贫;336例进行β-地贫基因分析,256例（76.19%）检出β-地贫;9例进行α-和β-地贫基因分析,均检出地贫基因。其中共检出Hb Bart＇s症142例和β-地贫纯合子或双重杂合子胎儿75例,均在产前诊断后1周内终止妊娠。结论采用绒毛进行地中海贫血产前诊断能有效地减少该类患儿的出生。

Analysis of Chorionic Villus Sampling Applied to Prenatal Diagnosis of 10 72 Cases of Thalassemia in First Trimester

Objective To control the birth of children with thalassemia by applying prenatal diagnosis to high risk pregnancy. Methods Chorionic villi samplings were performed in 1 072 pregnancies of gestational age of 10 to 15 weeks for the gene detection of α- or β-thalassemia. Results Out of 1 072 chorionic villi samples,727 were given gene analysis of α-thalassemia,568（ 78. 13%） were carriers with α-thalassemia; 336 were given gene analysis ofβ-thalassemia,256（ 76. 19%） were carriers with β-thalassemia; 9 were given gene analysis of α- and β-thalassemia,all of which were carriers with thalassemia. There were 142 cases of Hb Bart＇s disease and 75 cases of homozygous or double heterozygous β-thalassemia,they all received termination of pregnancy within one week after prenatal diagnosis.Conclusion Chorionic villi sampling is a feasible and effective technique for prenatal diagnosis of thalassemia,which might effectively control the birth of children with thalassemia.