Application of hematology analysis combined with genetic diagnosis in prenatal diagnosis of thalassemia / 国际检验医学杂志

ABSTRACT

Objective To evaluate the application value of the hematology analysis combined with genetic diagnosis in the prena-tal diagnosis of thalassemia.Methods 2 368 parturients were performed the prenatal diagnosis of thalassemia in the prenatal diag-nosis center of our hospital from July 2010 to April 2013,and those with positive hematological screening detection were performed the genetic diagnosis.Results The hematology analysis results showed 124 parturients of abnormal HbA2.The hematology analy-sis results in the abnormal parturients had the statistical difference compared with those in the rest healthy parturients (P <0.01). Among 124 pregnant women of hematological positive phenotype,there were 16 couples with the same genotype,in these 16 preg-nant women,15 cases were performed the prenatal diagnosis of thalassemia,there were 7 cases of αthalassemia gene,2 cases of βgenotype,6 cases of normal genotype,3 cases of severe fetal thalassemia,including 2 cases of α-thalassemia(genotype--SEA/--SEA ),1 case ofβ-thalassemia(genotype 41-42/IVS-Ⅱ-654).All pregnant women terminated pregnancy after informing the patients.Conclu-sion The hematology analysis combined with genetic diagnosis plays an important role in the construction of perfect thalassemia prenatal detection and diagnosis intervention mode,and is worthy of popularization and application.