Journal of International Obstetrics and Gynecology ›› 2012, Vol. 39 ›› Issue (2): 208-210.

• 论著 • Previous Articles     Next Articles

Prenatal Diagnosis of Thalassemia in 2 171 Cases

DU Li,YIN Ai-hua,ZHANG Yan,LIANG Ju-qing,ZHOU Wei-ning,WANG An-shi,LAN Fei-fei,LI Hai-xia   

  1. The Prenatal Diagnosis Center,Women and Children Hospital of Guangdong Province,Guangzhou 510010,China
  • Received:1900-01-01 Revised:1900-01-01 Published:2012-04-15 Online:2012-04-15
  • Contact: YIN Ai-hua

Abstract: Objective:To make a retrospective analysis about 1 506 prenatal diagnosis cases of α-thalassemia and 665 cases of β-thalassemia in the prenatal diagnosis center of women and children hospital of Guangdong Province. Methods:Gap-PCR and polymerase chain reaction-reverse dot blot(PCR-RDB)assay. DNA sequencing was used in the case when unusual mutation was identified in at least one parent. Results:262 cases of Bart′s fetuses and 72 cases of Hb H were detected in 1 506 cases of α-thalassemia prenatal diagnosis. Meanwhile,174 fetuses with complex mutation were final diagnosed from 665 cases of β-thalassemia prenatal diagnosis. Conclusions:Prenatal diagnosis of thalassemia can effectively reduce the birth of Bart′s fetuses and seriously β-thalassemia,and it has the vital significance for eugenic birth and decrease of the perinatal complication.

Key words: Alpha-thalassemia, Beta-thalassemia, Prenatal diagnosis, Genes, DNA mutational analysis, Hydrops fetalis