Rapid Prenatal Gene Diagnosis of ?-Thalassemia with PCR-RDB Assay / 中华围产医学杂志

ABSTRACT

Objective To reduce the birthrate of ?-thalassemia major and improve the quality of population. Methods 527 pregnant women and their spouses were screened at 12~26 weeks of gestation with hematological data to find out carriers of ?-thalassemia. The blood samples of the couples who were both carriers were analyzed with PCR-RDB method for prenatal gene diagnosis. The umbilical blood samples were examined to prove the results. Results There were 28 cases of ?-thalassemia out of 1054 individuals, the positive rate was 2.66%; the ratio of male to female was 1/1.15. As the result of prenatal gene diagnosis, among four fetuses at risk, one was completely normal while three were with ?-thalassemia major(one homozygous and two compound heterozygous) who were aborted within 2 weeks after prenatal gene diagnosis. Conclusions It suggests that the PCR-RDB assay is effective in preventing the birth of ?-thalassemia major and has clinical significance in improving the population quality.