Molecular prenatal diagnosis of thalassemia in Taiwan

Objective: Thalassemia is a highly prevalent genetic disorder in Taiwan. Th e major goal of this study was to present a feasible protocol for the prena tal diagnosis of thalassemia. Method: Prenatal investigation of thalassemia was performed on 57 at-risk cases at the Mackay Memorial Hospital, Taipei, Taiwan. We developed a method using polymerase chain reaction (PCR) and hi gh-throughput DNA sequencing to detect mutations. All diagnoses were confir med after delivery. Result: Prenatal testing revealed 16 normal fetuses, 24 alpha-thal-1 carriers, eight Hb Bart's hydrops fetalis, seven beta-thalass emia minor, and two beta-thalassemia major fetuses. No false-positive or fa lse-negative cases were found during the postnatal follow-ups. Conclusion: The results of this study indicate that prenatal diagnosis of thalassemia s yndromes in Taiwan is successful with the use of a rapid and accurate molec ular method. (C) 2000 International Federation of Gynecology and Obstetrics .