Molecular prenatal diagnosis of thalassemia in Taiwan

Abstract

OBJECTIVE: Thalassemia is a highly prevalent genetic disorder in Taiwan. The major goal of this study was to present a feasible protocol for the prenatal 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 high-throughput DNA sequencing to detect mutations. All diagnoses were confirmed after delivery. RESULT: Prenatal testing revealed 16 normal fetuses, 24 alpha-thal-1 carriers, eight Hb Bart's hydrops fetalis, seven beta-thalassemia minor, and two beta-thalassemia major fetuses. No false-positive or false-negative cases were found during the postnatal follow-ups. CONCLUSION: The results of this study indicate that prenatal diagnosis of thalassemia syndromes in Taiwan is successful with the use of a rapid and accurate molecular method.