Molecular prenatal diagnosis of thalassemia in Taiwan.
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.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Chern
S R
SR
Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.
Chen
C P
CP
D000649:Amniocentesis; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011296:Prenatal Diagnosis / Q000379:methods*; D012307:Risk Factors; D017422:Sequence Analysis, DNA / Q000379:methods; D013624:Taiwan; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000235:genetics; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics