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Molecular prenatal diagnosis of thalassemia in Taiwan
Author(s) -
Chern SchuRern,
Chen ChihPing
Publication year - 2000
Publication title -
international journal of gynecology and obstetrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.895
H-Index - 97
eISSN - 1879-3479
pISSN - 0020-7292
DOI - 10.1016/s0020-7292(99)00211-8
Subject(s) - prenatal diagnosis , medicine , hydrops fetalis , thalassemia , beta thalassemia , fetus , genetic disorder , obstetrics , genetic counseling , polymerase chain reaction , pediatrics , pregnancy , genetics , gene , disease , biology
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 α‐thal‐1 carriers, eight Hb Bart's hydrops fetalis, seven β‐thalassemia minor, and two β‐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.