Article
Accurate prenatal diagnosis of Hb Bart's hydrops fetalis in daily practice with a double-check PCR system.
Acta haematologica - 1 Jan 2009
Karnpean Rossarin, Fucharoen Goonnapa, Fucharoen Supan, Sae-ung Nattaya, Sanchaisuriya Kanokwan, Ratanasiri Thawalwong
Abstract excerpt
Hemoglobin (Hb) Bart's hydrops fetalis is a fatal condition associated with homozygous alpha(0)-thalassemia. Prenatal diagnosis of the disease is usually done by gap-PCR; however, misdiagnosis can occur with allelic dropout. Diagnosis using more than one method is preferred. We describe a double-check PCR assay for accurate prenatal diagnosis. The study was conducted on 64 fetuses at risk of homozygous...
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