Prenatal diagnosis of hemoglobin Bart's hydrops fetalis with gap-PCR system.

摘要

I read with interest the recent article by Karnpean et al. [1], which described a double-check PCR assay for accurate prenatal diagnosis of hemoglobin (Hb) Bart's hydrops fetalis. In their method, 2 specific fragments located 5' to the zeta2 gene (XbaI fragment) and the alpha2-globin gene (RsaI fragment) together with the gap-PCR fragment were multiply co-amplified to determine the presence or absence of normal and alpha~0-thalassemia alleles. Molecular diagnosis was possible for all 64 fetuses with the use of this multiplex PCR approach, and the authors concluded that it was simple, accurate and applicable in the prenatal diagnosis in a routine setting.