Article
Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA.
Blood - 31 Mar 2011
Tsui Nancy B Y, Kadir Rezan A, Chan K C Allen, Chi Claudia, Mellars Gillian, Tuddenham Edward G, Leung Tak Y, Lau Tze K, Chiu Rossa W K, Lo Y M Dennis
Abstract excerpt
Hemophilia is a bleeding disorder with X-linked inheritance. Current prenatal diagnostic methods for hemophilia are invasive and pose a risk to the fetus. Cell-free fetal DNA analysis in maternal plasma provides a noninvasive mean of assessing fetal sex in such pregnancies. However, the disease status of male fetuses remains unknown if mutation-specific confirmatory analysis is not performed. Here we have...
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