Article
Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma.
Proceedings of the National Academy of Sciences of the United States of America - 16 Dec 2008
Lun Fiona M F, Tsui Nancy B Y, Chan K C Allen, Leung Tak Y, Lau Tze K, Charoenkwan Pimlak, Chow Katherine C K, Lo Wyatt Y W, Wanapirak Chanane, Sanguansermsri Torpong, Cantor Charles R, Chiu Rossa W K, Lo Y M Dennis
Abstract excerpt
Prenatal diagnosis of monogenic diseases, such as cystic fibrosis and beta-thalassemia, is currently offered as part of public health programs. However, current methods based on chorionic villus sampling and amniocentesis for obtaining fetal genetic material pose a risk to the fetus. Since the discovery of cell-free fetal DNA in maternal plasma, the noninvasive prenatal assessment of paternally inherited traits...
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