Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma

• Main Authors: Fiona M.F. Luna, Nancy B.Y. Tsui, K. C.Allen Chan, Tak Y. Leung, Tze K. Lau, Pimlak Charoenkwan, Katherine C.K. Chow, Wyatt Y.W. Lo, Chanane Wanapirak, Torpong Sanguansermsri, Charles R. Cantor, Rossa W.K. Chiu, Y. M.Dennis Lo
• 格式: 雜誌
• 出版: 2018
• 主題: Multidisciplinary
• 在線閱讀: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=58149401202&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/60754
• 機構: Chiang Mai University

Prenatal diagnosis of monogenic diseases, such as cystic fibrosis and β-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 discover...