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

• المؤلفون الرئيسيون: 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
• التنسيق: دورية
• منشور في: 2018
• الموضوعات: Multidisciplinary
• الوصول للمادة أونلاين: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=58149401202&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/60754

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...