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

• Main Authors: Luna F.M.F., Tsui N.B.Y., Chan K.C.A., Leung T.Y., Lau T.K., Charoenkwan P., Chow K.C.K., Lo W.Y.W., Wanapirak C., Sanguansermsri T., Cantor C.R., Chiu R.W.K., Lo Y.M.D.
• Format: Article
• Language: English
• Published: 2014
• Online Access: http://www.scopus.com/inward/record.url?eid=2-s2.0-58149401202&partnerID=40&md5=554987d4ae9d665502d6781027005f96; http://cmuir.cmu.ac.th/handle/6653943832/2298
• Institution: 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...