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

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...

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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 2008
Témata:
Biological Sciences
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2596743/
https://ncbi.nlm.nih.gov/pubmed/19060211
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0810373105
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