cfDNA screening and diagnosis of monogenic disorders - where are we heading?
Author:
Affiliation:
1. Department of Chemical Pathology; The Chinese University of Hong Kong, Prince of Wales Hospital; Shatin Hong Kong SAR
Funder
Hong Kong Research Grants Council of the Hong Kong SAR Government
Publisher
Wiley
Subject
Genetics(clinical),Obstetrics and Gynaecology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/pd.5207/fullpdf
Reference26 articles.
1. Presence of fetal DNA in maternal plasma and serum;Lo;Lancet,1997
2. Deiivering an accredited non-invasive prenatal diagnosis service for monogenic disorders: recommendations for best practice;Jenkins;Prenat Diagn,2018
3. Non-invasive prenatal diagnosis (NIPD) for single gene disorders: Cost analysis of NIPD and invasive testing pathways;Verhoef;Prenat Diagn,2016
4. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus;Lo;Sci Transl Med,2010
5. Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma;Lun;Proc Natl Acad Sci U S A,2008
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