Non-invasive prenatal diagnosis of beta-thalassemia by semiconductor sequencing: a feasibility study in the sardinian population
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg201726.pdf
Reference30 articles.
1. Lo YM, Corbetta N, Chamberlain PF et al: Presence of fetal DNA in maternal plasma and serum. Lancet 1997; 350: 485–487.
2. Lo YM, Chan KC, Sun H et al: Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci Transl Med 2010; 2: 61ra91.
3. Wang E, Batey A, Struble C, Musci T, Song K, Oliphant A : Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenat Diagn 2013; 33: 662–666.
4. Hahn S, Rusterholz C, Hösli I, Lapaire O : Cell-free nucleic acids as potential markers for preeclampsia. Placenta 2011; 32 (Suppl): S17–S20.
5. Canick JA, Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE : The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenat Diagn 2013; 33: 667–674.
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