Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population

DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study

Glenn E. Palomaki, Edward M. Kloza, Geralyn Lambert‐Messerlian et al. · Genetics in Medicine · 2011 · 936 citations

Medicine, Genetics, Obstetrics +17

Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study

Rossa W. K. Chiu, Ranjit Akolekar, Yama W. L. Zheng et al. · BMJ · 2011 · 774 citations · Full text

Medicine, Genetics, Obstetrics +17

Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing

Diana W. Bianchi, Lawrence D. Platt, Alfred Abuhamad et al. · Obstetrics and Gynecology · 2012 · 645 citations

Life Sciences, Genetics, Molecular Genetics +13

Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18

Mary E. Norton, Herb Brar, Jonathan M. Weiss et al. · American Journal of Obstetrics and Gynecology · 2012 · 595 citations

Medicine, Genetics, Obstetrics +16

DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study

Glenn E. Palomaki, Cosmin Deciu, Edward M. Kloza et al. · Genetics in Medicine · 2012 · 520 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17