Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

By R. Chiu, K. C. Chan, Yuan Gao, V. M. Lau, Wenli Zheng, T. Leung, C. Foo, Bin Xie, N. B. Tsui, Fiona M. F. Lun and 4 more. Proceedings of the National Academy of Sciences of the United States of America, 2008

921 citations recorded by the source corpus.

Subfields: Genetics, Pediatrics, Perinatology and Child Health

View Paper: https://www.semanticscholar.org/paper/26839c43bb5d41b75b5a2f36a3d078f349e25fe3

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In Genetics

Citations in the corpus

Next-generation sequencing: from basic research to diagnostics. (2009, neutral): “Lo and Stephen Quake have applied NGS to the detection of fetal chromosomal aneuploidy ( 87 , 88).”
Exome sequencing as a tool for Mendelian disease gene discovery (2011, positive): “…based on next-generation sequencing have proved to be capable of detecting fetal aneuploidies using free fetal DNA isolated from maternal plasma 55,56 and have proved to be useful for carrier screening of several hundred genes that are known to cause rare recessive Mendelian disorders 57 .”
Plasma DNA tissue mapping by genome-wide methylation sequencing for noninvasive prenatal, cancer, and transplantation assessments (2015, background): “43. Wang K, et al. (2009) Circulating microRNAs, potential biomarkers for drug-induced”
Detection of Chromosomal Alterations in the Circulation of Cancer Patients with Whole-Genome Sequencing (2012, methodology): “This single chromosome arm sensitivity is in accord with the results of previously described approaches for the detection of fetal trisomy 21 in maternal DNA (8, 9) (Fig.”
Detection and quantification of rare mutations with massively parallel sequencing (2011, background): “Detection of donor DNA in the blood of organ transplant patients is an important indicator of graft rejection and detection of fetal DNA in maternal plasma can be used for prenatal diagnosis in a noninvasive fashion (7, 8).”
Using Genetic Distance to Infer the Accuracy of Genomic Prediction (2015, background): “Predicting unobserved phenotypes using high-density SNP or sequence data is the foundation of many applications in medical diagnostics [1, 8, 18], plant [5, 46] and animal [21] breeding.”
Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus (2010, methodology): “Thus far, detection of paternally inherited traits [for example, sex (4) and rhesus D blood group status (5)] and fetal chromosomal aneuploidies (6, 7) is the main application.”
Cell-free DNA comprises an in vivo nucleosome footprint that informs its tissues-of-origin (2016, positive): “In pregnant women, ~10–15% of cfDNA originates from placental trophoblasts, and cfDNA-based screening for fetal genetic abnormalities is now common in high-risk pregnancies (Chiu et al., 2008; Fan et al., 2008).”