Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood

By H. C. Fan, Y. Blumenfeld, U. Chitkara, L. Hudgins, Stephen R. Quake. Proceedings of the National Academy of Sciences of the United States of America, 2008

1,104 citations recorded by the source corpus.

Subfields: Genetics, Pediatrics, Perinatology and Child Health

View Paper: https://www.semanticscholar.org/paper/c13c9dcc935d350e5a345a0cb1a7fa39078ca821

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In Genetics

1. Bert Vogelstein
2. Giovanni Parmigiani
3. Dongbin Xiu

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 ).”
• Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma (2008, methodology): “also reported the use of Solexa sequencing for fetal chromosomal aneuploidy diagnosis (29).”
• 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.”
• Liquid Biopsies: Genotyping Circulating Tumor DNA (2014, background): “In fact, most cfDNA fragments measure between 180 and 200 base pairs, suggesting that apoptosis likely produces the majority of cfDNA in circulation.(6,17,21,55) The passive release of cfDNA into the bloodstream from apoptotic or necrotic cells is dependent on the location, size, and vascularity of ”
• 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 of ultra-rare mutations by next-generation sequencing (2012, background): “Clinical applications are rapidly being developed, such as prenatal screening for fetal aneuploidy (6), early detection of cancer (7), and monitoring its response to therapy (8) with nucleic acid-based serum biomarkers.”
• Enhancing the accuracy of next-generation sequencing for detecting rare and subclonal mutations (2018, background): “Fetal aneuploidies can be clinically detected by NGS with relative technical ease by simply counting the relative proportions of different chromosomes, even though fetal DNA is in the minority 158,159 .”
• 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).”