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Optimal Detection of Fetal Chromosomal Abnormalities by Massively Parallel DNA Sequencing of Cell-Free Fetal DNA from Maternal Blood
Author(s) -
Amy J. Sehnert,
Brian Rhees,
David Comstock,
Eileen de Feo,
Gabrielle Heilek,
John M. Burke,
Richard P. Rava
Publication year - 2011
Publication title -
clinical chemistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.705
H-Index - 218
eISSN - 1530-8561
pISSN - 0009-9147
DOI - 10.1373/clinchem.2011.165910
Subject(s) - massive parallel sequencing , trisomy , karyotype , cell free fetal dna , dna sequencing , biology , fetus , chromosome 21 , chromosome , aneuploidy , genetics , prenatal diagnosis , dna , computational biology , gene , pregnancy
Massively parallel DNA sequencing of cell-free fetal DNA from maternal blood can detect fetal chromosomal abnormalities. Although existing algorithms focus on the detection of fetal trisomy 21 (T21), these same algorithms have difficulty detecting trisomy 18 (T18).

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