Optimal Detection of Fetal Chromosomal Abnormalities by Massively Parallel DNA Sequencing of Cell-Free Fetal DNA from Maternal Blood

J. Sehnert, Amy; Rhees, Brian; Comstock, David; de Feo, Eileen; Heilek, Gabrielle; M. Burke, John; P. Rava, Richard

doi:10.1373/clinchem.2011.165910

Public

Optimal Detection of Fetal Chromosomal Abnormalities by Massively Parallel DNA Sequencing of Cell-Free Fetal DNA from Maternal Blood

Published in Clinical Chemistry • Apr 26, 2011

Authors:

Amy J. Sehnert

Brian Rhees

David Comstock

Abstract

BACKGROUND: 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). METHODS: Blood samples...

Subject

Massive parallel sequencing

Trisomy

Karyotype

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