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Wiley, Prenatal Diagnosis, 7(33), p. 707-710, 2013

DOI: 10.1002/pd.4130

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A robust second-generation genome-wide test for fetal aneuploidy based on shotgun sequencing cell-free DNA in maternal blood: A robust second-generation genome-wide test for fetal aneuploidy

This paper is available in a repository.
This paper is available in a repository.

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Abstract

The proof-of-principle of diagnosing fetal aneuploidy by shotgun sequencing cell-free DNA from maternal blood was demonstrated independently by two groups in 2008.(1,2) The strength of the initial approach was the fact that it was genome-wide by design, yet it was exclusively or mainly limited in scope to the detection of trisomy 21 (T21). Follow-up studies then substantiated the lower sensitivity of the approach for autosomal trisomies other than T21. This article is protected by copyright. All rights reserved.