DNA Sequencing versus Standard Prenatal Aneuploidy Screening

To the Editor: Bianchi et al. (Feb. 27 issue) 1 described noninvasive diagnosis of fetal aneuploidy from cell-free DNA (cfDNA) in maternal plasma with the use of an Illumina HiSeq massively parallel sequencing platform and compared this method with standard prenatal aneuploidy screening. They conclu...

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Veröffentlicht in:The New England journal of medicine 2014-08, Vol.371 (6), p.577-578
Hauptverfasser: Liao, Can, Zhengfeng, Xu, Zhang, Kang, Vrachnis, Nikolaos, Vlachadis, Nikolaos, Creatsas, Georgios, Bianchi, Diana W, Rava, Richard P, Sehnert, Amy J
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container_end_page 578
container_issue 6
container_start_page 577
container_title The New England journal of medicine
container_volume 371
creator Liao, Can
Zhengfeng, Xu
Zhang, Kang
Vrachnis, Nikolaos
Vlachadis, Nikolaos
Creatsas, Georgios
Bianchi, Diana W
Rava, Richard P
Sehnert, Amy J
description To the Editor: Bianchi et al. (Feb. 27 issue) 1 described noninvasive diagnosis of fetal aneuploidy from cell-free DNA (cfDNA) in maternal plasma with the use of an Illumina HiSeq massively parallel sequencing platform and compared this method with standard prenatal aneuploidy screening. They concluded that prenatal screening by assay of cfDNA had significantly lower false positive rates and higher positive predictive values for detection of trisomies 21 and 18 than did standard screening. We screened for fetal aneuploidy using cfDNA from 2275 pregnant women (each of whom carried a single fetus) by means of a benchtop semiconductor sequencing platform (Ion . . .
doi_str_mv 10.1056/NEJMc1405486
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(Feb. 27 issue) 1 described noninvasive diagnosis of fetal aneuploidy from cell-free DNA (cfDNA) in maternal plasma with the use of an Illumina HiSeq massively parallel sequencing platform and compared this method with standard prenatal aneuploidy screening. They concluded that prenatal screening by assay of cfDNA had significantly lower false positive rates and higher positive predictive values for detection of trisomies 21 and 18 than did standard screening. 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subjects Aneuploidy
DNA sequencing
Down Syndrome - diagnosis
Female
Fetuses
Genetic Testing - methods
High-Throughput Nucleotide Sequencing
Humans
Pregnancy
Prenatal Diagnosis - methods
Trisomy - diagnosis
title DNA Sequencing versus Standard Prenatal Aneuploidy Screening
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