Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study

Chiu, Rossa W. K.; Akolekar, Ranjit; Zheng, Yama W. L.; Leung, Miriam T Y; Sun, Hao; Chan, K.C. Allen; Lun, Fiona M. F.; Go, Attie T. J. I.; Lau, Elizabeth T.; To, William Wing Kee; Leung, WC; Tang, R. Y. K.; Au-Yeung, Sidney K. C.; Lam, Hugh Simon; Kung, Y. Y.; Zhang, Xiaolang; Vugt, J. M. G. van; Minekawa, Ryoko; Tang, Mónica; Wang, Jian; Oudejans, Cees B.M.; Lau, Tze Kin; Nicolaides, K. H.; Lo, Yuk Ming Dennis

doi:10.1136/bmj.c7401

articleBMJJan 11, 2011HYBRID OA

Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study

RWRossa W. K. Chiu RARanjit Akolekar YWYama W. L. Zheng MTMiriam T Y Leung HSHao Sun

Chinese University of Hong Kong · Harris Birthright Research Centre for Fetal Medicine · +10 more institutions

PubMed

Indexed incrossrefpubmed

Abstract

Objectives

To validate the clinical efficacy and practical feasibility of massively parallel maternal plasma DNA sequencing to screen for fetal trisomy 21 among high risk pregnancies clinically indicated for amniocentesis or chorionic villus sampling.

Design

Diagnostic accuracy validated against full karyotyping, using prospectively collected or archived maternal plasma samples.

Citation impact

774

total citations

FWCI: 188.93
Percentile: 100%
References: 30

Citations per year

Authors

24

Topics & keywords

Topics

Keywords

Trisomy
Massive parallel sequencing
Amniocentesis
Medicine
Fetus
Obstetrics
Prenatal diagnosis
Aneuploidy

UN Sustainable Development Goals

Good health and well-being

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