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

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

doi:10.1136/bmj.c7401

Public

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

Published in BMJ • Jan 11, 2011

Authors:

Rossa W. K. Chiu

Ranjit Akolekar

Yama W. L. Zheng

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 f...

Subject

Trisomy

Massive parallel sequencing

Amniocentesis

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