Authors
Rossa WK Chiu, Ranjit Akolekar, Yama WL Zheng, Tak Y Leung, Hao Sun, KC Allen Chan, Fiona MF Lun, Attie TJI Go, Elizabeth T Lau, William WK To, Wing C Leung, Rebecca YK Tang, Sidney KC Au-Yeung, Helena Lam, Yu Y Kung, Xiuqing Zhang, John MG Van Vugt, Ryoko Minekawa, Mary HY Tang, Jun Wang, Cees BM Oudejans, Tze K Lau, Kypros H Nicolaides, YM Dennis Lo
Publication date
2011/1/11
Journal
Bmj
Volume
342
Publisher
British Medical Journal Publishing Group
Description
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.
Setting Prenatal diagnostic units in Hong Kong, United Kingdom, and the Netherlands.
Participants 753 pregnant women at high risk for fetal trisomy 21 who underwent definitive diagnosis by full karyotyping, of whom 86 had a fetus with trisomy 21.
Intervention Multiplexed massively parallel sequencing of DNA molecules in maternal plasma according to two protocols with different levels of sample throughput: 2-plex and 8-plex sequencing.
Main outcome measures Proportion of DNA molecules that originated from chromosome 21. A trisomy 21 …
Total citations
Scholar articles
RWK Chiu, R Akolekar, YWL Zheng, TY Leung, H Sun… - Bmj, 2011