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Chiu and colleagues: maternal-plasma sequencing for trisomy 21 assessment

Evaluated multiplexed maternal-plasma DNA sequencing against fetal karyotyping in a large high-risk validation study for confirming or excluding trisomy 21.

What is recorded here?

Evaluated multiplexed maternal-plasma DNA sequencing against fetal karyotyping in a large high-risk validation study for confirming or excluding trisomy 21.

Source-linked catalogue note. A detailed explanatory guide has not yet been prepared for this entry.

Scientific scope

The record is the exact 24-author 2011 BMJ study in a high-risk population already indicated for invasive testing. Its validation population, archived samples, assay failures and reference standard bound the result; it is not a universal prenatal diagnosis or screening-policy recommendation.

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People and systems

Rossa W. K. Chiu; Ranjit Akolekar; Yama W. L. Zheng; Tak Y. Leung; Hao Sun; K. C. Allen Chan; Fiona M. F. Lun; Attie T. J. I. Go; Elizabeth T. Lau; William W. K. To; Wing C. Leung; Rebecca Y. K. Tang; Sidney K. C. Au-Yeung; Helena Lam; Yu Y. Kung; Xiuqing Zhang; John M. G. van Vugt; Ryoko Minekawa; Mary H. Y. Tang; Jun Wang; Cees B. M. Oudejans; Tze K. Lau; Kypros H. Nicolaides; Y. M. Dennis Lo

The named authors contributed to this scoped work; individual effort shares and later applications are not assigned by the byline.

Research locations and affiliations

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Documented countries / regions: China, United Kingdom, Netherlands

Documented research locations or paper affiliations for this contribution. Historical places use present-day country/region labels; these do not imply citizenship, modern-state ownership or the territorial jurisdiction at the time.

English catalogue narrative

Chiu and colleagues: maternal-plasma sequencing for trisomy 21 assessment

Evaluated multiplexed maternal-plasma DNA sequencing against fetal karyotyping in a large high-risk validation study for confirming or excluding trisomy 21.

Scientific scope

The record is the exact 24-author 2011 BMJ study in a high-risk population already indicated for invasive testing. Its validation population, archived samples, assay failures and reference standard bound the result; it is not a universal prenatal diagnosis or screening-policy recommendation.

Reading status

This is a source-linked WRS catalogue note. A full explanatory guide and independent scientific reconstruction have not been completed for this entry. Read the identified original work for its complete narrative and arguments.

People and systems

Rossa W. K. Chiu; Ranjit Akolekar; Yama W. L. Zheng; Tak Y. Leung; Hao Sun; K. C. Allen Chan; Fiona M. F. Lun; Attie T. J. I. Go; Elizabeth T. Lau; William W. K. To; Wing C. Leung; Rebecca Y. K. Tang; Sidney K. C. Au-Yeung; Helena Lam; Yu Y. Kung; Xiuqing Zhang; John M. G. van Vugt; Ryoko Minekawa; Mary H. Y. Tang; Jun Wang; Cees B. M. Oudejans; Tze K. Lau; Kypros H. Nicolaides; Y. M. Dennis Lo

The named authors contributed to this scoped work; individual effort shares and later applications are not assigned by the byline.

Original sources