Choose your font:
 Arimo
 Merriweather
 Mukta Malar
 Open Sans Condensed
 Rokkitt
 Source Sans Pro
 Login


 English 
 Français 
 Português 

[Valid RSS] RSS
bar

Database - Alliance francophone pour l'accouchement respecté (AFAR)

Description of this bibliographical database (AFAR website)
Currently 3046 records
YouTube channel (tutorial)

https://afar.info/id=2318

Created on : 03 Mar 2009
Modified on : 29 Mar 2009

 Modify this record
Do not follow this link unless you know an editor’s password!


Share: Facebook logo   Tweeter logo   Hard

Bibliographical entry (without author) :

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. PNAS December 23, vol. 105 no. 51 20458-20463.

Author(s) :

Rossa W.K. Chiu, K.C. Allen Chan, Yuan Gao, Virginia Y.M. Lau, Wenli Zheng, Tak Y. Leung, Chris H.F. Foo, Bin Xie, Nancy B.Y. Tsui, Fiona M.F. Lun, Benny C.Y. Zee, Tze K. Lau, Charles R. Cantor, Y.M. Dennis Lo

Year of publication :

2008

URL(s) :


https://doi.org/10.1073/pnas.0810641105

Résumé (français)  :

Contributed by Charles R. Cantor, October 22, 2008 (received for review September 29, 2008)

Abstract

Chromosomal aneuploidy is the major reason why couples opt for prenatal diagnosis. Current methods for definitive diagnosis rely on invasive procedures, such as chorionic villus sampling and amniocentesis, and are associated with a risk of fetal miscarriage. Fetal DNA has been found in maternal plasma but exists as a minor fraction among a high background of maternal DNA. Hence, quantitative perturbations caused by an aneuploid chromosome in the fetal genome to the overall representation of sequences from that chromosome in maternal plasma would be small. Even with highly precise single molecule counting methods such as digital PCR, a large number of DNA molecules and hence maternal plasma volume would need to be analyzed to achieve the necessary analytical precision. Here we reasoned that instead of using approaches that target specific gene loci, the use of a locus-independent method would greatly increase the number of target molecules from the aneuploid chromosome that could be analyzed within the same fixed volume of plasma. Hence, we used massively parallel genomic sequencing to quantify maternal plasma DNA sequences for the noninvasive prenatal detection of fetal trisomy 21. Twenty-eight first and second trimester maternal plasma samples were tested. All 14 trisomy 21 fetuses and 14 euploid fetuses were correctly identified. Massively parallel plasma DNA sequencing represents a new approach that is potentially applicable to all pregnancies for the noninvasive prenatal diagnosis of fetal chromosomal aneuploidies.

Abstract (English)  :

Sumário (português)  :

Comments :

Voir discussion sur la page wiki

Argument (français) :

Argument (English):

Argumento (português):

Keywords :

➡ antenatal diagnosis ; trisomy

Author of this record :

Bernard Bel — 03 Mar 2009

Discussion (display only in English)
 
➡ Only identified users



 I have read the guidelines of discussions and I accept all terms (read guidelines)

barre

New expert query --- New simple query

Creating new record --- Importing records

User management --- Dump database --- Contact

bar

This database is managed by Alliance francophone pour l'accouchement respecté (AFAR, https://afar.info)
affiliated with Collectif interassociatif autour de la naissance (CIANE, https://ciane.net).
It is fed by the voluntary contributions of persons interested in the sharing of scientific data.
If you agree with this project, you can support us in several ways:
(1) contributing to this database if you have a minimum training in documentation
(2) or financially supporting AFAR (see below)
(3) or joining the AFAR (or another society affiliated with CIANE).
Sign in or create an account to follow changes or become an editor.
Contact afar.association(arobase)gmail.com for more information.

Valid CSS! Valid HTML!
Donating to AFAR (click “Faire un don”) will help us to maintain and develop sites and public
databases towards the support of parents and caregivers’ informed decisions with respect to childbirth