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=2055

Created on : 26 Jun 2007
Modified on : 31 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) :

Genetic characterisation of circulating fetal cells allows non-invasive prenatal diagnosis of cystic fibrosis. Prenat Diagn 2006; 26: 906–916.

Author(s) :

Ali Saker, Alexandra Benachi, Jean Paul Bonnefont, Arnold Munnich, Yves Dumez, Bernard Lacour, Patrizia Paterlini-Brechot

Year of publication :

2006

URL(s) :


https://doi.org/10.1002/pd.1524

Résumé (français)  :

Abstract (English)  :

Objectives Cystic fibrosis (CF) is an autosomal recessive disease due to mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The purpose of this study was to develop a molecular method to characterise both paternal and maternal CFTR alleles in DNA from circulating fetal cells (CFCs) isolated by ISET (isolation by size of epithelial tumour/trophoblastic cells).

Methods
The molecular protocol was defined by developing the F508del mutation analysis and addressing it both to single trophoblastic cells, isolated by ISET and identified by short tandem repeats (STR) genotyping, and to pooled trophoblastic genomes, thus avoiding the risk of allele drop out (ADO). This protocol was validated in 100 leucocytes from F508del carriers and subsequently blindly applied to the blood (5 mL) of 12 pregnant women, at 11 to 13 weeks of gestation, whose offspring had a 1/4 risk of CF. Ten couples were carriers of F508del mutation, while two were carriers of unknown CFTR mutations.

Results
Results showed that one fetus was affected, seven were heterozygous carriers of a CFTR mutation, and four were healthy homozygotes. These findings were consistent with those obtained by chorionic villus sampling (CVS).

Conclusion
Our data show that the ISET-CF approach affords reliable prenatal diagnosis (PND) of cystic fibrosis and is potentially applicable to pregnant women at risk of having an affected child, thus avoiding the risk of iatrogenic miscarriage. Copyright _ 2006 John Wiley & Sons, Ltd.

Sumário (português)  :

Full text (private) :

 ➡ Access requires authorization

Comments :

Argument (français) :

Argument (English):

Argumento (português):

Keywords :

➡ pathologies of newborn ; screening ; antenatal diagnosis

Author of this record :

Bernard Bel — 26 Jun 2007

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