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Base de données de l'Alliance Francophone pour l'Accouchement Respecté (AFAR)

Numéro de la fiche : 2055
Date de saisie : 26/06/2007
Date de modification : 31/03/2009

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URL de la fiche / URL da ficha : http://afar.info/id=2055

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Auteur(s) / Author(s) / Autores :

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

Année de parution :
Publication year:
Ano de publicação :

2006

Notice bibliographique :
Biblio entry:
Nota bibliográfica:

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

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):

DOI :

10.1002/pd.1524

CianeWiki :

http://ciane.net/wiki/pmwiki.php/Articles/2055

Remarques diverses :
Misc remarks:
Observações diversas:

Argument (français) :

Argument (English):

Argumento (português):

Mots clés :

dépistage / diagnostic prénatal / pathologies nouveau-né /

Keywords :

antenatal diagnosis / pathologies of newborn / screening /

Palavra-chaves :

despistagem / diagnóstico pré-natal / patologias do recem nascido /

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Cette base de données est gérée par l'Alliance Francophone pour l'Accouchement Respecté <http://afar.info> et alimentée par les contributions de bénévoles intéressés par le partage des informations scientifiques. Si vous approuvez ce projet, vous pouvez nous aider de plusieurs manières: (1) devenir membre de l'AFAR, (2) soutenir financièrement l'AFAR, (3) devenir contributeur sur cette base, si vous avez un peu d'expérience en documentation scientifique.

Numéro de la fiche : 2055 Date de saisie : 26/06/2007 Date de modification : 31/03/2009	Modifier cette fiche / Modify this record / Modificar esta ficha Ne suivez ce lien que si vous possédez un mot de passe administrateur ! Do not follow this link unless you know the admin password! Seguir este link apenas se tiver palavra chave do administrador! URL de la fiche / URL da ficha : http://afar.info/id=2055 spécialisé / hard / difícil
Auteur(s) / Author(s) / Autores :	Ali Saker, Alexandra Benachi, Jean Paul Bonnefont, Arnold Munnich, Yves Dumez, Bernard Lacour, Patrizia Paterlini-Brechot
Année de parution : Publication year: Ano de publicação :	2006
Notice bibliographique : Biblio entry: Nota bibliográfica:	Genetic characterisation of circulating fetal cells allows non-invasive prenatal diagnosis of cystic fibrosis. Prenat Diagn 2006; 26: 906–916.
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):
DOI :	10.1002/pd.1524
CianeWiki :	http://ciane.net/wiki/pmwiki.php/Articles/2055

Remarques diverses : Misc remarks: Observações diversas:
Argument (français) :
Argument (English):
Argumento (português):
Mots clés :	dépistage / diagnostic prénatal / pathologies nouveau-né /
Keywords :	antenatal diagnosis / pathologies of newborn / screening /
Palavra-chaves :	despistagem / diagnóstico pré-natal / patologias do recem nascido /