Numéro de la fiche : 2315 Date de saisie : 2/03/2009 Date de modification : 2/05/2009	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=2315 spécialisé / hard / difícil
Auteur(s) / Author(s) / Autores :	Hussein Mouawia, Jean-Philippe Jaïs, Alexandra Benachi, Ali Saker, Jean-Paul Bonnefont, Bernard Lacour, Patrizia Paterlini-Bréchot
Année de parution : Publication year: Ano de publicação :	2009
Notice bibliographique : Biblio entry: Nota bibliográfica:	Phase III clinical validation of a non-invasive strategy for prenatal diagnosis of spinal muscular atrophy and cystic fibrosis through the genetic analysis of circulating trophoblastic cells. (Submitted)
Résumé (français) :
Abstract (English):	Background. Chorionic-villous sampling (CVS), the procedure of choice for prenatal diagnosis of Spinal Muscular Atrophy (SMA) and Cystic Fibrosis (CF), generates a miscarriage rate of approximately 2 percent. Clinical validation of a non-invasive approach for prenatal diagnosis of these diseases is thus an important goal of modern obstetrical care. Methods. We performed a phase III clinical validation study of the previously reported ISET (Isolation by Size of Epithelial Trophoblastic cells) strategy for non-invasive prenatal diagnosis of SMA and CF, which targets single circulating fetal trophoblastic cells (CFTC). Since SMA and CF are uncommon diseases, statistical analysis was performed on the genetic diagnoses performed on individual CFTC: 10 analysed CFTC per mother and 32 mothers at risk of having a child affected by SMA or CF. Findings. Results were achieved blindly and were demonstrated to be identical to those obtained by the invasive CVS approach. Sensitivity computed on the 70 CFTC with mutated genome was 100% (95%CI: 94.8-100%), and specificity computed on the 250 CFTC without mutated genome was also 100% (95%CI : 98.5-100%). Interpretation. These results show the successful clinical validation of the ISET approach for prenatal diagnosis of SMA and CF and should stimulate the organization of larger cohort studies aimed at bringing a safe prenatal diagnosis of these two genetic disorders to clinical practice
Sumário (português):
CianeWiki :	http://cianewiki.naissance.asso.fr/articles/2315
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Argument (English):
Argumento (português):
Mots clés :	diagnostic prénatal / pathologies nouveau-né /
Keywords :	antenatal diagnosis / pathologies of newborn /
Palavra-chaves :	diagnóstico pré-natal / patologias do recem nascido /

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