Notable contribution of large gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies. - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue European Journal of Human Genetics Année : 2010

Notable contribution of large gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies.

Résumé

Grade III fetal bowel hyperechogenicity and/or loop dilatation observed at the second trimester of pregnancy can be due to several disease conditions, including cystic fibrosis (CF). Screening for frequent CF mutations is performed as a first step and, in certain situations, e.g. when a frequent CF mutation is found in the fetus, the increased risk of CF justifies an in-depth study of the second allele. To determine the contribution of large gene rearrangements in such cases, detected by using a semi-quantitative fluorescent multiplex PCR (QFM-PCR) assay, we collated data on 669 referrals related to suspicion of CF in fetuses from 1998 to 2009. Deletions were found in 5/70 cases where QFM-PCR was applied: dele19, dele22_23, dele2_6b, dele14b_15 and dele6a_6b, of which the last three remain undescribed. In 3/5 cases, hyperechogenicity was associated with dilatation and/or gallbladder anomalies. Of the total cases of CF recognized in the subgroup of first-hand referrals, deletions represent 16.7% of CF alleles. Our study thus strengthens the need to consider large gene rearrangements in the diagnosis strategy of fetal bowel anomalies, in particular in the presence of multiple anomalies.
Fichier principal
Vignette du fichier
PEER_stage2_10.1038%2Fejhg.2010.80.pdf (209.04 Ko) Télécharger le fichier
Origine : Fichiers produits par l'(les) auteur(s)
Loading...

Dates et versions

hal-00540040 , version 1 (26-11-2010)

Identifiants

Citer

Emmanuelle Girodon, Alix de Becdelièvre, Catherine Costa, Annick Lefloch, Marie Legendre, et al.. Notable contribution of large gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies.. European Journal of Human Genetics, 2010, ⟨10.1038/ejhg.2010.80⟩. ⟨hal-00540040⟩

Collections

PEER UPEC
48 Consultations
95 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More