Nonvisualization of fetal gallbladder increases the risk of cystic fibrosis.

Ingrid Duguépéroux 1, 2 Virginie Scotet 1, 2 Marie-Pierre Audrézet 1, 2 Anne-Hélène Saliou 3 Michel Collet 3, 4 Martine Blayau 5 Sébastien Schmitt 6 Alain Kitzis 7, 8 Fleur Fresquet 8 Françoise Müller 9 Claude Férec 1, 2
1 Génétique, génomique fonctionnelle et biotechnologies (UMR 1078)
2 Génétique moléculaire et génétique épidémiologique
3 BREST - Gynéco-Obs - Service de Gynécologie-Obstétrique
4 GETBO - Groupe d'Etude de la Thrombose de Bretagne Occidentale
5 Service de génétique clinique [Rennes]
6 Laboratoire de Génétique Moléculaire
7 Faculté de Médecine et de Pharmacie - Université de Poitiers
8 IPBC - Institut de physiologie et biologie cellulaires
9 Néphrologie Pédiatrique
Abstract : OBJECTIVE: The aim of our study is to evaluate the prevalence of cystic fibrosis (CF) in fetuses referred for genetic testing because of ultrasonographic sign (nonvisualized fetal gallbladder--NVFGB). METHOD: We reviewed the results of CFTR gene analysis over the period 2002 to 2009 in all consecutive cases referred because of NVFGB in Western France. We correlated these data with the presence of a more classical ultrasonographic finding (fetal echogenic bowel - FEB). RESULTS: Cystic fibrosis was diagnosed in 5 of the 37 fetuses with NVFGB (13.5%, 95% confidence interval (CI): [2.5%; 24.5%]) and in only 9 of the 229 other cases referred because of FEB (3.9%, 95% CI: [3.2%; 14.7%]). In our series, all CF-affected fetuses with NVFGB also had FEB. The risk of CF was 11.6-fold higher in fetuses with both indications (NVFGB + FEB) than in fetuses with isolated FEB (45.5% vs 3.9%, RR = 11.6, 95% CI: [4.7%; 28.8%], p = 0.0001). We also estimated that the residual risk of CF was less than 1 in 68 (1.5%) when a single mutation was identified in the fetus by our molecular protocol. CONCLUSION: Ultrasonographic evidence of NVFGB is an additional risk factor for CF in cases with FEB.
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Prenatal Diagnosis, Wiley, 2012, 32 (1), pp.21-8. 〈10.1002/pd.2866〉
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Contributeur : Ghislaine Calvez <>
Soumis le : jeudi 16 janvier 2014 - 09:23:46
Dernière modification le : samedi 24 mars 2018 - 01:48:01

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Ingrid Duguépéroux, Virginie Scotet, Marie-Pierre Audrézet, Anne-Hélène Saliou, Michel Collet, et al.. Nonvisualization of fetal gallbladder increases the risk of cystic fibrosis.. Prenatal Diagnosis, Wiley, 2012, 32 (1), pp.21-8. 〈10.1002/pd.2866〉. 〈hal-00931899〉

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