0000000000274277
AUTHOR
Irène François
Information des couples et diagnostic prénatal d'une malformation cérébrale à pronostic incertain : analyse des pratiques
Resume L'echographie fœtale (EF) est l'element majeur du depistage des malformations fœtales. L'annonce d'une malformation cerebrale est particulierement delicate car pese souvent une double incertitude, diagnostique et pronostique. But. – L'objectif de cette etude a ete d'analyser comment s'organisent les pratiques en matiere de diagnostic prenatal par imagerie et comment sont realises la prise en charge et l'accompagnement des couples. Elle a particulierement porte sur les procedures d'information : contenu, condition de la delivrance, et leurs consequences. Methode. – Enquete multicentrique menee aupres de medecins referents de grands centres pluridisciplinaires de Paris et de sa region,…
Evaluation éthique des lois de bioéthique à partir de deux exemples : les banques d'ADN et le devenir des embryons.
International audience; Pas de résumé
Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey
Microarray-based comparative genomic hybridization (aCGH) is commonly used in diagnosing patients with intellectual disability (ID) with or without congenital malformation. Because aCGH interrogates with the whole genome, there is a risk of being confronted with incidental findings (IF). In order to anticipate the ethical issues of IF with the generalization of new genome-wide analysis technologies, we questioned French clinicians and cytogeneticists about the situations they have faced regarding IF from aCGH. Sixty-five IF were reported. Forty corresponded to autosomal dominant diseases with incomplete penetrance, 7 to autosomal dominant diseases with complete penetrance, 14 to X-linked di…
Prenatal diagnosis of cerebral malformation with an uncertain prognosis: a study concerning couple's information and consequences on pregnancy.
Abstract Fetal ultrasound (FU) is used during almost all pregnancies and makes a large contribution to the identification of fetal malformation. It is particularly difficult to announce a malformation, particularly those affecting the brain, because there are often doubts concerning both the diagnosis and the prognosis. Aim. – The aim of this study was to analyze how imaging for prenatal screening is organized and how couples are managed and supported. We concentrated on the procedures used to inform couples: content, method of delivery and consequences. Method. –: Study amongst large multidisciplinary centers in Paris and the Paris region, by semi-directed interviews using a questionnaire.…