Search results for "Nervous System Malformation"
showing 2 items of 12 documents
Prenatal diagnosis of cerebral malformation with an uncertain prognosis: a study concerning couple's information and consequences on pregnancy.
2004
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.…
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital
2022
BackgroundArthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families.MethodsSeveral genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants.ResultsWe achieved disease gene identification in 52.7% of AMC index pati…