[Changes in clinical practice related to the arrival of next-generation sequencing in the genetic diagnosis of developmental diseases].

Fiche publication

Date publication

février 2018


Archives de pediatrie : organe officiel de la Societe francaise de pediatrie


Membres identifiés du Cancéropôle Est :
Pr BEJEAN Sophie, Pr BINQUET Christine, Pr FAIVRE Laurence, Dr NAMBOT Sophie

Tous les auteurs :
Demougeot L, Houdayer F, Pélissier A, Mohrez F, Thevenon J, Duffourd Y, Nambot S, Gautier E, Binquet C, Rossi M, Sanlaville D, Béjean S, Peyron C, Thauvin-Robinet C, Faivre L


The arrival of high-throughput sequencing (HTS) has led to a sweeping change in the diagnosis of developmental abnormalities (DA) with or without intellectual deficiency (ID). With the prospect of deploying these new technologies, two questions have been raised: the representations of HTS among geneticists and the costs incurred due to these analyses.

Mots clés

Developmental abnormalities, Diagnosis, Genetics, Genomic medicine, High-throughput sequencing


Arch Pediatr. 2018 Feb;25(2):77-83