Article
Reclassifying inconclusive diagnosis after newborn screening for cystic fibrosis. Moving forward.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 May 2022
Hatton Aurelie, Bergougnoux Anne, Zybert Katarzyna, Chevalier Benoit, Mesbahi Myriam, Altéri Jean Pierre, Walicka-Serzysko Katarzyna, Postek Magdalena, Taulan-Cadars Magali, Edelman Aleksander, Hinzpeter Alexandre, Claustres Mireille, Girodon Emmanuelle, Raynal Caroline, Sermet-Gaudelus Isabelle, Sands Dorota
Abstract excerpt
BACKGROUND: Newborn screening for Cystic Fibrosis (CF) is associated with situations where the diagnosis of CF or CFTR related disorders (CFTR-RD) cannot be clearly ruled out. MATERIALS/PATIENTS AND METHODS: We report a case series of 23 children with unconclusive diagnosis after newborn screening for CF and a mean follow-up of 7.7 years (4-13). Comprehensive investigations including whole CFTR gene sequencing,...
Topics
- Child
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Genetic Testing
- Humans
- Infant, Newborn
- Mutation
- Neonatal Screening