Title :

Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France

Author(s) :

Lefèvre, Charles [Auteur]
Labarthe, François [Auteur]
Niche, Nutrition, Cancer et métabolisme oxydatif [N2Cox]
Centre Hospitalier Régional Universitaire de Tours [CHRU Tours]
Dufour, Diane [Auteur]
Imaging, Brain & Neuropsychiatry [iBraiN]
Centre Hospitalier Régional Universitaire de Tours [CHRU Tours]
moreau, caroline [Auteur]
Institut de recherche en santé, environnement et travail [Irset]
École des Hautes Études en Santé Publique [EHESP] [EHESP]
Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Pontchaillou]
Faoucher, Marie [Auteur]
Institut de Génétique et Développement de Rennes [IGDR]
Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Pontchaillou]
Rollier, Paul [Auteur]
Centre de référence Maladies Rares CLAD-Ouest [Rennes]
Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Pontchaillou]
Arnoux, Jean-Baptiste [Auteur]
Hôpital Necker - Enfants Malades [AP-HP]
Tardieu, Marine [Auteur]
Centre Hospitalier Régional Universitaire de Tours [CHRU Tours]
Damaj, Léna [Auteur]
Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Pontchaillou]
Bendavid, Claude [Auteur]
Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Pontchaillou]
Dessein, Anne-Frédérique [Auteur]
Hétérogénéité, Plasticité et Résistance aux Thérapies des Cancers = Cancer Heterogeneity, Plasticity and Resistance to Therapies - UMR 9020 - U 1277 [CANTHER]
Acquaviva-Bourdain, Cécile [Auteur]
Cheillan, David [Auteur]
Groupement Hospitalier Lyon-Est [GHE]
Cardiovasculaire, métabolisme, diabétologie et nutrition [CarMeN]

Journal title :

International Journal of Neonatal Screening

Pages :

6

Publisher :

MDPI

Publication date :

2023-03

ISSN :

2409-515X

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Primary Carnitine Deficiency (PCD) is a fatty acid oxidation disorder that will be included in the expansion of the French newborn screening (NBS) program at the beginning of 2023. This disease is of high complexity to ...
Show more >Primary Carnitine Deficiency (PCD) is a fatty acid oxidation disorder that will be included in the expansion of the French newborn screening (NBS) program at the beginning of 2023. This disease is of high complexity to screen, due to its pathophysiology and wide clinical spectrum. To date, few countries screen newborns for PCD and struggle with high false positive rates. Some have even removed PCD from their screening programs. To understand the risks and pitfalls of implementing PCD to the newborn screening program, we reviewed and analyzed the literature to identify hurdles and benefits from the experiences of countries already screening this inborn error of metabolism. In this study, we therefore, present the main pitfalls encountered and a worldwide overview of current practices in PCD newborn screening. In addition, we address the optimized screening algorithm that has been determined in France for the implementation of this new condition.Show less >

Language :

Anglais

Collections :

• Cancer Heterogeneity, Plasticity and Resistance to Therapies (CANTHER) - UMR 9020 - UMR 1277

Source :

Harvested from HAL

Submission date :

2023-07-20T02:39:43Z