Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.
CDSP
CTD
CUD
NBS
PCD
newborn screening
primary carnitine deficiency
Journal
International journal of neonatal screening
ISSN: 2409-515X
Titre abrégé: Int J Neonatal Screen
Pays: Switzerland
ID NLM: 101665400
Informations de publication
Date de publication:
01 Feb 2023
01 Feb 2023
Historique:
received:
01
01
2023
revised:
24
01
2023
accepted:
28
01
2023
entrez:
22
2
2023
pubmed:
23
2
2023
medline:
23
2
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 36810318
pii: ijns9010006
doi: 10.3390/ijns9010006
pmc: PMC9944086
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
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