A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child.

ABSTRACT:

Background

Primary carnitine deficiency is an inborn error of metabolism, which can lead to life-threating complications early in life. Low carnitine levels can be detected by newborn bloodspot screening (NBS). However, NBS can also identify, mostly asymptomatic, mothers with primary carnitine deficiency. To identify mothers' needs and areas for improving screening practice, this study explored the experiences with, and opinions on primary carnitine deficiency screening in NBS among women diagnosed through NBS of their newborn.

Methods

Twelve Dutch women were interviewed, 3-11 years after diagnosis. Data were analysed using a thematic approach.

Results

Four main themes were derived: 1) psychological impact of primary carnitine deficiency diagnosis, 2) becoming a patie

SUBMITTER: van den Heuvel LM 

PROVIDER: S-EPMC10236393 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature