Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights.

ABSTRACT:

Background

Galactosemia was introduced into Taiwan's routine newborn screening (NBS) program in 1985. This study presents a 12-year experience, emphasizing disease diagnosis and screening performance.

Method

NBS for galactosemia utilized dried blood spot samples taken 48-72 h post-delivery, with total galactose (TGal) level as the primary marker. Newborns with critical TGal levels were referred immediately, while those with borderline TGal underwent a recall test. GALT activity measurement was applied simultaneously as the second-tier marker. Further confirmatory tests, such as whole exome sequencing (WES), were conducted upon referral.

Results

From January 1^st, 2011, to December 31^st, 2022, 51 cases were identified from 817,906 newborns. Of thes

SUBMITTER: Chen HA 

PROVIDER: S-EPMC10926206 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature