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Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach

Authors :
Nathan W. P. Cantley
Robert Barski
Helena Kemp
Sarah L. Hogg
Hoi Yee Teresa Wu
Ann Bowron
Catherine Collingwood
Jennifer Cundick
Claire Hart
Lynette Shakespeare
Mary Anne Preece
Helen Aitkenhead
Sarah Smith
Rachel S. Carling
Stuart J. Moat
Source :
International Journal of Neonatal Screening, Vol 10, Iss 1, p 2 (2023)
Publication Year :
2023
Publisher :
MDPI AG, 2023.

Abstract

In the UK, Classical Galactosaemia (CG) is identified incidentally from the Newborn Screening (NBS) for phenylketonuria (PKU) using an “Other disorder suspected” (ODS) pathway when phenylalanine (Phe) and tyrosine (Tyr) concentrations are increased. We aimed to determine the efficacy of CG detection via NBS and estimate the incidence of CG in live births in the UK. A survey was sent to all UK NBS laboratories to collate CG cases diagnosed in the UK from 2010 to 2020. Cases of CG diagnosed were determined if detected clinically, NBS, or by family screening, as well as age at diagnosis. Cases referred via the ODS pathway were also collated, including the final diagnosis made. Responses were obtained from 13/16 laboratories. Between 2010 and 2020, a total of 6,642,787 babies were screened, and 172 cases of CG were identified. It should be noted that 85/172 presented clinically, 52/172 were identified by NBS, and 17/172 came from family screening. A total of 117 referrals were made via the ODS pathway, and 45/117 were subsequently diagnosed with CG. Median (interquartile range) age at diagnosis by NBS and clinically was 8 days (7–11) and 10 days (7–16), respectively (Mann–Whitney U test, U = 836.5, p-value = 0.082). The incidence of CG is 1:38,621 live births. The incidence of CG in the UK is comparable with that of other European/western countries. No statistical difference was seen in the timing of diagnosis between NBS and clinical presentation based on the current practice of sampling on day 5. Bringing forward the day of NBS sampling to day 3 would increase the proportion diagnosed with CG by NBS from 52/172 (30.2%) to 66/172 (38.4%).

Details

Language :
English
ISSN :
2409515X
Volume :
10
Issue :
1
Database :
Directory of Open Access Journals
Journal :
International Journal of Neonatal Screening
Publication Type :
Academic Journal
Accession number :
edsdoj.79260bb016c04c578835f77e03d5ce0a
Document Type :
article
Full Text :
https://doi.org/10.3390/ijns10010002