Incidental detection of classical galactosemia through newborn screening for phenylketonuria: a 10-year retrospective audit to determine the efficacy of this approach

Cantley, Nathan W. P., Barski, Robert, Kemp, Helena, Hogg, Sarah L., Wu, Hoi Yee Teresa, Bowron, Ann, Collingwood, Catherine, Cundick, Jennifer, Hart, Claire, Shakespeare, Lynette, Preece, Mary Anne, Aitkenhead, Helen, Smith, Sarah, Carling, Rachel S. and Moat, Stuart J. 2023. Incidental detection of classical galactosemia through newborn screening for phenylketonuria: a 10-year retrospective audit to determine the efficacy of this approach. International Journal of Neonatal Screening 10 , 2. 10.3390/ijns10010002

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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%).

Item Type:	Article
Date Type:	Published Online
Status:	Published
Schools:	Medicine
Additional Information:	License information from Publisher: LICENSE 1: URL: https://creativecommons.org/licenses/by/4.0/, Type: open-access
Publisher:	MDPI
Date of First Compliant Deposit:	11 January 2024
Date of Acceptance:	15 December 2023
Last Modified:	11 Jan 2024 12:31
URI:	https://orca.cardiff.ac.uk/id/eprint/165415

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