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

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%).

Neonatal TSH levels in Northern Ireland from 2003 to 2014 as a measure of population iodine status.

OBJECTIVE: The re-emergence of iodine deficiency in the UK has recently been reported in a large cohort of teenage girls including from Northern Ireland (NI) using the gold standard spot urinary iodine concentration. We wished to explore and confirm this by analysing neonatal thyroid-stimulating hormone (nTSH) levels in the NI population. DESIGN: We analysed the nTSH heel prick tests results from the NI national screening database between 2003 and 2014. The WHO proposes a definition for population iodine sufficiency at <3% of the population with nTSH results >5 mIU/L. METHODS: Anonymized results from 288 491 nTSH tests were retrieved, and prevalence rates of results at increasing cut-offs including >2 mIU/L and >5 mIU/L calculated. We also assessed for possible seasonal variation in nTSH results. RESULTS: An overall population prevalence of 0.49% with TSH >5 mIU/L was found, indicating population iodine sufficiency with no year attaining a prevalence >3%. The prevalence of nTSH >2 mIU/L decreased to 4.1% in 2007 and subsequently increased to 9.8% in 2014. Modest seasonal variation was also detected, with higher levels among April/May births. CONCLUSIONS: The neonatal TSH database suggests iodine sufficiency in the NI population. However, the rising frequency of results >2 mIU/L may indicate an emerging mild iodine deficiency. This is one of the largest and longest studies of its kind in the UK and the first carried out in NI. The summer months may be a time of increased risk of iodine deficiency in our pregnant women whose requirements are increased and who are not currently targeted by any iodine fortification programme in the UK.