McDonald TJ, et al. – The physicians aimed to evaluate if neonatal diabetes could be diagnosed earlier by measuring glucose in a dried blood spot collected on day 5 of life. They suggested that neonatal diabetes could be detected on day 5 of life, preceding conventional diagnosis in most cases. However, earlier diagnosis by systematic screening could lead to prompt genetic diagnosis and targeted treatment, thereby avoiding the most severe sequelae of hyperglycaemia in neonates.

Methods

• It was a retrospective case–control study.
• For the purpose of this study, the researchers retrieved blood spot cards from eleven infants with genetically confirmed neonatal diabetes (median age of diagnosis 6 [range 2–112] days).
• For each case they also obtained 1 (n = 5) or 2 (n = 6) control blood spot cards gathered on the same day.
• Glucose was measured on case and control blood spot cards.
• They established a normal range for random glucose at day 5 of life in six hundred eighty seven non-diabetic neonates.

Results

• According to the findings obtained, all eleven neonates with diabetes had hyperglycaemia present on day 5 of life, with blood glucose levels ranging from 10.2 mmol/l to >30 mmol/l (normal range 3.2–6.0 mmol/l).
• In 6 of these neonates the diagnosis of diabetes was made after screening at day 5, with the latest diagnosis made at four months.