Uptake of newborn screening for rare conditions in Wales

  • Public Health Wales
  • 13 Nov 2019

  • curated by Pavankumar Kamat
  • UK Medical News
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According to the latest annual report from Newborn Bloodspot Screening Wales (NBSW), 31,048 Welsh newborns were screened for serious but rare clinical conditions between April 2018 and March 2019. This represents 99.5 per cent of all eligible babies in Wales.

The programme under Public Health Wales offers screening for rare diseases to all eligible babies at day 5 after birth. The conditions recommended by the UK National Screening Committee included in the screening programme include congenital hypothyroidism, cystic fibrosis, sickle cell disorders and several inherited metabolic disorders.

During the screening period highlighted in the report, 55 cases of rare yet serious conditions were identified, including phenylketonuria, cystic fibrosis, congenital hypothyroidism, phenylketonuria, maple syrup urine disease and sickle cell disorders.

Ruth Lawler, Head of Maternal and Child Screening at Public Health Wales, said: "It’s very pleasing to see that uptake of the test remains so high in Wales. Most babies screened will not have any of the conditions. However, for the small number that do, screening means that they can receive early specialist care and treatment which can improve their health and prevent severe disability or even death."