More than 99% of newborn babies screened for serious diseases

Between April 2018 and March 2019, 31,048 newborn babies in Wales were tested for serious but rare medical conditions. 

The figure, as detailed in the latest annual report from Newborn Bloodspot Screening Wales (NBSW), represents 99.5% of the eligible babies in Wales.

The screening programme, managed by the Screening Division of Public Health Wales, offers all eligible babies, at day five of life, screening for the following rare but serious diseases as recommended by the UK National Screening Committee:

  • Congenital hypothyroidism (CHT)
  • Cystic fibrosis (CF)
  • Inherited metabolic disorders (IMDs):
    • Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
    • Phenylketonuria (PKU)
    • Maple syrup urine disease (MSUD)
    • Isovaleric acidaemia (IVA)
    • Glutaric aciduria type 1 (GA1)
    • Homocystinuria (HCU)
  • Sickle cell disorders (SCD) 

The test is carried out by taking a small sample of blood from the baby’s heel on day five of life.

The sample is then screened for rare but serious diseases that respond to early intervention to reduce mortality and/or morbidity from the disease.

In the period covered by the report, the programme identified 55 cases of serious conditions 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.”

 “Expectant parents can find out more about the test and conditions screened for, and how the sample is taken by speaking to their midwife or by reading the newborn bloodspot screening information leaflet.

This is made available to women in pregnancy and after the birth and can also be downloaded from the Newborn Bloodspot Screening Wales website”.

The full 2018/19 Newborn Bloodspot Screening Wales Annual Report is available to view online here:


Newborn Bloodspot Screening Wales Annual Statistical Report 2018 - 2019

For more information on Newborn Bloodspot Screening Wales please visit: