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Information for Parents

What is newborn bloodspot screening?

Newborn bloodspot screening is when a small sample of blood is taken from the baby’s heel, on day five of the baby’s life. This blood sample is screened for rare but serious diseases that can cause serious illness or even death if not treated early.  The screening test is carried out by a midwife and is part of routine postnatal care.

What is the aim of the newborn bloodspot screening programme in Wales?

The aim is to offer all eligible babies screening for rare but serious diseases that would benefit from early intervention and reduce mortality and or morbidity from the disease.

What are newborn babies screened for?

In Wales all babies are offered screening for the following conditions:

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

Screening for all of the conditions is recommended by the UK National Screening Committee.