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Benefits and limitations of Newborn Bloodspot Screening

Every newborn baby is offered newborn bloodspot screening, also known as the ‘heel-prick’. This screening is offered when the baby is between 3 and 5 days old and screens the baby’s blood for 9 rare but serious conditions:

  • Phenylketonuria
  • Homocystinuria
  • Maple Syrup Urine Disease
  • Classical Galactosaemia
  • Congenital Hypothyroidism
  • Cystic Fibrosis
  • Medium Chain Acyl-CoA Dehydrogenase Deficiency
  • Glutaric Aciduria Type 1
  • Adenosine Deaminase Deficiency Severe Combined Immunodeficiency (ADA-SCID)

Benefits of Newborn Bloodspot Screening

While these 9 conditions are very rare, for any baby that has any of these conditions, the benefits of screening are enormous. Detecting these conditions early means your baby can be started on treatment as soon as possible, to improve their health and help prevent severe disability or death occurring from the condition.

Limitations of Newborn Bloodspot Screening

The main limitations of newborn bloodspot screening are:

  • Newborn bloodspot screening will not detect all conditions screened for.
  • Newborn bloodspot screening does not make a diagnosis – it suggests that a baby may be at high risk of having one or more of the conditions screened for. This is known as ‘screen positive’
  • Newborn bloodspot screening may identify a baby that is screen positive but after further diagnostic tests it turns out that the baby does not have the condition – this is known as a ‘false positive
  • Newborn bloodspot screening may not identify a baby that is later diagnosed as having one of the conditions screened for. This is extremely rare and is known as a ‘false negative’. It means that even though the screening result showed your baby was at low risk of having the disease and doesn’t need further testing, they may still be diagnosed with one of the conditions screened for.
  • If, at any time, a parent or legal guardian has concerns about their baby or symptoms appear that they are worried about they should always contact their doctor.

page last reviewed: 24/01/2020
next review due: 24/01/2023