Screening Tests for Newborns

These programmes are overseen by the UK National Screening Committee (NSC) which currently recommends that all babies in the UK are offered screening at 5 – 8 days of age for:

• phenylketonuria (PKU)
• congenital hypothyroidism (CHT)
• sickle cell disorders (SCD)
• cystic fibrosis (CF)
• Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)

The UK Newborn Screening Programme Centre has responsibility for developing, implementing and maintaining the blood spot programme.

Other Conditions detected
Using these screening tests, very rarely other disorders may be detected. Unusual haemoglogbin disorders and other conditions such as beta thalassaemia major may be identified. In this condition, the baby does not make enough red blood cells, and needs treatment for severe anaemia. Some disorders which cause liver disease may be detected from the PKU programme. Both the CF programme and the Sickle programme will detect some carriers.Carriers are healthy and will not be affected by the condition.

Other Disorders
It is possible to screen for other disorders using the same dried blood spot but this is currently not recommended in the UK. The NSC keeps under the review the case for screening for other conditions – see UK National Screening Committee Portal