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Newborn Screening

scientist testing newborn screening samples

Our Newborn Screening Service performs testing for all babies born in South Yorkshire and East Midlands.

We are the second largest regional screening centre in the UK covering an area with an annual birth rate of more than 76,000.

The centre is well staffed and equipped with the latest analytical equipment linked to a new generation of laboratory IT system.

Disorders we test for

We test for six rare inherited metabolic disorders:

  • GA1 (glutaric aciduria type 1)
  • HCU (homocystinuria)
  • IVA (isovaleric acidaemia)
  • MCADD (medium-chain acyl-CoA dehydrogenase deficiency)
  • MSUD (maple syrup urine disease)
  • PKU (phenylketonuria)

These metabolic conditions are difficult to detect without screening and if unrecognised can lead to serious health problems.

These are rare conditions and patients affected can benefit enormously from the early detection and treatment screening enables.

We also test for three other conditions:

  • congenital hypothyroidism
  • cystic fibrosis
  • sickle cell disease
  • severe combined immunodeficiency (SCID)

The testing process

On the fifth day of a new baby’s life a midwife will visit the family home and take a blood spot sample by making a small prick on the baby’s heel.

The blood sample is then sent to our laboratories where scientists analyse it for nine rare disorders. It’s important that the testing is done quickly as treatment needs to start as soon as possible for these particular disorders.

There are three potential outcomes from the screening test:

  • normal – the vast majority of babies have clear results and you’ll receive a letter confirming this several weeks after the test.
  • insufficient – sometimes we need to take another sample and perform the tests again – this can be for a number of reasons and there is usually nothing wrong.
  • abnormal – in very rare cases we find abnormal results which indicate the baby may have one of the nine disorders. If this happens you will be contacted by our team of specialists to arrange for a second test at a regional centre to confirm the result. If the second result shows that the baby does have the suspected disorder, you will be given advice on the next steps.

The NHS UK Newborn Blood Spot Screening Programme website contains further information for parents, midwives and other health professionals on rare diseases, sample collection, policies and guidelines.

Support for patients with metabolic disorders

If a baby is found to have a rare metabolic disorder, they will be placed under the care of one of our Metabolic Consultants and supported by our specialist nurses until they reach adulthood.

Clinics take place in regional centres including Sheffield, Barnsley, Rotherham, Leicester and Nottingham.

Find out more about our Inherited Metabolic Disease (IMD) Service.

There are also a number of national support groups for inherited metabolic disorders. A good place to start is CLIMB, the national information centre for metabolic disease, who provide support for thousands of people with inherited metabolic disorders.

Expert newborn screening team

Members of the department play key roles in relevant professional bodies including the UK Newborn Screening Laboratory Network, Paediatric NEQAS (National External Quality Assessment Service), MetBioNet (a stakeholder group of labs involved in IMD testing and ERNDIM (an international EQA (External Quality Assessment) provider in the area).

Saturday newborn screening

If you have had a presumptive positive result through the Saturday expanded newborn screening service, you can find more information from the British Inherited Metabolic Diseases Group (BIMDG) in the links below:

For clinicians requiring more information about all three conditions, please visit the BIMDG website.

The information provided here is intended for use by the Sheffield Regional Newborn Screening Network and should be used in conjunction with telephone advice from the Sheffield Metabolic Consultant.

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