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What are blood spot screening tests?

When a baby is about five days old, a midwife will collect a sample of blood by pricking the baby’s heel.

The card is sent off for analysis and parents receive the results of the blood spot test within a couple of months.

  • Sickle cell disease: an inherited blood disorder. Treating babies will help prevent serious illness.
  • Cystic fibrosis: a life-limiting inherited disorder that affects the internal organs, especially the lungs and digestive system.
  • Phenylketonuria (PKU): a very rare condition that can cause mental disability (but is treatable once diagnosed).
  • Congenital hypothyroidism: another rare condition that can lead to impaired growth and mental development. Treated babies can develop normally.
  • Medium-chain acyl Co-A dehydrogenase deficiency (MCADD): a rare, but potentially life-threatening inherited disorder, where fat cannot be broken down by the body as well as usual.*

*Babies with MCADD develop normally, but recognising the condition early enables parents to make sure they eat regularly and avoid serious illness.


Parents encouraged to take part in newborn screening test

We are delighted to co-ordinate this pilot study knowing it has the potential to help families whose child would otherwise experience significant health problems.

"We want mums and dads to be prepared in case they are asked to take part when they have their visit from the midwife.

"We would like to reassure them that the ordinary routine blood sample will be used to test for these additional conditions so no extra inconvenience is caused for the baby or their parents.

"Of course they do not have to take part and can choose to opt out if they wish."

– Dr Jim Bonham, Sheffield Trust

Where the screenings will take place

Newborn babies in six areas across the country will be screened Credit: Reuters

Sheffield, working in partnership with the South Yorkshire Collaboration for Leadership in Applied Health Research and Care, will co-ordinate the actions of six centres across the country and in addition to Sheffield Childrens NHS Foundation Trust.

Babies will also be screened at Leeds, Great Ormond Street, Manchester Childrens Hospital, Birmingham Childrens Hospital and Guy's and St Thomas'.

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