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Newborn screening tests

Thousands of babies in six areas across the country are to be screened for five rare diseases which - undetected - cause severe disability. Around 430,000 newborns will be tested in the one-year study, which is being launched today.

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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.

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