Fatal genetic condition added to list of conditions now tested in newborn babies using heel prick method

Late diagnosis of severe combined immunodeficiency (SCID) can lead to the premature death of children

Testing for a rare and fatal genetic condition is to be included in the heel prick test which is administered to new born infants in the Republic.

The National Newborn Bloodspot Screening Programme (NNBSP) will now test for 10 conditions from a blood sample taken between the first 72 to 120 hours of life.

Severe combined immunodeficiency (SCID) is a rare, life-threatening, inherited condition that results in a child having low levels of T-cells.

This causes the child to have a weakened immune system, and therefore to be very vulnerable to infection. SCID can be identified through screening, family history or the development of severe and or recurrent infections.

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The prevalence of SCID in Ireland is relatively high at 1 in 39,760 live births and there have been 27 infants diagnosed from 2005 to 2020 with the disease.

HIQA deputy chief executive Dr Máirín Ryan said the inclusion of SCID will allow for earlier access to potentially curative treatment and will be of benefit to the families of children with SCID too.

If left untreated it can be fatal within the first year of an infant’s life, but early diagnosis can be critical in saving a child’s life. A baby with SCID who receives a bone marrow transplant within the first three and a half months of life has a 94 per cent chance of survival.

Dr Ryan said SCID is such a rare condition that it is hard to tell what the real prevalence of it is in Ireland. Some infants may die without a diagnosis.

Currently about a third of those with the condition are identified because a member of the family has it, but many children are diagnosed very late after they are seen not to thrive in the first three to nine months of life.

“A bone marrow transplant delivers better outcome and better life chances for the children involved. You are looking for a disease with severe consequences if it is not identified,” she explained.

“You are looking for something where there is a treatment available if you find the disease earlier and you want something where the test is accurate and that is the case for SCID,” she said.

The cost of including SCID as a 10th condition to be tested is estimated at €3.66 million over five years.

The Health Information and Quality Authority (HIQA) has also held out the possibility of an 11th condition, Spinal Muscular Atrophy, being added to the list of conditions being tested by the heel prick programme.

Spinal Muscular Atrophy is now the subject of a health technology assessment (HTA) and it will make a recommendation next year.

HIQA deputy chief executive Dr Máirín Ryan said the inclusion of SCID will allow for earlier access to potentially curative treatment and will be of benefit to the families of children with SCID too.

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