Wednesday 25 April 2018

Cystic Fibrosis: 44 babies diagnosed since routine heel prick tests began in 2001

Eilis O'Regan

SOME 44 babies have been diagnosed with cystic fibrosis since since routine testing of newborns began in July 2011.

The earlier the inherited disease is diagnosed the better for the child as treatment can begin which improves their outlook.

The initial figures indicate that the incidence of the disease may be lower than originally thought-but more data is needed over a number of years to find out if this is consistent.

All newborns are now tested for cystic fibrosis as part of the heel prick test which screens babies for six rare conditions.

Dr Kevin Kelleher, Director of Health Protection in the HSE said , Dr Kevin Kelleher, said that this is the first time that data is available on the incidence of cystic fibrosis detected through newborn screening in Ireland.

 The overall incidence observed since July 2011 is 1 in 2,500 cases, lower than the 1 in 2,000 cases which had been estimated prior to the commencement of screening.

He added: “Though most babies are found to be healthy, if a baby has one of the rare conditions, the long-term benefit of early treatment is much greater than the small discomfort they feel when the blood sample is taken.”

The test screens for phenylketonuria, homocystinuria, maple syrup urine disease, classical galactosaemia, congenital hypothyroidism and cystic fibrosis (CF).

During 2012 there were 72,232 newborns screened and 12 were positive for phenylketonuria while 7 had classical galactosaemia.There were 42 positive cases of congenital hypothyroidism.

There were no cases of homocystinuria  or maple syrup urine disease.There were 28 cases of cystic fibrosis in 2012,

Between July 2011 to December 2012 there were  86 cases identified as carriers of the cystic fibrosis gene.

They do not fall ill with the condition but can pass on the condition if they later have children.



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