Irish Wedding News
09/05/2014
Currently, newborn babies are tested for genetic conditions such as cystic fibrosis or sickle cell disease, but four additional conditions are also now be tested via a heel-prick blood tests.
The news comes after a year-long pilot study, led by Sheffield Children's NHS Foundation Trust, which found 20 cases of the diseases in some 700,000 of babies tested. Those behind the initiative feel that the extra tests could make an "enormous difference" to the children and their families, as well as saving the NHS money by identifying the condition before children get sick.
Presently, babies receive the heel-prick test when they are between five and eight days old. The test checks for:
• Congenital hypothyroidism (CHT)
• Cystic fibrosis
• Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
• Phenylketonuria (PKU)
• Sickle cell disease
The extra conditions which will now also be tested for are:
• Glutaric acidaemia type 1
• Homocystinuria
• Isovaleric acidaemia
• Maple syrup urine disease
Each of the conditions are inherited and are where babies have trouble breaking down amino acids, the "building blocks" of proteins. If amino acid levels are too high it can be harmful.
Professor Jim Bonham, national lead for the project and director for newborn screening at Sheffield Children's NHS Foundation Trust, described the news of the rollout as "fantastic".
He added: "As a result of this study 20 children with serious but treatable disorders were discovered. We are delighted with the results because it shows how we can make an enormous difference for these children and their families, in some cases giving them the gift of life.
"Had it not been for the pilot scheme these children and their families' lives would have been very different. With the help of specialist metabolic physicians these children can be managed at home to allowing them to live healthy and happy lives.
"Importantly all newborn babies will now be checked for these conditions in addition to the current five for which every newborn is already screened."
(JP/IT)
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Babies To Be Tested For Rare Conditions
The number of conditions for which babies in England are screened for is to increase, it has been announced.Currently, newborn babies are tested for genetic conditions such as cystic fibrosis or sickle cell disease, but four additional conditions are also now be tested via a heel-prick blood tests.
The news comes after a year-long pilot study, led by Sheffield Children's NHS Foundation Trust, which found 20 cases of the diseases in some 700,000 of babies tested. Those behind the initiative feel that the extra tests could make an "enormous difference" to the children and their families, as well as saving the NHS money by identifying the condition before children get sick.
Presently, babies receive the heel-prick test when they are between five and eight days old. The test checks for:
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• Congenital hypothyroidism (CHT)
• Cystic fibrosis
• Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
• Phenylketonuria (PKU)
• Sickle cell disease
The extra conditions which will now also be tested for are:
• Glutaric acidaemia type 1
• Homocystinuria
• Isovaleric acidaemia
• Maple syrup urine disease
Each of the conditions are inherited and are where babies have trouble breaking down amino acids, the "building blocks" of proteins. If amino acid levels are too high it can be harmful.
Professor Jim Bonham, national lead for the project and director for newborn screening at Sheffield Children's NHS Foundation Trust, described the news of the rollout as "fantastic".
He added: "As a result of this study 20 children with serious but treatable disorders were discovered. We are delighted with the results because it shows how we can make an enormous difference for these children and their families, in some cases giving them the gift of life.
"Had it not been for the pilot scheme these children and their families' lives would have been very different. With the help of specialist metabolic physicians these children can be managed at home to allowing them to live healthy and happy lives.
"Importantly all newborn babies will now be checked for these conditions in addition to the current five for which every newborn is already screened."
(JP/IT)
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