Newborn babies across England will be screened for more debilitating genetic diseases from Monday. Cystic fibrosis and sickle cell disease are already picked up in the heel-prick blood test. Four rarer conditions will now also be tested for. Public Health England expects 30 cases will be identified each year, allowing life-saving treatment.

Wales will follow suit later this month, while Scotland and Northern Ireland have yet to make a decision. Babies currently have the heel-prick test at between five and eight days old to check for:

  • Phenylketonuria (PKU),
  • Congenital hypothyroidism (CHT),
  • Sickle cell disease
  • Cystic fibrosis
  • Medium-chain acyl-CoA dehydrogenase deficiency (MCADD).

The baby’s heel is pricked and drops of blood are collected and analysed, so babies can get the treatment and support they need from the earliest stage possible.

The extra conditions which will now also be tested for are:

  • Maple syrup urine disease
  • Homocystinuria
  • Glutaric acidaemia type 1
  • Isovaleric acidaemia

They are all inherited conditions where babies have problems breaking down amino acids, the “building blocks” of proteins. For example, maple syrup urine disease is caused by a build up of three amino acids: leucine, isoleucine and valine. Too much protein in the diet can lead to coma and permanent brain damage. However, early detection means a low protein diet and food supplements can reduce the impact of the disease.

No Comments

Leave a Comment