Life-saving baby screening scheme expanded

Newborn babies across England will be screened for more debilitating genetic diseases from Monday.

In addition to cystic fibrosis and sickle cell disease, four rarer conditions will now be tested through the the heel-prick blood test.

Public Health England anticipates 30 cases will be identified each year leading to life-saving treatment.

Babies currently have the heel-prick test at around 1 week old to check for:

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

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

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

All of the conditions mentioned are inherited and babies diagnosed have problems breaking down amino acids, the “building blocks” of proteins. When a child is suffering from one of these conditions, too much protein in the diet can lead to coma and permanent brain damage. These tests will however allow a low protein diet and food supplements to be administered to reduce the impact of the disease.


Are these tests a life-saver?

A year-long pilot programme of expanded screening has already taken place at Sheffield Children’s NHS Foundation Trust and found 20 confirmed cases of the four extra conditions in 700,000 babies.

Dr Anne Mackie, director of programmes for the NHS Screening Programmes, said:

“Screening for these rare disorders has the potential to benefit around 30 children in England each year.

“The early identification of these conditions can prevent death and significantly improve the quality of life for those living with these conditions.”

Public health minister for England, Jane Ellison added:

“Expanding the screening has the potential to make a huge difference to the lives of babies born with rare genetic disorders.

“Detecting the disorders early can help prevent babies being severely disabled or even dying, which is absolutely vital for the families affected.”

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