Posts Tagged ‘laboratory’

Heel-prick screening expanded

Friday, January 9th, 2015
The heel-prick test that newborn babies throughout England have when they are between five and eight days old now include checks for more debilitating genetic diseases.

Blood is collected by a midwife, generally within the first week of life. The baby’s heel is pricked and drops of blood are collected and analysed in a specialist newborn screening laboratory; the current heel-prick test checks for

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

Four rarer conditions will now also be tested for:-

  • 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, and Public Health England expects 30 cases will be identified each year, allowing life-saving treatment.

The increased screening follows a year-long pilot programme of expanded screening, run by Sheffield Children’s NHS Foundation Trust. This found 20 confirmed cases of the four extra conditions, in 700,000 babies. Wales will follow suit on the 12th of January, Scotland and Northern Ireland have not yet made a decision.