430,000 newborns to be tested in new screening test

Newborn babies in six areas across the country will be screened Photo: Reuters

Thousands of babies in six areas across the country are to be screened for five rare diseases which - undetected - cause severe disability.

Around 430,000 newborns will be tested in the year long study, which starts today, and about 16 children are expected to be diagnosed and treated early enough to help them live normal lives.

The study will help determine if undiagnosed illnesses can be prevented from developing in children.

If they are not diagnosed early in life sometimes the consequences can be quite devastating.

We hope that this evaluation will provide valuable new insights making a big difference to the lives of a number of children and we value your support.

– Dr Jim Bonham, Sheffield Trust

When a baby is about five days old, a midwife will collect a sample of blood by pricking the baby’s heel.

The card is sent off for analysis and parents receive the results of the blood spot test within a couple of months.

The blood spot screening test helps to identify a range of health conditions, including.

Sheffield, working in partnership with the South Yorkshire Collaboration for Leadership in Applied Health Research and Care, will co-ordinate the actions of six centres across the country and in addition to Sheffield Childrens NHS Foundation Trust.

Babies will also be screened at Leeds, Great Ormond Street, Manchester Childrens Hospital, Birmingham Childrens Hospital and Guy's and St Thomas'.

The blood spot screening test helps to identify a range of health conditions, including;

  • Sickle cell disease: an inherited blood disorder. Treating babies will help prevent serious illness.
  • Cystic fibrosis: a life-limiting inherited disorder that affects the internal organs, especially the lungs and digestive system.
  • Phenylketonuria (PKU): a very rare condition that can cause mental disability (but is treatable once diagnosed).
  • Congenital hypothyroidism: another rare condition that can lead to impaired growth and mental development. Treated babies can develop normally.
  • Medium-chain acyl Co-A dehydrogenase deficiency (MCADD): a rare, but potentially life-threatening inherited disorder, where fat cannot be broken down by the body as well as usual. Babies with MCADD develop normally, but recognising the condition early enables parents to make sure they eat regularly and avoid serious illness.

Daybreak's Katy Fawcett and Dr Hilary Jones report.