Expanded newborn blood spot screening

Professor Jim Bonham and Dr David Elliman discuss the outcome of the pilot programme to extend screening for newborn babies.

Babies currently have the heel prick test at five to eight days old (SPL)
Babies currently have the heel prick test at five to eight days old (SPL)

Since 5 January 2015, all newborn babies in England have been screened for a group of rare, but potentially disabling conditions:

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

Although these diseases only affect about 30 children a year in England (out of about 700,000 births), their early detection and treatment will prevent affected babies from dying or being severely disabled.

The test is performed using the same heel prick blood test that babies currently have at five to eight days old, usually carried out by a midwife in the community.

The test has been offered to newborns as part of the NHS Newborn Blood Spot Screening Programme for many years, to identify those at risk of sickle cell disease, cystic fibrosis, congenital hypothyroidism, phenylketonuria (PKU) and medium-chain acyl-CoA dehydrogenase deficiency (MCADD).

Adding the additional disorders to the test programme requires no new technology and no additional blood sampling.

The pilot programme

An extensive pilot programme has been co-ordinated by Sheffield Children's NHS Foundation Trust, in partnership with the South Yorkshire Collaboration for Leadership in Applied Health Research and Care.

The pilot scheme screened more than 430,000 babies for additional rare conditions and proved that the benefits of screening outweighed any possible harms, while also being cost-effective for the four conditions.

Following the pilot, and taking account of other evidence, the UK National Screening Committee was able to recommend extending the blood spot programme to screen for the four additional conditions.

These are very rare disorders (incidence ranges from approximately one in every 100,000 to one in every 150,000) and babies affected by them have problems breaking down the building blocks of proteins, leading to a build-up of toxins.

If these conditions are not picked up early, they almost always cause severe developmental problems, including serious mental disability and possibly coma, or even death.

The conditions require lifelong management through special diets and in some cases, supplementary vitamins or medicines. But wellmanaged treatment following early detection means these babies can live normal, healthy lives.

Parents with older babies who may have missed the new screening should be reassured that these conditions are incredibly rare and the small number of babies with one of the conditions would likely already have developed symptoms.

The screening programme has, however, produced resources to raise awareness of the conditions (see below), including their symptoms, and we would encourage all health professionals involved in child health to be aware of these. The symptoms are not always obvious (such as excessive sleepiness and floppiness), but they can develop quickly and without warning.

Like PKU and MCADD, these disorders are autosomal recessive inherited metabolic diseases and there is a one in four chance that the parents' future babies may also have the condition. So parents will understandably have questions about what this could mean for them.

  • Professor Bonham is national clinical lead, expanded newborn screening pilot programme, Sheffield Children's Hospital NHS Trust; Dr Elliman is consultant in community child health, Whittington Health NHS Trust

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