Simple test is now able to detect four more conditions

The heel-prick test on babies can now help detect nine conditions
The heel-prick test on babies can now help detect nine conditions

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It’s a test millions of parents will be familiar with, but now the heel-prick test for newborn babies will screen for four other conditions, bringing its total up to nine. Health reporter Priya Mistry speaks to a family whose 10-day-old son was diagnosed with one of these rare conditions because of the test.

Among the chaos and excitement of a new baby entering the world, you can sometimes forget about the tests and checks done on a newborn child.

The heel-prick test is offered to every baby, is given at five-days-old, and tests for five conditions.

A nurse will take a few droplets of blood from a baby’s heel and then place it on to a card.

This gets sent away for analysis in pathology labs across the country.

And this month another four rare tests have been added to check for.

The simple test takes seconds to do, and for most they do not need to worry about it again.

Rebecca Hall, of Fareham, didn’t think anything of her son Jonathan having the heel-prick test at Queen Alexandra Hospital.

As a mother to Rachel, four, Rebecca brushed the process off as a standard procedure on newborn babies – she never expected the call that was to follow.

She says: ‘When Jonathan was 10 days old, a doctor from QA phoned and asked myself and my husband Andrew to go to the hospital immediately to discuss the results.

‘We never imagined that an illness would be picked up, so I was shocked and scared about what could be wrong.’

Jonathan’s results indicated that he had medium-chain acyl-coa dehydrogenase deficiency (MCADD), which affects the breakdown of fat in the body and is life-threatening if not discovered early.

MCADD can cause a drop in an affected baby’s blood sugar level and this could result in severe illness or even death.

‘We had never heard of MCADD before that day,’ adds 30-year-old Rebecca.

‘But the doctor was fantastic in explaining to us what it was and that now it had been detected, what our next steps were.’

Portsmouth Hospitals NHS Trust (PHT), which runs QA in Cosham, say that before doctors started routinely testing for the condition, infant mortality from the disease had been attributed to cot death, and that estimates suggest that one in 20 sudden infant deaths were due to MCADD.

MCADD screening now forms part of the standard tests that are carried out across the country.

Previously, MCADD was only diagnosed when a child became seriously ill.

But thanks to routine testing, children such as Jonathan have benefited from early diagnosis.

This means that parents receive guidance about the specialist dietary support the child needs and what to do in an emergency, so that the child does not become dangerously unwell.

Rebecca says: ‘The hospital was so on the ball with everything.

‘At the end of the meeting we had a good knowledge of MCADD despite not knowing anything about it previously.

‘We were given a yellow card that would allow Jonathan to be seen immediately at the hospital should he fall ill.

‘We were also given a guide to outline how we should feed him in the future, for example, at the time of diagnosis Jonathan couldn’t go longer than six-hours without being fed.

‘This time limit has gradually increased over the months and now he’s 10 months old he is able to go all through the night without a feed.’ Rebecca says the family were immediately put in touch with a specialist medical team who are on-hand 24/7 if needed.

‘We are so grateful to the NHS for offering these screening programmes,’ she adds.

‘We dread to think what would have happened if Jonathan hadn’t routinely been screened for this.’

PHT screens more than 40,000 babies a year from across a wide area of southern England.

Since 2008, the department has referred 24 babies on to secondary care with MCADD.

David Sinclair, consultant clinical scientist and director of newborn screening for Wessex, says: ‘Newborn screening is the only part of pathology that everyone accesses, and it is a programme that has saved many lives over the years and offers immense benefits to our newborn babies.

‘MCADD can be a killer and we’ve just about stopped it in its tracks across Wessex– it’s brilliant public health.’

Now an extra four conditions are being screened for in babies, which have been approved by the National Screening Committee.

These conditions are treatable if they are caught early enough, they are:

- Maple syrup urine disease (MSUD).

- Isovaleric acidaemia (IVA).

- Glutaric aciduria type 1 (GA1).

- Homocystinuria (pyridoxine unresponsive) (HCU)

Mr Sinclair added: ‘From early 2015 all babies born in England are now offered expanded screening and an early diagnosis.

‘This means early treatment can improve their health and prevent severe disability or at worst even death.

‘We expect that screening for the extra four conditions will prove life-changing or life-saving for around 30 children and their families each year across the country.’

The other conditions the test picks up are sickle cell disease, cystic fibrosis, Phenylketonuria and congenital hypothyroidism.

More to look out for...

AFTER a successful trial of screening for four life-threatening conditions, the government has this month decided to roll out additions to the heel-prick test across the country.

A pilot programme run by Sheffield Children’s NHS Foundation Trust, in which more than 700,000 babies across the country were screened for the new diseases, detected 20 children with serious but treatable conditions.

Following the results, the National Screening Committee was able to recommend extending the newborn screening programme for these conditions:

- Homocystinuria – it causes a build-up of the amino acid homocysteine in blood and urine. Left untreated it can cause bone damage, visual problems and brain damage.

- Maple syrup urine disease – called this because of the sweet smell urine has, is a rare disorder that disrupts the normal functioning of amino acids inside the body.

Symptoms can range from the relatively mild, such as vomiting, to severe, such as seizures and coma.

- Glutaric aciduria type 1 – a genetic condition associated with amino acids dysfunction. Symptoms include muscle spasms and bleeding inside the eyes and the brain.

- Isovaleric acidaemia – is another genetic amino acid disorder. Initial symptoms include sweaty feet, but without treatment the condition can rapidly worsen, leading to seizures and, in some cases, coma. All of these can either be treated, or managed, through diet or medicine when detected early.