Expert / 2 February, 2017 / Dr Ellie Cannon

Newborn Screening Explained

We’ve seen a lot in the news recently about newborn screening, and we asked our resident expert Dr Ellie Cannon to explain a little more on the subject. A fascinating read! 

Newborn screening is one of those things that just happens in the crazy haziness of the first few days of your baby’s life with little fanfare. For most of us, the heelprick test thankfully makes very little impact on our lives while we are busy with our precious new baby. In fact you’ve probably never even heard of the sweetly named Maple Syrup Urine Disease or the slightly less catchy Isovaleric Acidaemia. But thankfully, newborn babies in this country are now being screened for quite a few of these inherited illnesses which are rare, but hugely devastating.

For many years the NHS has been testing UK babies when they are a week old – this is known as the heel-prick test and is a quick blood test taken from the heel. It usually goes by in a flash, and you only remember when you are sent the results in the post.

This old test was testing for diseases including cystic fibrosis, hypothyroidism and sickle cell disease. The idea of detecting these early is to prevent the damaging consequences and start treatment straight away. Babies with these conditions cannot grow and thrive, and early detection is the key to a much better prognosis.

In 2015 we are getting even more tests for our newborns and this is great news. From this year babies are also to be tested for 4 other genetic diseases which are equally damaging. These are very rare diseases which very few people have heard of such as the strangely-named Maple Syrup Urine Disease. It is called that incidentally because one of the first signs can be the smell of the urine of the baby, which smells particularly sweet.

Most people haven’t heard of these – they’re not big topics for discussion at antenatal classes or even at medical school to be honest. And that is because they are unusual – Maple Syrup Urine Disease affects 1 in 116,000 babies born in the UK each year.

But this new testing is really crucial. Although the conditions are very unusual, when they do occur they are devastating. The abnormal metabolism of the babies causes poor feeding, growth failure, brain damage and early death. If they are picked up early with the heel – prick test, treatment can be given early before any damage is done. This is a real chance to avoid something terrible in our precious children.

The new test will probably only benefit as few as 30 babies a year in the UK, but for those babies and their families it will be life-changing.

Dr Ellie Cannon author of ‘Keep Calm; the New Mum’s Manual’ (Vermilion) available at Amazon.com.