Pilot study to test newborns for rare illnesses

Tuesday, 10 April 2012 9:27 AM

More than 400,000 babies will be screened for debilitating, rare inherited conditions as part of a ground-breaking pilot to see if more rare illnesses can be identified early on.

Researchers will then assess whether getting treatment quicker will give them a better chance of leading long, happy lives.

Currently every baby born in the UK, around 700,000 a year, is tested for one of five illnesses - ¬sickle cell, cystic fibrosis, phenylketonuria (PKU), congenital hypothyroidism (CHT), and medium chain acyl-CoA dehydrogenase deficiency (MCADD).

The test, which is done through taking a pinprick of blood from the baby’s heel in their first week of life, will now be used to look for five more rare conditions.

Each year, around a thousand children are diagnosed through the pinprick test. This screening method means that babies are diagnosed early on and appropriate treatment and support is given.

The new conditions that the pilots in Sheffield, Leeds, Manchester, Birmingham and some areas in London, will be screening for are: Maple syrup urine disease, Homocystinuria, Glutaric acidaemia type 1, Isovaleric acidaemia and Long chain fatty acidaemia.

The pilot scheme will help babies get the important treatment they need.

The trial, which will run for one year from July 2012, will be funded by the National Institute of Health Research which is providing £600,000 to researchers based at Sheffield Children’s NHS Foundation Trust. The results of the trial will be evaluated after a year and results will be considered by the UK National Screening Committee.

The move comes as the UK National Screening Committee celebrates the 10th anniversary of the newborn screening programme.

Professor Dame Sally Davies, Chief Medical Officer for England, said: “This is a fantastic step forward for the newborn screening programme and shows the NHS at the cutting-edge. This pilot will identify more babies with serious conditions, giving them the chance to live a long, healthy life.”

Want to be the first to hear all our health, fitness and beauty news? Follow @TotallyLiving on Twitter.

Related stories



NordicTrack Logo
NordicTrack is a brand of ICON Health and Fitness, a leading manufacturer of a range of fitness products that are distributed around the world.


OXYfit Logo
OXYfit offers portable oxygen in a can. This product offers a convenient solution to increasing your oxygen intake, helping you to feel alert, clear-headed and stress-free. It's also a useful option for those who have short term breathlessness.

Twitter Feed

Join the conversation at #TotallyLiving

Directory articles

A guide to Rasul Therapy

Rasul therapy is ideal for de-stressing and rebalancing the body.

How to rejuvenate yourself for summer

Whether you're preparing for a summer holiday or recovering from one, there's plenty of reasons to restore, heal and rejuvenate your body for the season.

How to get the most out of your workout

Looking to improve your workout? Read our top tips here.