Newborn babies across England will be screened for more debilitating genetic diseases from Monday.
Cystic fibrosis and sickle cell disease are already picked up in the heel-prick blood test. Four rarer conditions will now also be tested for.
Public Health England expects 30 cases will be identified each year, allowing life-saving treatment.
Wales will follow suit later this month, while Scotland and Northern Ireland have yet to make a decision.
Babies currently have the heel-prick test at between five and eight days old to check for:
- Phenylketonuria (PKU),
- Congenital hypothyroidism (CHT),
- Sickle cell disease
- Cystic fibrosis
- Medium-chain acyl-CoA dehydrogenase deficiency (MCADD).
The baby’s heel is pricked and drops of blood are collected and analysed, so babies can get the treatment and support they need from the earliest stage possible.
The extra conditions which will now also be tested for are:
- Maple syrup urine disease
- Glutaric acidaemia type 1
- Isovaleric acidaemia
They are all inherited conditions where babies have problems breaking down amino acids, the “building blocks” of proteins.
For example, maple syrup urine disease is caused by a build up of three amino acids: leucine, isoleucine and valine.
Too much protein in the diet can lead to coma and permanent brain damage. However, early detection means a low protein diet and food supplements can reduce the impact of the disease.
A year-long pilot programme of expanded screening, run by Sheffield Children’s NHS Foundation Trust, found 20 confirmed cases of the four extra conditions, in 700,000 babies.
Dr Anne Mackie, director of programmes for the NHS Screening Programmes, said: “Screening for these rare disorders has the potential to benefit around 30 children in England each year.
“The early identification of these conditions can prevent death and significantly improve the quality of life for those living with these conditions.”
Wales has committed to starting screening on 12 January.
Public health minister for England Jane Ellison added: “This is really welcome news.
“Expanding the screening has the potential to make a huge difference to the lives of babies born with rare genetic disorders.
“Detecting the disorders early can help prevent babies being severely disabled or even dying, which is absolutely vital for the families affected.”
Poppy Bell-Minogue was nine months old when she became unwell.
Unbeknown to her parents, she had maple syrup urine disease, which had led to a harmful build-up of amino acids in the blood and was affecting her brain.
For Poppy’s mum, Samantha, and her husband, an early diagnosis of the disease would have made a huge difference.
Instead, they had to undergo several months of tests and brain scans before doctors diagnosed the rare disorder.
In the meantime, Poppy’s parents were told they would probably lose her.
Samantha says Poppy’s diet from birth would have been different, if they had known: “We wouldn’t have given her breast milk, formula milk or food high in proteins after she was weaned.”
Eating these foods made her condition worse and led to high levels of harmful amino acids in her body which may have damaged her brain.
With it being World Premature Day, I thought I’d share some of my pictures of when my babies were born Premature. A time of pure devastation as the babies were so poorly, needing to spend weeks and more so with Lauren months in hospital. Was more of a shock with me as it was the 1st time I’d ever seen such a small baby……3lb
Premature babies are so special, they are fighting for their life daily but are such an inspiration and overcome a lot of the odds stacked against them
In 2012 the number of stillbirths in the West Midlands, Yorkshire and Humber and the North East England dropped for the first time in 20 years due to the introduction of customised growth charts and growth assessment
by The Perinatal Institute. The Perinatal Institute have estimated that if every Trust adopts their Growth Assessment Protocol Programme (GAP), and a similar stillbirth reduction was achieved across the UK, 1000 stillbirths would be prevented every year!
Be wise to mum’s size
All babies are made to measure as mum’s bodies are unique. For example, European mums have bigger babies than Asian mums, and taller mums have bigger babies than smaller mums. Because all babies are different it is important that we take this into account when monitoring babies’ growth during pregnancy, however many hospitals do not take into account these variations when monitoring fetal growth.
Customised growth charts are generated using software which takes into account mums ethnicity, weight, height and how many babies she has had to produce a bespoke growth chart for midwives to use in the antenatal notes.
Good news – Introducing GAP
The Growth Assessment Protocol (GAP) is a programme by The Perinatal Institute which improves detectionof growth restricted babies through the use of customised charts, training, protocols and audit. Between 10-15% of babies born are growth restricted and the majority of these go undetected. By detecting these babies we hugely increase their chance of survival.
- Provision of customised growth charts and birthweight centiles via specialised software (as recommended by RCOG guidelines)
- Extensive training package and competency document for midwives, obstetricians and ultrasonographers which includes information on: fetal growth restriction and its association with stillbirth, risk assessment, principles of high and low risk care, standardised measurement of fundal height, use of customised growth charts and much more.
- Template protocols reflecting latest available evidence and guidelines.
- Data collection tool which provides local reports on rates of growth restriction and detection, so that units can monitor their own performance and progress.
- Tool to audit cases where growth restriction has been missed in order that units can learn from these incidents.
And the cost for each trust? Just 50p per pregnancy! Evidence suggests that running GAP is cost neutral and pays for itself. More information about GAP including research around the benefits can be found on The Perinatal Institute website. You can also read how GAP is reducing stillbirth in this BMJ Open article.
Is your hospital on board GAP?
Since 2013, GAP has been adopted in over half of the UK’s maternity units. Here’s a list of who has already adopted GAP.
Get your trust on board GAP
If your trust hasn’t yet introduced GAP, email your Head Of Midwifery a link to this web page and encourage them to call The Perinatal Institute on 0121 607 0101 to find out how to enrol on the GAP programme. We have put together an example letter to assist you. NHS England encourage all trusts to sign up:
Detect to protect
Whilst your maternity team is waiting for GAP training, you can watch our mini video on how to accurately measure symphysis fundal height to help detect babies who are growth restricted:
Support Made to Measure
If your baby was effected by IUGR, we would love to add you to our list of case studies for media requests so please email us a summary of your experience to firstname.lastname@example.org.
If you would like to get involved as a campaign ambassador, please email us so we can update you on opportunities in your area. Please include which town and the constituency you live in. We look forward to hearing from you.
Thank you for supporting our Made To Measure campaign to save babies lives.
A very special thank you to The Perinatal Institute for the incredible work they do.