Boots WebMD Partners in Health
Return To Boots

Newborn & baby health centre

New genetic tests for newborns

WebMD UK Health News
Medically Reviewed by Dr Rob Hicks
newborn baby with attached id tag

5th January 2015 – Already, in the first days of life, babies have a heel-prick blood test to screen for rare genetic disorders. From today in England, newborns will be screened for four additional rare conditions.

In a press release public health minister Jane Ellison says: "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."

About half of England is already carrying out the tests following successful pilot programmes, the other half will begin screening this month. It's estimated the extra screening has the potential to benefit around 30 children in England each year. Wales will begin screening early this year but the remaining UK nations haven't yet decided whether to introduce screening for the four extra conditions.

Heel-prick test

The existing heel-prick blood test is carried out when a newborn baby is around 5 to 8 days old.

This sample is already used to test for five conditions:

From today in England, using the same heel-prick blood test, babies will be screened for four extra rare conditions, all of which prevent the breakdown of amino acids contained in protein. When the levels of these amino acids get very high, they can be very harmful.

The four additional conditions being screened for are:

  • Homocystinuria (HCU)
  • Maple syrup urine disease (MSUD)
  • Glutaric aciduria type 1 (GA1)
  • Isovaleric acidaemia (IVA)

Babies with these disorders may show symptoms within days of birth or, without testing, may not be diagnosed for months leading in some cases to irreversible damage.

Early detection

Dr Anne Mackie, director of programmes for the NHS Screening Programmes, part of Public Health England, says in a prepared statement: "The early identification of these conditions can prevent death and significantly improve the quality of life for those living with these conditions."

Sixteen-month old Phoenix Thompson from Lincolnshire was diagnosed with GA1 through the pilot programme at Sheffield Children’s Hospital. His mother, Michelle Thompson, says in a press statement: "It is unexplainable how important the screening was for us. It means Phoenix can receive the care and treatment he needs. It doesn’t bear thinking about what would have happened if the condition wasn’t picked up early."

Reviewed on January 05, 2015

Children's health newsletter

Tips to inspire healthy habits
Sign Up Now!

Popular slideshows & tools on BootsWebMD

man holding back
Myths & facts about back pain
hands grabbing knee
How to keep your joints healthy
bowl of soup
Small changes that lead to weight loss
cute baby
Simple tips to keep baby's skin healthy
cute dog
10 common allergy triggers
Do you know what causes hair loss?
woman exercising
Exercises for low back pain
sperm and egg
Facts to help you get pregnant
bucket with cleaning supplies in it
Cleaning for a healthy home
rash on skin
Soothe skin and prevent flare-ups
mother and child
Could your baby be allergic to milk?
pregnant woman eating healthy salad
Nutrition needs before pregnancy