Newborn Bloodspot Screening Wales

Information for Parents

What is newborn bloodspot screening?

Newborn bloodspot screening is when a small sample of blood is taken from the baby’s heel, on day five of the baby’s life. This blood sample is screened for rare but serious diseases that can cause serious illness or even death if not treated early.  The screening test is carried out by a midwife and is part of routine postnatal care.

What is the aim of the newborn bloodspot screening programme in Wales?

The aim is to offer all eligible babies screening for rare but serious diseases that would benefit from early intervention and reduce mortality and or morbidity from the disease.

What are newborn babies screened for?

In Wales all babies are offered screening for the following conditions:

  • Inherited metabolic disorders
  • Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
  • Phenylketonuria (PKU)
  • Maple syrup urine disease (MSUD)
  • Isovaleric acidaemia (IVA)
  • Glutaric aciduria type 1 (GA1)
  • Homocystinuria (HCU)
  • Congenital hypothyroidism (CHT)
  • Cystic fibrosis (CF)
  • Sickle cell disorders (SCD)

Screening for all of the conditions is recommended by the UK National Screening Committee.

The Test

Who will take the bloodspot sample?

Newborn bloodspot screening is carried out five days after your baby’s birth. Occasionally this may be later than five days. The sample is usually taken by the midwife in your home, or in the hospital.

Other health professionals, who have been trained to carry out newborn bloodspot screening, may take the sample.

How will the bloodspot sample be taken?

The midwife will prick your baby’s heel using a special device to collect four drops of blood onto a newborn bloodspot screening card. Collecting these bloodspots usually takes a few minutes. The card is sent to the Newborn Screening Laboratory in Cardiff for testing. The midwife will write your baby’s details on the card to identify them.

 The heel prick may be uncomfortable and your baby may cry.

You can help by:

  • making sure your baby is warm and comfortable, and
  • cuddling your baby and giving them a feed.

Are repeat blood samples ever needed?

Occasionally the midwife or health visitor will contact you and ask to take a second blood sample from your baby’s heel.

 This may be because:

  • there was not enough blood collected
  • the information recorded on the blood spot card was incomplete
  • the result was unclear
  • your baby was born early, or your baby had a blood transfusion before the test.

Your midwife or health visitor will explain the reason to you. It is important that if a repeat test is needed, it is done promptly so that all the tests have been completed within the early weeks of life.

Parent Stories

Two families whose babies have had newborn bloodspot screening share their experiences.

Isovaleric Acidaemia - A Parents Perspective - Dawn and Shane talk about their son who has isovaleric acidaemia (IVA), how they manage his condition and what they think about newborn bloodspot screening.

Cystic Fibrosis - A Parents Perspective - Kelsey talks about how her daughter Eva was identified as having cystic fibrosis (CF) following newborn bloodspot screening.

 

 

 

Babies with these rare inherited disorders cannot process certain substances in their food. Without treatment, babies with these disorders will have serious long-term health problems and for some of the disorders babies can become suddenly and seriously ill.

Newborn screening means that babies who have one of these disorders can be identified early and have the right diet and treatment and specialist care to prevent health problems from developing.

It is very important to let your healthcare professional know if you have a family history of any of these metabolic disorders.

Babies are offered screening for the following six inherited metabolic disorders (IMDs):

  • Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)

Babies with MCADD have problems breaking down fats to make energy for their body. If babies are not screened and have this disorder, the diagnosis may only be made when they become suddenly and seriously unwell. Three or four babies in Wales are born with MCADD each year.

  • Phenylketonuria (PKU)

Babies with PKU cannot break down an amino acid called phenylalanine. Amino acids are ‘building blocks’ of protein and we get protein from certain foods. If untreated, babies with PKU will develop a serious permanent mental disability. Newborn screening means that babies can be identified and treated with a special diet to prevent this disability.

Three or four babies in Wales are born with PKU each year.

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

Babies with MSUD, IVA, GA1 or HCU cannot break down certain amino acids that are contained in the protein we eat, in the usual way. This leads to harmful levels of certain amino acids and other harmful chemicals in the blood. These are rare disorders and it is expected that one or two babies in Wales will be born with one of these disorders each year.

Babies with congenital hypothyroidism do not have enough of the hormone thyroxine. Without this hormone, they do not grow properly and can develop a serious, permanent, physical and mental disability.
 
Approximately 18 babies in Wales are born with CHT each year.
 
Newborn bloodspot screening means that babies with CHT can be identified and treated early with thyroxine tablets. This treatment will prevent serious disability and allow the baby to develop normally. If babies are not screened and are later found to have CHT, it may be too late to prevent them becoming seriously disabled.

This inherited condition affects digestion and the ability of the lungs to work properly. Babies with CF have problems digesting food and may not gain weight well. They are also more likely to have frequent chest infections.
 
Between 12 and 14 babies in Wales are born with CF each year.
 
Newborn bloodspot screening means that babies with CF can be identified and treated early with a high-energy diet, medicines and physiotherapy. Early treatment is thought to help children with CF live longer, healthier lives. If babies are not screened for CF and they do have the condition, they can be tested later, but parents may have an anxious and uncertain time before CF is diagnosed.

These are inherited disorders that affect the red blood cells. If a baby has a sickle cell disorder, their red blood cells can change to a sickle shape and become stuck in the small blood vessels. This causes pain and damage to the baby’s body, serious infection, or even death.

 

Three or four babies in Wales are born with a sickle cell disorder each year.

 

Newborn bloodspot screening means that babies with SCD can be identified, and receive early treatment, including immunisations and antibiotics. This, along with information and support for parents, will help prevent serious illness and allow the child to live a longer and healthier life.

Click here for Newborn Bloodspot Screening Wales website where you can find additional information and information in easy read and listening text.

Improving the physical and emotional health and wellbeing of expectant mothers, infants, children and young people throughout Aneurin Bevan University Health Board Area.

(N.B: The Family and Therapies team at ABUHB is NOT responsible for the content on the webpage links that we refer to in our resource sections and linked information to external sites. All information was accurate and appropriate at the time the webpage was created.)

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