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Introducing newborn blood spot screening for parents

The answers to some of your questions:

• Why should I have my baby screened?
• What are newborn babies screened for?
• What is phenylketonuria?
• What is congenital hypothyroidism?
• What is sickle cell disease?
• What is cystic fibrosis?
• What is MCADD?
• Will screening for these conditions show up anything else?
• How will the midwife take the blood spots?
• Are repeat blood samples ever needed?
• Why is screening recommended?
• How will I hear about the results?
• What happens to your baby's blood spots after screening?
• Why do we need a newborn screening programme?
• Information for parents and resources for health professionals

Why should I have my baby screened?

Newborn blood spot screening identifies babies who may have rare but serious conditions.

Most babies screened will not have any of the conditions but, for the small number that do, the benefits of screening are enormous. Early treatment can improve their health and prevent severe disability or even death.

What are newborn babies screened for?

All babies in England are screened for phenylketonuria, congenital hypothyroidism, sickle cell disorders, cystic fibrosis and MCADD. In some areas babies are also screened for some other conditions. If you want to confirm which conditions are screened for in your area, please ask your midwife.

What is phenylketonuria?

About 1 in 10,000 babies born in the UK has phenylketonuria (PKU). Babies with this inherited condition are unable to process a substance in their food called phenylalanine. If untreated, they will develop serious, irreversible, mental disability. Screening means that babies with the condition can be treated early through a special diet, which will prevent severe disability and allow them to lead a normal life. If babies are not screened, but are later found to have PKU, it may be too late for the special diet to make a real difference.

What is congenital hypothyroidism?

About 1 in 4,000 babies born in the UK has congenital hypothyroidism (CHT). Babies with CHT do not have enough of the hormone thyroxine. Without this hormone, they do not grow properly and can develop serious, permanent, physical and mental disability. Screening means that babies with CHT can be treated early with thyroxine tablets, which will prevent serious disability and allow them 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.

What is sickle cell disease?

About 1 in 1,900 babies born in the UK has a sickle cell disease (SCD). These are inherited disorders that affect the red blood cells. If a baby has a sickle cell disease, their red blood cells can change to a sickle shape and become stuck in the small blood vessels. This can cause pain and damage to the baby’s body, serious infection, or even death. Screening means that babies with SCD can receive early treatment, including immunisations and antibiotics, which, along with parent education, will help prevent serious illness and allow the child to live a healthier life.

What is cystic fibrosis?

About 1 in 2,500 babies born in the UK has cystic fibrosis (CF). This inherited condition can affect the digestion and lungs. Babies with CF may not gain weight well, and have frequent chest infections. Screening means that babies with CF can be treated early with a high energy diet, medicines and physiotherapy. Although a child with CF may still become very ill, early treatment is thought to help them 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 time before CF is recognised.

What is MCADD (medium-chain acyl-CoA dehydrogenase deficiency)?

About 1 in 10,000 babies born in the UK has MCADD. Babies with this inherited condition have problems breaking down fats to make energy for the body. This can lead to serious illness, or even death. Screening means that most babies who have MCADD can be recognised early, allowing special attention to be given to their diet, including making sure they eat regularly. This care can prevent serious illness and allow babies with MCADD to develop normally. Screening babies for MCADD is important because it enables those with the condition to be identified before they become suddenly and seriously ill.

Will screening for these conditions show up anything else?

Screening for cystic fibrosis (CF) includes testing some babies for the most common gene alterations that cause CF. This means screening may identify some babies who are likely to be genetic carriers of cystic fibrosis. These babies may need further testing to find out if they are a healthy carrier, or have CF. Screening identifies babies who are genetic carriers of sickle cell or other unusual red blood cell disorders. Carriers of sickle cell disorders are healthy and will not be affected by the condition. Rarely, other conditions such as beta thalassaemia major can be identified. In this condition, the baby does not make enough red blood cells, and needs treatment for severe anaemia.

How will the midwife take the blood spots?

About a week after birth the midwife will prick your baby's heel using a special device to collect some drops of blood onto a card.The heel prick may be uncomfortable and your baby may cry. You can help by making sure that your baby is warm and comfortable and by being ready to feed and cuddle your baby.

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, or the result was unclear. Usually the repeat results are normal.

Why is screening is recommended?

Screening your baby for all these conditions is strongly recommended, but it is not compulsory. If you do not want your baby screened for any or all of these conditions, please discuss it with your midwife. All your decisions will be recorded in your notes. If you think your baby might not have been screened, speak to your midwife or GP.

How will I hear about the results?

Most babies will have normal results, indicating that they are not thought to have any of these conditions. A health professional will usually let parents know the screening result and record it in the baby’s personal child health record by the time the child is 6-8 weeks old.

• Some babies are found to be carriers. Their parents will usually be told by the time the child is 6-8 weeks old.
• If a baby is thought to have phenylketonuria (PKU), parents will be contacted before the baby is 3 weeks old and given an appointment to see a specialist.
• If a baby is thought to have congenital hypothyroidism (CHT), parents will be contacted before the baby is 3 weeks old and given an appointment to see a specialist.
• If a baby is thought to have cystic fibrosis (CF), parents will be contacted before the baby is 4 weeks old.
• If a baby is thought to have a sickle cell disorder (SCD), the parents will be contacted before the baby is 6 weeks old.
• If a baby is thought to have MCADD, parents will be contacted before the baby is 3 weeks old and given an appointment to see a specialist.

If a baby is thought to have one of the conditions, he or she will need further tests to confirm the result.

The purpose of screening is to identify babies more likely to have these conditions. Screening is not 100% accurate.

What happens to your baby's blood spots after screening?

After screening, newborn blood spots are stored for at least five years and may be used in a number of ways:

• To check the result or for other tests recommended by your doctor
• To improve the screening programme
• For public health monitoring and research to help improve the health of babies and their families in the UK. This will not identify your baby and you will not be contacted.

The use of these blood spots is governed by a Code of Practice, available from your midwife or on our website. In the future there is a small chance researchers may want to invite you or your child to take part in research linked to the blood spot programme. If you do not wish to receive invitations to take part in research please let your midwife know.

Why do we need a newborn screening programme?

The national newborn screening programme was introduced in 1969 for phenylketonuria (PKU) and in 1981 for congenital hypothyroidism (CHT). Today, newborn screening is one of the largest screening programmes in the UK and each year over 700,000 newborns are screened. The newborn blood spot screening programme has been, and remains, a very successful screening programme and the uptake of screening tests is high with local figures showing that more than 99% of the babies born each year are being screened.

The historical success of the blood spot screening programme has depended upon the diligence and dedication of many health professionals, particularly laboratory directors and midwives. This success has been despite an absence of performance indicators governing the overall programme. In light of the current and planned expansion of the programme, a more joined up approach to assuring its quality is now required. Greater collaboration between professionals undertaking key roles in screening is required to ensure that the expanding programme can be delivered to a high standard. To support this collaboration the UK Newborn Screening Programme Centre has developed clear policies to guide the programme and has set out a framework for its performance management.

Information for parents and resources for health professionals

Our work has included developing national policies and standards, and additional resources for parents and health professionals. This is available in 'Screening Information'. Resources for parents include the 'Blood spot screening for your newborn baby' leaflet and a range of 'condition is suspected' leaflets.

Need more information?

The information above will answer some of your questions. Please also visit our Frequently Asked Questions section for further information.