Newborn Bloodspot Screening

Newborn Bloodspot Screening

Newborn Bloodspot Screening. Why should I have my baby screened?

The National Newborn Bloodspot Screening Programme identifies babies who may have rare but serious inherited conditions, which are treatable if detected early in life. Most babies born in Ireland will not have any of these conditions. However, for the very small numbers who do, the benefits of early detection by screening and treatment are enormous. Early treatment can improve their health and prevent severe disability or even death. The screening test is offered to all parents when the baby is about 4 days old.

What are newborn babies screened for?

All babies born in Ireland are offered screening for:     Untitled design (4)

Phenylketonuria (PKU),

Maple Syrup Urine Disease,


Classical Galactosaemia,

Cystic Fibrosis,

Congenital hypothyroidism.

All these conditions are inherited from both parents – both parents must carry the affected gene and they have a 1:4 risk of having an affected child. The parents, called carriers, are entirely normal and will not normally know that they carry an affected gene. Most cases of congenital hypothyroidism occur spontaneously but in about 1:10 cases it is inherited form the parents.


Approximately one in every 4,500 infants born in Ireland will have phenylketonuria (PKU) or a milder form of hyperphenylalaninaemia. This is an inherited disorder, both parents must carry one defective gene and they then have a 1:4 chance of having an affected child. Approximately 1:35 individuals in Ireland carry one affected gene. When diagnosed within the newborn period and started on treatment these infants grow up healthy and well. However, without treatment this condition may cause severe mental handicap in some affected individuals.

The condition is caused by a lack of the enzyme, which normally converts an amino acid phenylalanine (a building block for protein) into tyrosine. In its absence phenylalanine accumulates and high levels may have a direct toxic effect on the brain.

Early treatment is beneficial and aims at giving a low intake of phenylalanine but a normal intake of all the other amino acid. This diet has to be continued for life.

Maple Syrup Urine Disease (MSUD)

Maple syrup Urine Disease (MSUD) gets its name because the urine and the wax in the ears smell of maple syrup. Approximately 1 in every 125,000 infants born in Ireland may have this condition or about 1 infant every 2 years. Like PKU, it too is a condition inherited from both parents. It is a life threatening if it is not detected and treated early. Treatment is with a diet similar to that for PKU but wilt low levels of the offending amino acids, treatment is started as soon as the diagnosis is made. Normal brain development and good health result from early treatment and life -long adherence to the diet is necessary.

Some variant forms of MSUD may not be detectable in the newborn period and may present later in life.


Approximately 1 in every 65,000 infants born in Ireland may have the condition or one born every year. Like the other 2 conditions, Homocystinuria results from the accumulation in blood of the essential amino acid, a building block for protein. Individuals with the disorder may present with a variety of symptoms in later life, including eye complications, impaired brain development, disorders of the bone, blood clots and possible strokes. Again the treatment is similar to that for PKU and for those individuals who stick to a diet for life, the risks of developing any of the complications is greatly reduced. 

This is one of the more difficult conditions to screen for and not all infants with this condition will be detected by screening, approximately 1 in every 5 infants born with this condition may not be detected.


Classical Galactosaemia

Classical galactosaemia is an inherited condition due to a failure of the body to be able to break down galactose, one of the 2 sugars that make up lactose in human and cow’s milk. It is not an allergy to lactose or milk. Approximately 1 in every 19,000 infants born in Ireland may have this condition. However, it is particularly common among infants born to Traveller parents – the incidence in these infants is approximately 1 in 450 births. Consequently in the non-traveller Irish community the condition may occur in about 1 in every 36,000 births.

If not detected and treated during infancy the disorder may cause damage to the liver and may occasionally be life threatening. Early detection and treatment with a galactose free diet will prevent the early clinical symptoms of the disorder, some of the long term complications may still occur in older children and adults despite treatment.

Because the condition is relatively common in infants born to Traveller parents, a special screening test is offered to all these infants at birth (Day 1 of life). They are advised not to breast feed but will be offered a galactose free feed (Soya based) until the result of the test is available.  This protects the infant should he/she have the condition. For those mothers wishing to breast feed, they should discuss this with their midwife – they can express their milk until the result of the test is available.  


Cystic Fibrosis (CF)

Approximately 1 in every 1,500 infants born in Ireland may have Cystic Fibrosis (CF). CF is also an inherited condition, both parents carry an abnormal CF gene. As a consequence of the condition thick mucous secretions are produced by a number of organs in the body including the lungs and the pancreas and it is this thick mucous secretion that causes the problems. The thick secretions in the lungs may become infected causing ultimately damage and in the pancreas causing digestive problems. Consequently infants with CF may not gain weight well and have frequent chest infections.

Newborn screening means that infants with CF are identified earlier, they can be started on treatment with a high energy diet to improve weight gain and medicines and physiotherapy to improve lung function. Although a child with CF may still become ill, early treatment does improve their quality of life, significantly reduces the time they have to spend in hospital and they live healthier and longer lives.

As with the other conditions included in the screening programme, not all infants with CF will be detected by the newborn screening programme, particularly those with a relatively mild form.


Congenital Hypothyroidism

Approximately 1 in every 3,500 infants born in Ireland may have this condition early detection allows early treatment and prevention of the onset of symptoms. Unlike all the other conditions, in only a small number of cases is the condition inherited from the parents, for the majority the condition just occurs and there is a failure of the body to produce a normal thyroid gland in the neck.

The majority of infants with congenital hypothyroidism require treatment, in the form of tablets. Some will be reviewed at about 2 years of age at which time a smaller number may be able to discontinue treatment under medical supervision. Otherwise treatment is for life and the dose of medication will be adjusted as the infant grows.

How do I agree to screening for my baby?

When your baby is due to have the heel prick test you will be given information and asked to sign the newborn screening card to confirm that you have received information about the programme, that the information about your baby is correct and that you consent to the test being done.

Screening your baby for all these conditions is strongly recommended. If your baby has one of the conditions the long term benefit of screening is much greater than the small discomfort they feel when the blood sample is taken. However, you do not have to do it, it is not compulsory. If you are considering opting out please discuss your reasons with your health professional. Your decisions will be recorded and you will be asked to sign an opt-out form.

How is the test done?

The newborn blood spot screening test is done between 72 hours and 120 hours after your baby is born. Your public health nurse or midwife will prick your baby’s heel using a special device to collect some drops of blood onto a special card. You can help by:

Making sure your baby is warm and comfortable

Being ready to feed or cuddle your baby

When the sample is collected, the newborn screening card is sent to the National Newborn Bloodspot Screening Laboratory at the Children’s University Hospital in Temple Street for testing.

Beutler Test

Some babies have a higher risk of having Classical Galactosaemia than others, especially if someone in their family already has the condition or they are babies of Traveller parents. These babies are screened using a specialist test called the Beutler test, which is done at birth. If your baby is having the Beutler test, you will be asked to use soya based formula milk until the results are known.

Are repeat blood tests needed?

Occasionally, the public health nurse or midwife will contact you and ask to take a second blood sample from your baby’s heel. This may be because they did not collect enough blood or the test result was not clear. Usually the repeat results are normal.

How will I hear about the result?

Most babies will have normal test results. However, if the test results do suggest that your baby might have one of the conditions, you will be contacted by a nurse or doctor, the time interval will range within five to seven days of the test or possibly up to four weeks depending on the condition. The Newborn Blood Spot Screening Test is used to identify babies more likely to have these conditions, but it is not 100% accurate. Your baby will need to have more tests to confirm the result and may need to stay in hospital for a short time.

If the test results show that your baby does not have any of the conditions you will not be contacted directly from a midwife from the maternity unit or the public health nurse. However, you can ask your public health nurse for the results at your baby’s three month health check.

What happens if my baby has one of these conditions?

If your baby has one of theses rare conditions you will be referred to a specialist centre. This will depend on the condition identified. For most conditions your child will be referred to the Children’s University Hospital Temple St. Dublin, but for those suspected of having Cystic Fibrosis will be referred to a hospital in Dublin, Cork, Limerick or Galwy. A team of specialist health professionals will work with you to manage your baby’s condition. The team may include doctors, nurses, dieticians and physiotherapists.

Most babies with these conditions will grow healthy and well, once they start getting treatment. The purpose of screening is to identify babies more likely to have these conditions but is not 100% accurate.

What happens to my baby’s Newborn Screening card after screening?

The card is stored as part of your baby’s health record for 10 years by the National Newborn Screening Laboratory on behalf of the HSE. The card is then disposed of.

Following screening a blood spot may be used for:

Checking the results of the test or for other tests recommended by a doctor for whom permission will be sought from the parents.

Quality assurance purposes and to develop and improve the bloodspot screening programme as governed by a HSE’s Code of Practice.

Parents may if they wish request that the blood portion of the Newborn Screening card be disposed of 1 year after the test has been performed.

They can do this by writing the National Newborn Bloodspot Screening Laboratory, Children’s University Hospital, Temple Street, Dublin 1, stating the name of their child at birth, the date of birth, and the name of the birth hospital. They must also provide proof of identity to include a copy of their passport or driving licence, a copy of the child’s birth certificate and a recent utility bill.

Archived screening cards from babies born from 1984 onwards are currently stored by the Newborn Bloodspot Screening Programme. The HSE is currently carrying out a review of storage and disposal policy for archived screening cards in consultation with the Department of Health, the Data Protection Commissioner and Patient and Clinical representative groups.

Where can I get more information?

Newborn Bloodspot Screening from your Public Health Nurse, Midwife or HSE website.

If you are pregnant or planning to become pregnant, and someone in your family has one of these conditions, or you think that you have a high risk of having a baby with one of theses conditions then you can ask your GP to refer you to The National Centre for Medical Genetics,

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