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The objective of the heel prick test is to detect certain serious diseases at birth. Most of these conditions are rare, and genetic in origin. It means early and appropriate treatment can be provided in order to prevent sequelae and ensure a better quality of life for the newborn.

The objective of the heel prick test is to detect certain serious diseases at birth. Most of these conditions are rare, and genetic in origin. It means early and appropriate treatment can be provided in order to prevent sequelae and ensure a better quality of life for the newborn. These very rare genetic and/or endocrine disorders may be present at birth, even if the baby does not present any symptoms.

What does it consist of?

The neonatal metabolic screening programme, better known as the “heel prick”, is a blood test that is carried out on all newborns. It can be used to detect 24 diseases in which rapid action can change the prognosis. The diseases included in the programme are: 

  • Congenital hypothyroidism. 
  • Cystic fibrosis. 
  • Phenylketonuria. 
  • 5 further amino acid metabolism disorders. 
  • 8 organic acid metabolism disorders. 
  • 6 fatty acid metabolism disorders. 
  • Sickle cell disease. 
  • Severe combined immunodeficiency. 

Screening can also detect healthy children who have a genetic alteration related to a condition, but who will not develop the disease itself. They are known as carriers. Diseases that are not part of the programme may also be diagnosed. In this case, the same procedure is followed as for other diseases. 

What is it used for?

The diseases included in the programme have a treatment that, when given early, can prevent or reduce the symptoms and injuries that would result without appropriate action. 

How is it done?

A superficial prick is made on the baby's heel. The puncture has to be made in the most lateral portion of the plantar surface of the heel. A few drops of blood are extracted and used to cover approved absorbent paper on both sides. This paper is sent to the laboratory for analysis. Along with taking the blood, data on the family and the newborn are collected on a form that will later be used to send the results obtained and contact the parents, if necessary. The ideal time to do this is 48 hours after birth, at the hospital where the baby was born. 

How long does it take?

Performing the test only takes a few minutes, and the results will be received approximately three weeks later. In most cases the test results are normal. In the event that an abnormality is detected, medical professionals will contact the family.

How to prepare?

Nursing staff prepare the material necessary for the test (sterile gauze, antiseptic, capillary, specific incision device or lancet, dummy and sucrose). The specific incision devices used for the heel prick test outline an arc where the puncture is made. Delicate incision produces less pain, less bruising, facilitates healing and provides the necessary quantity of blood, thus reducing the number of repetitions.  

The baby's foot is placed below the height of the heart to increase venous flow.   

A gentle massage is given, and it is verified that the baby is at a comfortable temperature.  

Hygienic hand washing is performed prior to putting gloves on, and then the baby's heel is pricked. Using gauze soaked in 2% aqueous chlorhexidine or alcoholic chlorhexidine and allowing it to fully air dry is recommended.  

The heel must be perfectly dry before performing the test, as any residue may alter the results. 

The surface on which the paper is left to dry must be clean, dry and at room temperature. Exposure to sunlight or heat sources should be avoided. Soaking the paper with the blood must be done with the necessary precautions to ensure that the practitioner's skin does not come into contact with the filter paper circles, as this could alter the analytical results. Therefore, using gloves is recommended.  

Situations requiring special attention

This test is contraindicated in infants where both heels are oedematous, injured or infected. In certain circumstances, the heel cannot be accessed for sampling. When heel prick testing is contraindicated or not possible due to local heel problems, venous blood sampling is recommended.  

In premature newborns and/or babies admitted to the ICU, the risks and benefits of making the heel incision, or taking an arterial/venous blood sample if they have an umbilical catheter, can be evaluated. A venous puncture can be used to perform another analysis.  

In newborns who require a blood transfusion, the test should be performed prior to transfusion whenever possible, even within the first 48 hours of the baby’s life. The test should be repeated where appropriate, according to the type of transfusion. 

Who will perform the test?

It is performed by nursing staff at the health centre where the baby was born.  

What will the baby feel during the test?

Prevention and treatment of pain must be considered an essential right for babies. Some studies suggest that the presence of the mother (holding the child with skin-to-skin contact or breastfeeding during the process) can mean that the infant shows less distress. 

If the parents are not present at the time of the procedure, sucking a dummy can reduce pain scale scores. The maximum effect is achieved when breast milk or sucrose administration is used in conjunction with suckling and restraint (keeping the baby in a flexed position with the limbs close to the torso, towards the midline). Babies who are held like this during the procedure recover their basal heart rate more quickly, and express less pain. 

Possible sequelae for the newborn include residual pain and a small bruise around the puncture site, which disappears after a few days. 

Substantiated information by:

Olga Coronel
Rocío Cortés

Published: 16 April 2021
Updated: 16 April 2021

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