What is a heel stick test?

The heel stick test is done on all newborns.
The heel stick test is done on all newborns.

The heel-stick test is a simple method to collect a newborn baby’s blood by pricking their heel to screen for certain diseases. It is usually performed as soon as possible after the baby’s birth.

During this test, a small amount of blood is collected with a capillary or on a filter paper. It is also called a newborn blood spot test.

The blood collected through this tiny heel prick can reveal around 50 rare illnesses, but also potentially life-threatening or crippling illnesses such as

  • Phenylketonuria (PKU): PKU is present in 1 in 10,000-15,000 newborns. It is a rare amino acid disorder (disorder of acids that are the building blocks of protein). Newborns with PKU appear perfectly healthy at first. However, if their condition isn’t treated soon after birth by changing their milk supply, the baby may experience serious health issues such as developmental delays, brain damage and even death.
  • Primary congenital hypothyroidism: This is a disorder in which your baby’s body does not produce enough thyroid (neck gland) hormones. It may cause developmental delays and slow growth.
  • Maple syrup urine disease: This is an amino acid disorder that can lead to developmental delays. The baby may have sweet-smelling urine, lethargy, vomiting and poor feeding habits due to nausea. If left untreated, they can develop a seizure. It can eventually be fatal.
  • Cystic fibrosis: This illness affects the mucus glands and makes mucus thick and sticky and disturbs functions of organs including the lungs, liver and intestines. It may hinder a baby’s growth. There is no cure for this condition, but it can be managed well and the child can live a longer and healthier life.
  • Sickle cell anemia: This condition may cause anemia (low red blood cells), fatigue, pain, organ damage and death.
  • Medium-chain acyl-coA dehydrogenase deficiency (MCADD): This is a hereditary disorder caused by a low medium-chain acyl-coenzyme A dehydrogenase enzyme.
  • Isovaleric acidemia (IVA): This is a rare, serious, inherited disease condition, in which the body can't process the amino acid leucine.
  • Glutaric aciduria type 1 (GA1): This is a rare but serious inherited condition in which the body can't process certain amino acids.
  • Homocystinuria (pyridoxine unresponsive) (HCU): This is an inherited disorder of the metabolism of the amino acid methionine that may cause brain damage and developmental problems in the child.

Finding these early may allow the best chance for your baby to grow and thrive. Early treatment of these disorders, including changes in the diet, may prevent the disease from progressing further.

What is the appropriate age for a heel-stick test?

When a live birth occurs in a hospital or birthing center, the doctor collects the infant’s blood before discharge. The infant’s blood is collected 24 hours following birth and no later than when the infant is one week old. If the infant born in a hospital or birthing center is discharged before 48 hours after birth, a blood specimen shall be collected prior to discharge. In this case, the newborn must be tested again prior to one week of age. In case of home birthing, it is the mid-wife’s duty to get the blood sample 24 hours after the birth. If the doctor feels the first testing was in any way inadequate or improper, they may ask for a repeat test.

How can heel stick test safety be assessed?

It is safe to perform a heel-stick test on a baby’s inner or outer side of the sole of the foot, on the darker areas. The heel of the newborn is not used because it may damage the heel bone.

Due to the special technical requirement of this test, it is better to have trained staff that performs this test frequently. 

What are the risks?

  • Bruising
  • Swelling
  • Redness
  • Damage to the heel bone and soft tissues of the foot
  • Difficulties walking later in life (rare)

QUESTION

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Medically Reviewed on 11/12/2020
References
Medscape Medical Reference

American Association for Clinical Chemistry


NHS


Public Health England


Cleveland Clinic


Standford Children's Health