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What is the “heel prick test” and why is it done?
Pregnancy

What is the “heel prick test” and why is it done?

3 min readWeek 41
Key takeaways
3 min
  • Understand that the heel prick test screens newborns for rare but serious genetic disorders like cystic fibrosis, PKU, and congenital hypothyroidism within 5 days of birth.
  • Prepare to comfort your baby during the test by cuddling, feeding, and keeping them warm as the procedure involves a small prick to collect blood drops.
  • Expect results timing to vary by hospital, with many facilities only contacting parents if abnormal results are found rather than for negative screenings.
  • Know that preterm babies may receive the test later than 5 days, and sometimes a second sample may be required for accurate screening results.

The heel prick test is a newborn screening performed within 5 days of birth to detect rare genetic disorders like cystic fibrosis, PKU, and congenital hypothyroidism. Early detection enables timely treatment and better health outcomes for babies.

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Naturally when a baby is born their parents want to do everything possible to keep them safe, healthy, and well. Alongside vaccinations, the doctor or nurse at the hospital or health facility is likely to perform a heel prick test on the newborn baby as part of their first check-up.

The heel prick test (also known as the blood spot test) is a test given to babies when they are born. The test assesses whether the newborn has any health conditions requiring medical attention.

Part of this process will involve drawing blood from the baby's heel. This test can diagnose several rare genetic disorders that can be managed if detected through early screening [1].

How and when is this blood test performed?

Typically, your doctor or nurse will prick the baby's heel and squeeze out a few drops of blood onto a special card. Most hospitals do this within five days of birth, but preterm babies may have this test performed later [2].

What disorders does the test screen for?

The list of disorders includes rare hereditary conditions that are nevertheless important to catch early for effective treatment [1, 3]. They include:

  • Cystic fibrosis, a disorder involving the secretion of fluids, most commonly affecting the lungs;

  • Galactosemia, an inability to metabolize galactose leading to liver and kidney dysfunction, cognitive disorders, and cataracts;

  • Congenital hypothyroidism, which affects growth and puberty;

  • Phenylketonuria (PKU), phenylalanine amino acid buildup which can lead to intellectual disability, cognitive and behavioral disorders, and seizures;

  • Androgenital syndrome, which precipitates disorders related to the imbalance of hormones synthesized and produced in the adrenal cortex.

While these disorders are rare, they are also very serious, therefore early detection can help provide timely treatment and lessen the severity.

How long does it take to get results?

It varies, so talk to your doctor. In many cases, if the blood sample tests negative for all disorders, you may not get results back at all. In the meantime, remember that the conditions listed above are very rare.

How can I comfort my baby during this test?

This is a test all babies go through, so although the slight prick may feel uncomfortable for the baby it will not cause any harm. You can soothe your baby during the test by cuddling and feeding them and making sure they're warm and comfortable.

Occasionally, the sample may need to be taken when your baby is older than 5 days for example on days 6, 7, or 8. Sometimes a second blood spot sample is needed. If this happens, the reason for a second sample will be explained to you.

This article was created in association with UNFPA, the United Nations sexual and reproductive health agency.


Frequently asked questions

The heel prick test is typically performed within the first 5 days after birth. However, preterm babies may have the test done later, and sometimes it's performed on days 6-8 if needed.

The test screens for rare genetic disorders including cystic fibrosis, phenylketonuria (PKU), congenital hypothyroidism, galactosemia, and androgenital syndrome. Early detection allows for timely treatment and better health outcomes.

Results timing varies by hospital and location. Many facilities only contact parents if abnormal results are found, meaning no news is typically good news.

The test involves a small prick that may feel uncomfortable but won't harm your baby. You can comfort them by cuddling, feeding, and keeping them warm during the procedure.

This screening test identifies serious genetic conditions that require early treatment. While these disorders are rare, early detection can prevent severe complications and improve your baby's long-term health outcomes.

Medical Disclaimer

This article is for informational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or qualified health provider with any questions you may have regarding a medical condition.

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Medically reviewed content

Reviewed by healthcare professionals · Updated November 13, 2024

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