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Newborn Screening Test

Last Updated: March 3, 2022
HealthLinkBC File Number: 67
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Why is my baby screened?

A small spot of your baby’s blood can be used to get important information about their health. A newborn baby can look healthy but have a rare and serious disorder that you and your doctor or midwife may not know about. Newborn screening finds babies who may have one of these rare disorders. Finding and treating these disorders early prevents or reduces serious health problems. If not treated, many of these disorders can cause severe developmental delay, other health problems and even sudden infant death.

In B.C., there are about 55 babies born each year (1 out of every 1000) who have one of these disorders.

What will my baby be tested for?

Your baby will be tested for 24 rare but treatable disorders. The 24 disorders fall into 4 categories:

  • Metabolic disorders
  • Endocrine (hormone) disorders
  • Blood disorders and
  • Cystic Fibrosis

For more information on these tests, visit Perinatal Services BC www.newbornscreeningbc.ca.

How is my baby screened?

A small blood sample (a few drops of blood) is taken by a simple heel prick, usually before discharge from hospital. This will only cause a moment of discomfort for your baby. The blood sample is sent to the provincial newborn screening laboratory at BC Children’s Hospital for testing. Cord blood should not be used as it could be contaminated with the birthing parent’s blood.

How soon after birth will my baby be tested?

The ideal time to collect the newborn screening blood sample is between 24 and 48 hours after birth.

If you are under the care of a midwife and your baby is not born in the hospital, your midwife will collect the blood sample during a home visit.

What if I go home with my baby less than 24 hours after birth?

A blood sample will still be taken in the hospital before leaving. Screening detects over 80% of disorders at even less than 24 hours of age. Early detection is important if your child has one of these disorders. You will get instructions on how to have the sample repeated within 2 weeks. The purpose of the second sample is to double check the few disorders that can be missed on the first (early) screen.

Can I wait and have my baby tested later?

The earlier these treatable disorders are found, the better the outcome for babies with these disorders. It is strongly advised that your baby have a blood sample taken before leaving the hospital. If you decide you do not want your baby to have a blood sample taken before they leave the hospital, you will be asked to sign a form. This form shows you understand the reasons for the test and the possible outcomes for your baby if your baby is tested too late or not at all and has one of these disorders.

How do I find out the results of the screening?

Your baby’s screening results are reported to your baby’s doctor or midwife.

What does it mean if the screen is negative?

A negative screening test result means that the chance your baby has one of the 24 disorders is very low. It is rare that the test does not pick up these disorders in a baby.

What does it mean if the screen is positive and what happens next?

A positive screen does not mean that your baby has one of the disorders, but it is possible. Your baby will need more testing and follow up to find out for sure. The type of follow up testing will depend on the disorders being investigated and can include more bloodwork.

If your baby has one of these disorders, early detection will help your baby get effective treatment as soon as possible. You will be referred to a doctor with experience in treating these disorders.

What happens to my baby’s blood sample (blood spot card) when the testing is complete?

The BC Newborn Screening Program keeps your baby’s blood spot card with the leftover blood sample for 10 years. The card is kept in a secure location. Occasionally, the dried blood spot samples may be used for other purposes after the testing is finished. These include:

  • Re-running a test if the first test result was not clear
  • Trying to find the reason for a health condition that has developed later in a child’s life or trying to find the cause of an unexplained illness or death of a child
  • Checking the quality of testing done by the laboratory to make sure that results are accurate
  • Developing better or new tests for screening of disorders

Samples may also be used for health research if the research has been approved by a Clinical Research Ethics Board. In these cases, all information that may identify the baby is removed.

If you do not want your baby's stored blood spot card to be used for these purposes, you can fill out a form called a “Directive to Destroy Leftover Newborn Screening Blood samples” and send it to the BC Newborn Screening Program. Visit www.newbornscreeningbc.ca for details.