Early detection allows treatment that may prevent or greatly reduce these problems. In British Columbia there are about 40 babies born each year (1 out of every 1,000) who are found to have one of these rare disorders. Screening may also identify babies who are carriers for some of these disorders.
Download A Simple Blood Test Could Save Your Baby’s Life, (also available in Traditional Chinese, Simplified Chinese, Vietnamese, Korean and Punjabi) or read below for this information about screening, results and disorders:
Your baby’s heel is pricked and a few drops of blood are taken and put onto a special card. Your baby may cry, but taking the blood sample does not harm your baby. You can help your baby by holding and breastfeeding her or him while the blood is being taken. The blood sample is sent to the laboratory at BC Children’s Hospital for testing. The same blood sample is used to screen for all disorders.
How soon after birth will my baby be screened?The blood sample is usually taken between 24 - 48 hours after birth. This will be done before your baby leaves the hospital or, if a home birth, by your midwife at home. What if my baby goes home from hospital before 24 hours old?A blood sample will be taken in the hospital before leaving. Over 80% of disorders can be screened using this blood sample. You will be given 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 not leave the hospital without a blood sample being taken. If you decide you do not want your baby to have a blood sample taken before he or she leaves the hospital, you will be asked to sign a form to show you understand the reasons for the test and the possible outcome for your baby if your baby is not tested and has one of these disorders.If your baby is under the care of a Registered Midwife, the midwife may review options with you to have the blood sample drawn at home.
How do I find out the results of the screening?Your baby’s screening results are reported to the hospital where your baby was born. It is not often, but if the results show that further testing is needed, your doctor or midwife will be notified.
What does it mean if the screen is negative?A negative screen means that the chance that your baby has one of these disorders is very low. Very rarely, the test may miss a baby with one of these disorders.
What does it mean if the screen is positive and what happens next?A positive screen tells that there might be a problem. It does not mean that your baby has one of these disorders, but it is possible. More tests are needed.
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Which disorders are included in newborn screening?In British Columbia, babies are screened for 22 rare but treatable disorders.
Will screening for these disorders find anything else?Screening for sickle cell disease and cystic fibrosis may also tell if your baby is a carrier (also referred to as having a “trait”) for one of these disorders but does not have the disorder. Babies who are carriers are healthy and no more likely to get sick than any other baby. They do not need any special medical treatment. Traits will not change into a disease later on.
Find out what it means for your baby, yourself and your family if your baby is a carrier.What if the results show that my baby has one of the disorders after all the tests are done?Your baby will need treatment from a doctor who specializes in the disorder. You will be referred to a specialist right away. Treatment can start in a few days.Back to topUpdated: February 10, 2011