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Certain diseases can be present at birth, even if there are no symptoms. Early detection and treatment of some disorders can help prevent severe mental handicap, growth problems, health problems or even sudden infant death. This early detection process is called newborn screening and includes a blood test and careful examination by a doctor or midwife.
During the first few days after birth, a small blood sample is taken by a simple heel prick, which causes only a moment of discomfort. The blood sample is sent to the laboratory at BC Children’s Hospital for testing.
Your newborn baby will be tested for metabolic disorders, endocrine disorders, blood disorders and Cystic Fibrosis. For more information on these tests, visit www.newbornscreeningbc.ca.
The newborn screening test should be done between 24 and 48 hours after birth. Babies should not leave the hospital without a blood test.
Babies born outside a hospital setting, at home under the care of a midwife, will be tested during a home visit.
Babies born in hospital and discharged less than 24 hours after birth will require 2 blood tests – one just prior to discharge and a second blood test before 2 weeks of age. The second sample is taken to test for disorders that cannot be found until 24 to 72 hours after birth.
The results will be ready usually in a few days. You will not be contacted if the results are normal or negative. If one of the screening test results is positive, your family doctor or midwife will contact you and additional testing will be arranged. The results of follow-up tests will either be normal and rule out the possibility of a disorder, or confirm the diagnosis.
A negative screening test result means that the chance your baby has a disorder is very low. Very rarely, the test does not pick up a disorder in a baby.
Approximately 45,000 babies are tested for these disorders every year in B.C., and about 40 children a year are identified with one of these treatable conditions.
Most test results are negative. However, if your baby has one of these conditions, 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.
For more information on newborn screening, visit www.newbornscreeningbc.ca or contact your family doctor, registered midwife, or local public health unit.
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