In Depth
Health
Newborn screening
FAQs
Last Updated April 20, 2007
CBC News
Alberta in April became the first province to screen newborns for cystic fibrosis, while Ontario and the Northwest Territories have announced plans to incorporate screening for the genetic disease into their programs.
What are newborn screening tests?
There are dozens of obscure genetic and metabolic disorders. Although even your family doctor may never have heard of them, they can be devastating and even fatal for the affected children.
Why are screening tests valuable?
With one drop of blood taken shortly after birth, new technology can identify about 50 disorders and abnormalities. If the disorder can be treated, the tests can help save lives and prevent brain damage or other health problems.
Why aren't the tests used more widely?
Experts don't know the accuracy and reliability of all the possible tests, or if treatments are safe and effective.
Geneticists want to avoid false positives, in which a newborn is incorrectly flagged as having a disease, causing unnecessary anxiety for parents.
A blood test taken shortly after birth can help doctors identify about 50 disorders and abnormalities.
To expand newborn screening tests, provinces and territories need tandem mass spectrometry machines, which are expensive to buy. Once a machine is purchased, health-care systems need trained specialists to interpret the results and counsel families.
Is there any harm in testing for conditions that have no treatment?
If a baby tests positive but doctors can't help her, then the family has to cope with a child that is labelled as sick. Also, Dr. Norman Fost, medical ethicist at the University of Washington, says the money provinces spend screening for conditions that can't be treated could be better spent elsewhere.
Is there a Canadian body that recommends which tests provinces and territories should use on newborns?
No, unlike in the U.S., Canada lacks recommendations or guidelines from a federal body.
All provinces and territories screen for two common diseases, called congenital hypothyroidism and PKU.
What tests are offered across Canada?
| Prov. | PKU | CH | CAH | G | B | T | H | MCADD | CF | #of other genetic and metabolic disorders * |
| B.C. | X | X | X | X | 0 | |||||
| ALTA. | X | X | U | X | U | X | 11 | |||
| SASK. | X | X | X | X | 26 | |||||
| MAN. | X | X | X | X | X | 3 | ||||
| ON. | X | X | X | X | X | X | X | X | U | 19 |
| QUE. | X | X | X | 11 (Voluntary) | ||||||
| N.S. | X | X | X | 10 | ||||||
| N.B. | X | X | X | 10 | ||||||
| P.E.I. | X | X | X | 10 | ||||||
| N.L. | X | X | X | X | X | 0 | ||||
| N.W.T. | X | X | U | X | U | U | 13 | |||
| Nun. | X | X | X | X | X | X | 13 | |||
| Yukon | X | X | X | X | 0 |
Source: CBC news and Savebabies.org
LEGEND:
- PKU - Phenylketonuria
- CH - Congenital Hypothyroidism
- CAH - Congenital adrenal hyperplasia
- G - Galactosemia
- B - Biotinidase deficiency
- T - Tyrosinemia
- H - Homocystinuria
- MCADD - Medium chain acyl CoA dehydrogenase deficiency
- X - Currently screening
- U - Testing to be introduced in the future
*Includes upcoming, voluntary, and targeted screening for specific groups
How do I test my baby for conditions that aren't included in my province or territory's routine screening?
Advocacy groups like Savebabies.org suggest contacting a laboratory to buy a screening kit. Canadian experts can't guarantee the accuracy and reliability of U.S. tests available for sale online.
Do any provinces screen for cystic fibrosis?
Alberta in April became the first province to screen newborns for cystic fibrosis, while Ontario and the Northwest Territories have announced plans to also incorporate screening for the genetic disease into their programs.
Advocates of the screening program say early detection of CF is crucial, given that 60 per cent of children are diagnosed before the age of one, often after demonstrating symptoms and suffering lung infections. About one in 3,600 babies in Canada will develop cystic fibrosis.
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