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Newborn Screening
Discussion Guide
This discussion guide will help you to counsel your patients and answer their questions about the Ontario Newborn Screening Program (ONSP). The brochure Newborn Screening: A healthy start leads to a healthier life is also available to provide to your patient.
Health care providers must offer newborn screening to all infants born in Ontario. Although screening for phenylketonuria (PKU) and congenital hypothyroidism (CH) has been offered in Ontario since 1965 and 1978, respectively, expanded newborn screening covering at least 28 disorders was introduced in 2006. The Program currently screens for at least 28 different conditions.
Newborn screening is a strongly recommended part of neonatal care since babies affected with these disorders usually appear normal at birth. Unless they undergo screening, they may not be identified as having a disorder until irreversible damage has occurred.
In many, preventive care can improve or maintain the quality of life of these babies and their families. For babies who start to become ill soon after birth, newborn screening may save valuable time and resources in making a definite diagnosis. These conditions, if not treated, are associated with recurrent illnesses and/or developmental disabilities and/or death. Early diagnosis and treatment can result in a normal outcome. That's why it's so important to discuss newborn screening with your patients. Parents may decline screening, and health care providers should discuss this decision and document dissent by parents.
Points to cover in discussion with expectant parents :
- Offer newborn screening
Newborn screening is desirable for all babies born in Ontario, as part of neonatal care. Results are very accurate and cover at least 28 different conditions. These are disorders of metabolism, the endocrine system, and blood, as well as Cystic Fibrosis. Even if there is no family history of any of these disorders, babies are still at risk.
- Discuss the benefits of testing
Identifying a baby with one of the disorders is beneficial because early diagnosis and treatment can prevent consequences such as recurrent illnesses and/or developmental disabilities and/or death. Even affected babies will appear healthy at birth.
- Discuss how testing is done
The blood sample is obtained by pricking the baby's heel. The blood is transferred to a special paper card and sent to the ONSP.
- Testing must be timely
Acceptable samples can be taken between one day (24 hours) and seven days after birth, although the best time to collect the blood sample is when the baby is between two days (48 hours) and three days (72 hours) old. If a baby is tested before one day (24 hours) of age, the test should be repeated within 5 days, at the first postnatal checkup.
Babies with some of the conditions screened will start to become ill and may suffer irreversible damage soon after birth. Rapid identification and treatment can help prevent this damage.
- A repeat sample is sometimes required
It may be that the first sample was not taken properly, the amount of blood taken was not enough to complete the testing, or there was some other problem with the sample. If requested, a repeat blood sample should be taken as soon as possible.
- Discuss the difference between a screening test and a diagnostic test
A screening test determines if there is a high or low risk that a baby has a particular condition. Only a subsequent diagnostic test will determine with certainty if the baby is affected with a condition or not.
- Discuss possible results of screening
The baby screens negative for all disorders. A screen negative means that the baby has a low risk of having any of these disorders. In this case, a report is mailed to the hospital or health care provider that sent in the baby's sample. Over 99% of babies who have the newborn screen will have a negative result.
The baby screens positive for one of the disorders. A screen positive does NOT mean that the baby has a disorder; however, it does mean that the baby has an increased chance to have a disorder, and further investigation is required. A doctor, genetic counsellor, or nurse from the ONSP may contact the baby's parent(s)/guardian(s) or health care provider directly about the result. An ONSP physician will refer the baby to physicians at a regional treatment centre for follow-up diagnostic testing to determine if the baby has the disorder. In some cases, ONSP staff work directly with health care providers and families to arrange testing. If a diagnosis of a disorder is confirmed, the treatment centre will provide management counselling, and follow-up.
The treatment centre physicians will provide the referring physician at the ONSP with follow-up information about the baby. This includes medical information, which tests were done, the results of those tests, and whether or not the baby has the disorder ( see an example of a Diagnostic Evaluation Form)
This feedback allows the ONSP to make sure that screen positive babies receive appropriate and timely care. It is also important for you to note that the information from the evaluation form will be used to make sure that the ONSP provides quality service to the baby and all babies born in Ontario. The ONSP health care providers review this information and may contact you, the baby's parent(s)/guardian(s), or the regional treatment centre if they have questions about the baby's care. Parents/guardians may choose not to share this information, in which case, they should be encouraged to discuss this with their health care provider, a member of the health care team at your treatment centre, and/ or contact the ONSP.
- Unsatisfactory Sample
If the baby's sample is unsatisfactory (for example, if it was taken too early, or if there was not enough blood to do the testing), the ONSP will contact the hospital or health care provider that sent in the sample and ask them for a new sample. The health care provider who submitted the sample should call the patient to tell them that the baby's test needs to be repeated and make arrangements for another sample to be taken.
Answer any questions and give the parent(s)/guardian(s) a brochure.
Parents can also visit the Ontario Newborn Screening Program website.
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