Screening FAQ

• The newborn screening dried blood spot test measures various markers in a baby’s blood that can be either increased or decreased if a baby has certain diseases. Newborn Screening Ontario tests babies for more than 25 serious diseases. 
• Screening for critical congenital heart disease uses pulse oximetry to measure oxygen levels in the blood.  
• Parents/guardians screen for biliary atresia by monitoring their baby’s poop during each diaper change for one month after birth. Parents/guardians will be provided with an Infant Stool Colour Card to use at home to check their baby’s poop. 
• The Infant Hearing Program provides hearing screening in Ontario. This is performed by measuring the ear or brain’s response to soft sounds played in a baby’s ear and may use small stickers on the baby’s head. 

The diseases screened for are carefully chosen to ensure that a baby’s health will be improved by making the diagnosis as early as possible. Finding these diseases early can prevent serious health problems and even save lives. 

Newborn screening is considered the standard of care for all babies and is highly recommended. Newborn screening is not mandatory in Ontario. Any decision to decline testing should first be discussed with a health care provider. If a parent/guardian declines newborn screening, the health care provider should document this decision in the baby’s medical record. Parents may be asked to sign the decline form on the newborn screening card. Visit our Screening page to learn more about the importance of newborn screening. 

Every year, about 350 babies in Ontario are born with one of the diseases that newborn screening blood spot testing looks for. About 400-450 babies are born with critical congenital heart disease. Most of the parents of these babies had no idea their baby could have one of these diseases. These babies have the chance to live longer, healthier lives because of newborn screening.

Yes. The baby’s family physician or pediatrician can arrange the newborn screening test. Please keep in mind that the newborn screen is most accurate in the newborn period, and most of the diseases become evident in early infancy. 

No. Newborn screening is a screen, and is not a substitute for diagnostic testing. Diagnostic testing is recommended if an infant is showing any signs or symptoms of one of the conditions on the newborn screening panel. 

If you are a health care provider and are concerned that a baby is at increased risk for, or is symptomatic of, one of the diseases screened, please contact us so we can notify our laboratory. 

Currently, newborn screening is free for all babies born in Ontario, including those who are not residents and do not have OHIP coverage. 

No. Newborn screening is a screen only, and cannot replace diagnostic testing. If there is a significant family history of a disease (for example, an affected brother or sister), special diagnostic testing should be performed to rule out that disease. 

If a baby has a significant family history of one of the diseases screened, please contact us. 

Newborn Screening Ontario (NSO) has implemented many safeguards to ensure the security and accuracy of the personal health information collected as part of the newborn screening process. 

All personal health information is stored in the baby’s record in our electronic information management system. This system is protected by network firewalls and password access. The system is accessible only to NSO staff and it allows privileges to be set for users based on their role in the program, thus limiting access to information on a “need to know” basis. The system also provides tools for ensuring accuracy, identifying errors, auditing, and specimen tracking, designed to meet privacy requirements and laboratory standards. 

NSO is located at the Children’s Hospital of Eastern Ontario (CHEO). Therefore, NSO is supported by the robust Information Technology (IT) infrastructure in place and well-defined policies and procedures around access control and appropriate use of information. Our facilities and storage areas are secure, requiring key and swipe card access. For more information, visit our Privacy and Confidentiality page.

The main reason newborn screening samples are stored is to ensure quality screening for all babies born in Ontario. Storing samples allows Newborn Screening Ontario (NSO) to make sure that the newborn screening system and laboratory tests are working properly. NSO strives to ensure that every baby is offered newborn screening, and that every baby with one of the diseases tested for is found in the newborn period so that treatment can begin. Newborn screening is only a screening test and is not diagnostic. Thus, screening may not always pick up every baby with one of the diseases. The stored samples help us improve our testing to try to make sure we do not miss any babies who need prompt treatment. 

To find as many babies with the diseases as possible, NSO regularly checks the screening cut-offs and decides what the normal ranges are for the markers measured. The stored samples help NSO perform this task. 

If a baby with a negative (“normal”) newborn screen is diagnosed with one of the diseases we screen for, the baby’s stored sample can be tested again. This helps NSO try and figure out why the baby was missed in the newborn period, and potentially stops another baby from being missed in the future. 

Please visit our Storage and Secondary Use page for more information about the storage of newborn screening samples. 

At the present time in Ontario, samples are stored for 19 years, as they have traditionally been regarded as part of a child’s medical record. The primary purpose of the sample is for newborn screening. However, other secondary uses are possible, including:

1. Quality control and quality assurance within the Newborn Screening Ontario (NSO) laboratory (i.e. ensuring that the laboratory and its testing are functioning properly);
2. Retesting of the sample to assist in making a diagnosis and at the request of health care providers involved in the care of the baby;
3. Usage after a legal warrant or court order (e.g. by the Coroner’s office for the investigation of a sudden infant death);
4. Release of a portion of a sample to a third party with the written consent of the individual or their surrogate decision maker (usually a parent);
5. De-identified samples may be used for research approved by a research ethics board, and in compliance with the provisions in the Personal Health Information Privacy Act (PHIPA). Identified samples can only be used for research with the written consent of the individual or their surrogate decision maker. 

Please visit our Storage and Secondary Use page for more information about the storage of newborn screening samples. 

There are currently only two ways that a baby’s samples can be used for research:

1. Research that needs the baby’s sample linked to the baby’s identity. This could only happen after obtaining written consent from the child (if they were old enough to give consent) or from their surrogate decision maker (usually a parent/guardian). The study must be approved by a research ethics board. 

• The parent/guardian and/or child would be fully informed of the purpose of the research as well as the pros and cons of participating in the research. 
• The parent/guardian and/or child would have the ability to choose to participate or decline to participate in such a research study. 
• If the parent/guardian and/or child declined – the child’s sample would NOT be used in the research. 
• A research ethics board is a group of people representing the fields of medicine, science, ethics and the general public. A lay person sits on this board to ensure that the research being done is in the best interest of society. The rest of the committee make sure the research is scientifically sound and does not violate ethical principles. 

1. Research that requires the baby’s sample may be allowed without obtaining the parent/guardian and/or child’s consent only if: 

• The baby’s sample is de-identified. This means that the part of the child’s sample used for such a study can NOT be traced back to the child in any way (e.g. all identifying information is removed from the sample: name, date of birth, health card number, address, postal code, mother’s name, birth hospital, etc.). This means no one, including the researcher, the government or insurance companies, will be able to link the research results to the baby or their family. 

and  

• The study has been approved by a research ethics board. 

Please visit our Storage and Secondary Use page for more information about the storage of newborn screening samples. 

A researcher who wants to access to stored samples for a study must submit a written request to Newborn Screening Ontario and gain approval from the Children's Hospital of Eastern Ontario (CHEO) and their own institutional research ethics board (REB). An application for a research study’s approval through a REB is a lengthy and rigorous process designed to guarantee the privacy and best interests of the research subjects (the babies whose samples will be used for the study). Details on the REB application process at CHEO can be found at: www.cheori.org. 

For more information, please visit our Storage and Secondary Use page.

Samples may be used for other purposes in the future, but only as authorized by PHIPA or any other applicable law, and following review by the Ministry of Health and Long-Term Care with the advice of the Newborn Screening Ontario (NSO) Advisory Council. You can learn more about how NSO is governed on our NSO Governance page. We will communicate any changes in sample storage and use via this website. As always, we will continue to protect the privacy of all babies screened. 

To request destruction or release of sample from Newborn Screening Ontario (NSO), the parents, legal guardian, or child must complete a request form or attend NSO offices with original copies of the required identifying documents to complete the forms in person. NSO requires an original copy of the form to complete the request.

A task force of the Ontario Newborn Child Screening Sub-committee was created in 2008 to consider issues related to blood spot storage and use. A minimum storage length of five years was recommended to provide effective screening testing and quality assurance for the program. This length of time was recommended for many reasons, most importantly because the diseases targeted by the screening program would be expected to cause health problems for an affected child by the time they were five years of age. Therefore, storing samples for this length of time would allow investigation and possible re-testing if a child was diagnosed with one of the conditions on our panel following a negative newborn screen. It would also allow confirmation of whether or not a screening sample was obtained on the child. For this reason, the task force also recommended that an individual (or their parents or guardians) be able to request return or destruction of the sample after this five-year period. 

If parents choose to have their baby’s sample destroyed or released and their child is under five years of age, NSO will honour this request. If parents wish to have the sample destroyed after the child’s fifth birthday, they need to make a request at that time. Please visit our Storage and Secondary Use page for more information. 

Parents/guardians with further questions or concerns about the potential use of their child’s stored sample can contact us. 

There is a formal process in Ontario for individuals or organizations to nominate a condition for newborn screening. The process begins with the completion of a nomination form. Please visit our Test Addition Process page for more information.