1. Screening Tiny Hearts in Ontario: Newborn Screening for CCHD
BORN Conference
April 25, 2017
Jennifer Milburn, BSc. MHA
Director, Newborn Screening Ontario (NSO)
Thank you to Born for inviting me to speak about this new exciting part of Newborn Screening in Ontario.

2. Objectives
Explain the Newborn Screening Ontario (NSO) Disease Panel and how Critical Congenital Heart Disease (CCHD) fits with other NSO testing.
Describe the importance of provincial collaboration and standardization in a successful screening program.
Highlight the importance and uses of data in ensuring quality screening at the patient and population level.

3. The Best Possible Health Through Screening
Newborn Screening
The Best Possible Health Through Screening
Newborn screening detects serious diseases that are not apparent at birth. Most affected infants look healthy at birth and do not have a family history of the disease; therefore every infant is at risk.
Early identification of these diseases allows treatment that may prevent growth problems, health problems, mental retardation, and sudden infant death.
Foundation on newborn screening in general – it is a province wide program aimed at early intervention to promote healthy childe development and prevent death.
There are well established criteria around what diseases are included in newborn screening – basically it must be serious – and most are rare diseases. We must be able to detect it early, ideally before the onset of symptoms, and there must be a treatment or cure available if caught early.

4. The NSO Panel
NSO tests a small blood sample from all babies born in Ontario for multiple rare, but treatable, diseases.
Metabolic Diseases - where the body is unable to break down certain substances in foods, like fats, proteins or sugars
Endocrine Diseases - where the body produces too much or too little of certain hormones
Sickle Cell Disease (SCD) -  which affects the movement of oxygen in the blood
Cystic Fibrosis (CF) -  which causes problems with
breathing and growth
Severe Combined Immune Deficiency (SCID) -  
which affects the body’s ability to fight infections
The newborn screening program has existed in it’s present form since 2006, with a centralized laboratory located at the Children’s hospital of eastern ontario in Ottawa. We are the coordinating body for the provincial program. We provide supplies, educational materials…. We coordinate the sample transportation system… ensure quality and evaluate program performance across the screening system.
We receive about 150,000 dried blood spot cards annually for testing and the number of diseases tested has grown over time, from only 3 in 2006, to over 25 diseases now, the most recent addition being SCID in When a screen positive is detected in our laboratory, NSO clinical staff refers the baby to regional treatment centres across the province for follow up diagnostic testing and treatment if necessary.
2008
2013

5. Adding CCHD to the Panel
At the request of the MOHLTC, and in collaboration with Hospitals and Midwifery Practices across the Province, Newborn Screening Ontario is proud to be implementing Pulse Oximetry Screening for Critical Congenital Heart Disease (CCHD) for Ontario Babies.
In 2016, CCHD was approved to be added to NSO’s panel for diseases screened. This is a paradigm shift for NSO as it is the first test that is not done on the blood spot, but rather it is done through Pulse Oximetry measurements - A simple, painless test that can identify a problem with the baby’s oxygen levels.

6. The Addition Process
It has been a long time coming… In 2011, in the US, the Dept of Health and Human Services recommended adding CCHD screening to the recommended uniform screening
Ontario is the first province in Canada to have this standardized implementation.
Phased approach – currently 15 sites in phase 1, getting feedback on processes, card, algorithm, follow up practices. Modifying prior to full roll out.
Targets
Generous timeline that allows organizations to choose the best timeframe for their implementation.
- other priorities (accreditation or other projects)
Encouraging regional collaboration – ie. hospitals with their associated midwifery groups and newborn care providers and vice versa
- better coverage, better implementation for follow up services
- consistent services within a region for familes
Currently we are in phase 1 of implementation, with 15 sites (hospitals, midwifery practices and post-natal clinic) live. Phase 2 begins in June with a full provincial roll out anticipated by the end of 2017.

7. Why screen for CCHD? In Canada, 3 in 1000 babies are born with CCHD
Unrecognized CCHD can result in sudden deterioration and death.
With early identification, babies with CCHD can receive treatment that can prevent death or disability.
~50% of cases are detected by prenatal ultrasound
How does CCHD fit with the other diseases on the NSO panel – it is serious, but relatively rare. Early intervention makes the difference for better outcomes.
Delay of treatment until newborns with CCHD are critically ill increases surgical mortality, prolongs hospital stays, and increases the risk of such serious adverse effects as neurological dysfunction.
Like all screening targets, the goal of CCHD screening is to increase the rate of detection prior to clinical deterioration in affected newborns
~20-30% of cases are detected through newborn physical assessment before discharge
Pulse Oximetry screening adds a third layer of detection for ~100 cases that may be missed annually in Ontario

8. CCHD as a POC test
CCHD is the first Point-of-Care (POC) screening test that NSO oversees
Testing takes place at the baby’s location
Results are available at the time of testing
Positive screens are immediately referred for clinical assessment and treatment as needed
Quality standards apply to POC testing, as in all laboratory testing, which is a unique challenge when dispersed province-wide.
CCHD screening is different from the other diseases screened for at NSO in that it is a point-of-care test, and the results are issued immediately. The results will be submitted to NSO, but the actual test is being done by submitters across Ontario. This also means that a positive screen will lead to immediate clinical assessment and treatment as needed.
However, the quality standards that NSO applies to it’s centralized laboratory testing are equally essential in a point of care test.

9. Provincial Collaboration
CCHD screening is a shared responsibility between NSO, hospitals, midwifery practices, and newborn health care providers; together they form the circle of care for CCHD screening. This collaboration is essential to the success and quality of the screening program.
CCHD Implementation Advisory Groups
Hospital Task Force
Midwifery Task Force
CCHD Disease Specific Working Group
CCHD screening is a shared responsibility between NSO, hospitals, midwifery practices, and newborn health care providers; together they form the circle of care for CCHD screening. Collaboration within this circle of care is essential to ensure quality and access for all babies of the province.
These three groups were created early in the project planning to inform and advise along the way. The hospital and midwifery task forces have been and continue to be engaged in decision making as we’ve worked through protocols and implementation planning. Each disease on our panel has a corresponsing DSWG, which is composed of disease specialists ( in this case cardiologists and pediatricians) who are involved in the follow up management of screen positive infants.

10. NSO’s Responsibilities
Ensure that systems are in place to support submitters, such that all infants have access to CCHD pulse oximetry screening according to Ontario standards.
Assure the quality of and evaluate the provincial program.
Although there is no blood spot to test, NSO’s role in the rest of the screening system remains the same. NSO will be supporting the implementation of this initiative with the provision of equipment standards and educational resources.  We will collect screening results for quality assurance and program evaluation.   Our goal is to support quality, consistency and access to CCHD screening for all babies in Ontario. 

11. Algorithm and Protocols
Standardization
The essential element to ensure reliability of screening province-wide is the standardization of processes and tools.
Algorithm and Protocols
Educational tools
Equipment
Data Submission
Standard of Care
As a point of care test, any variability could lead to different standards of care. It is therefore very important to work towards standardization in as many areas of implemenation as possible. I’ll focus specifically on these four areas.

12. Completed on well baby at 24-48 hours of age or before discharge
NSO Algorithm
Completed on well baby at hours of age or before discharge
if less than 7 days old
SCREEN
% in RH and F or >3% difference between RH & F
<90% in RH or F
≥95% in RH or F & ≤3% difference between RH & F
Repeat SCREEN in 1 h
≥95% in RH or F & ≤3% difference between RH & F
<90% in RH or F
% in RH and F or >3% difference between RH & F
This is the algorithm developed by the advisory groups for use for Ontario babies.
It is a revised version of the AAP algorithm for CCHD which is widely used in the states
Protocols based on Canadian cardiovascular society position statement
Note it outlines the recommended window for screening as hours.
It offers 3 result options for each screen with a possible 2 repeat screens (3 total)
Standardization is key, and we’ve worked with the advisory groups to address issues – like midwifery, 3rd repeat done at hospital.
Repeat SCREEN in 1 h
≥95% in RH or F & ≤3% difference between RH & F
<90% in RH or F
% in RH and F or >3% difference between RH & F
SCREEN POSITIVE
SCREEN NEGATIVE
Adapted from Kemper et al, 2011

13. Education
A number of resources are available to support education of front line staff. Thanks to our clinical coordinator Robyn, and the project team, launch kits are going out to sites with things like lanyard cards to help in the interpretation of the algorithm. We’ve updated out submitter handbook with CCHD content, and posted a number of presentations and documents, quizzes, checklists, etc.. on our website to ensure preparedness for CCHD screening.
IN addition, we will soon be releasing a e-learning module for submitters to use to ensure competency of staff at regular intervals, which is a requirement for POC testing.

14. PO Equipment
Detailed requirements for any pulse oximeter currently being used for screening.
Ex. motion tolerant, neonatal, low perfusion, continuous monitoring, etc..
Longer term (now through 2020) initiative towards standardization of equipment province wide.
RFP completed, two recommended models
Future development of automatic data transfer functionality
Equipment is something that we’ve spend a great deal of time on, with a lot of consultation across the province and with vendors. Standardization of equipment is essential for a few reasons:
We need to ensure all devices used in screening are able to produce accurate results in neonates who may not be the most cooperative – and we have provided a list of detailed requirements on which to evaluate the po’s currently in use.
Training and troubleshooting is easier
Procurement of instruments and consumables is cheaper
Future development of Data transfer solutions

15. Data Submission
New page on the existing Blood Spot Collection Card for collection of:
Baby Identifiers
Submitter Information
Birth and Collection date and time
PO Results
Reason screen was not done
Additional data will be collected via phone call for Referred cases:
Diagnostic tests done
Definitive diagnosis
Pending the automatic data transfer solutions – the final step is to have a way to communicate the final results back to NSO.
We have leveraged the existing blood dot card that is sent to NSO, and have added an additional page for CCHD data. It is possible that the blood spot and CCHD screen need to be done a different times or by different people – so the CCHD card can be separated from the blood spot card if needed, and baby’s demographic information as well as the form number on the card can be used to link them back together.
The data are entered into the NSO information system. This however is not just for record keeping – this is where those key responsibilities of NSO come into play.

16. Primary Uses of Data Reducing Risk
NSO will follow up with the submitter in cases where the baby may still be at risk.
Misinterpretation of the screening algorithm
Incorrect completion of screening algorithm
Missed Screens
Coordination of testing and referrals
NSO will identify cases where CCHD screening results may have an impact on the results or follow up for another NSO target disease, or vice versa.
i. Reduce risk in interpretation
NSO will identify cases where there has been a misinterpretation of the screening algorithm. Ex. indicated Pass when it should have been a repeat or refer.
ii. Reduce risks related to the screening algorithm
NSO will identify cases where the provincial algorithm has not been followed. An example of this would be the case where a pulse oximetry measurement has only been taken on one limb and the result cannot be evaluated (ie. one documented SpO2 value above 89 %.
iii. Reduce risk of missed screens
NSO can link to the blood spot record and to BORN data to identify cases where a CCHD screen has not been done. The recommendation will be for the infant to have a pulse oximetry screen done if they are under 7 days of age. In cases where the infant is not screened, the infant’s primary health care provider will be informed.
Iv. Interpret screening results for other conditions and coordinate follow up between multiple health care providers
IN some cases CCHD screening results may have an impact on the results or follow up of an infant for another NSO target disease, or vice versa. Some diseases on the blood spot screening panel may be related to a cardiac condition or cardiac surgery. This information is useful in the interpretation of screening results.
In addition, when an infant is being referred to a Regional Treatment Centre (RTC) as screen positive for a disease detected through blood spot screening, it is important to communicate a screen positive CCHD result and where the infant is being followed. Specialists at the RTC will be able to coordinate care and follow up with the health care providers already involved with the family and infant.

17. Primary Uses of Data Evaluation and Quality Assurance
Evaluate the screening protocol and algorithm.
Evaluate the performance of the Provincial screening program.
Enable health care providers to improve care by providing information on screening outcomes, and by allowing for comparison with benchmarks or other health care providers in the province.
Identify areas where CCHD screening best practice needs reinforcement and communicate this appropriately.
An individual hospital may only have a true CCHD case once a year or less – it is hard to identify trends or deviations when events are rare. However, with the collection of the provincial data, NSO has the bigger picture of the effectiveness of the screening protocols and algorithms. With the power of more data, we can set benchmarks and identify trends. With this data we can help make adjustments, either on a macro or micro level, to make the screening more accurate and efficient.

18. Quality Indicators in Progress
Process indicators
Incorrect interpretations
Submitter feedback
Incomplete information
Optimal timing of screens
Declines/deferrals
CCHD screens performed that follow the recommended algorithm
Missed Screens
Timeliness indicators
Missed screens
Age at screen
Comparisons to provincial trends and best practice standards
Timeliness of repeat, referral
Age at diagnosis
Outcome indicators
False positives, true positives (ie. PPV type indicators)
Diagnoses made by type
As we move towards full implementation, we are working with our advisory groups to define the indicators that will best inform our evaluation. Here is a short list of those we can capture in our data.
WE’ve also been putting some thought into the type of feedback indicators would be most useful to submitters to add to our quarterly feedback reports.

19. Secondary Uses of Data
Develop and maintain CCHD screening standards and guidelines, as well as educational materials.
Continuously improve CCHD screening standards and guidelines.
Develop educational tools and strategies to support Ontario-wide CCHD screening.
Conduct research following PHIPA and with REB approval.
Beyond the primary purposes, there is tremendous secondary benefit to this data in making improvements to guidelines and tailoring educational materials. There is also potential for research uses, within the limits of PHIPA and REB approvals.

20. Thank You
Thank you for your front line commitment to promoting healthy starts for
Ontario’s babies!
A best practice, evidence-based approach that is accessible and standardized can offer a quality approach for screening that all Ontario babies deserve.
The goal is that every newborn is offered CCHD Pulse Oximetry.
As is always the intention with screening, early identification results in better outcomes.