Newborn Screening for CCHD in Ontario: Ensuring Healthy Hearts

1. Screening Tiny Hearts in Ontario: Newborn Screening for CCHD BORN Conference April 25, 2017 Jennifer Milburn, BSc. MHA Director, Newborn Screening Ontario (NSO)

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. 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.

4. The NSO Panel NSO tests a small blood sample from all babies born in Ontario for multiple rare, but treatable, diseases. • Metabolic Diseases - wherethe body is unable to break down certain substances in foods, like fats, proteins or sugars • Endocrine Diseases - wherethe body produces too much or too little of certain hormones • Sickle Cell Disease (SCD) -  whichaffects 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 2006-2007 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.

6. The Addition Process 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. Pulse Oximetry screening adds a third layer of detection for ~100 cases that may be missed annually in Ontario ~50% of cases are detected by prenatal ultrasound ~20-30% of cases are detected through newborn physical assessment before discharge

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.

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

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.

11. Standardization The essential element to ensure reliability of screening province-wide is the standardization of processes and tools. Algorithm and Protocols Educational tools Standard of Care Equipment Data Submission

12. NSO Algorithm Completed on well baby at 24-48 hours of age or before discharge if less than 7 days old SCREEN 90 - 94% 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 - 94% in RH and F or >3% difference between RH & F <90% in RH or F Repeat SCREEN in 1 h ≥95% in RH or F & ≤3% difference between RH & F <90% in RH or F 90 - 94% in RH and F or >3% difference between RH & F SCREEN NEGATIVE SCREEN POSITIVE Adapted from Kemper et al, 2011

13. Education

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

15. Data Submission New page on the existing Blood Spot Collection Card for collection of: • BabyIdentifiers • 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

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.

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.

18. Quality Indicators in Progress Process indicators • Incorrect interpretations • Incomplete information • Declines/deferrals • Missed Screens Timeliness indicators • Age at screen • Timeliness of repeat, referral • Age at diagnosis Outcome indicators • False positives, true positives (ie. PPV type indicators) • Diagnoses made by type Submitter feedback • Optimal timing of screens • CCHD screens performed that follow the recommended algorithm • Missed screens • Comparisons to provincial trends and best practice standards

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.

20. Thank You Thank you for your front line commitment to promoting healthy starts for Ontario’s babies!