1. NewSTEPs Updates and Public Health Perspective on Critical Congenital Heart Disease Screening
Amy Gaviglio, MS, CGC
Genetic Counselor/Follow-Up Supervisor | Newborn Screening Program
Minnesota Department of Health
Marci Sontag, PhD
Director, Center for Public Health Innovation, CI International
NewSTEPs (Newborn Screening Technical assistance and Evaluation Program)
Lisa Hom Wandler, RN, Esq.
Collaborative Practice Facilitator
Children’s National Health System
Thank you for this opportunity to speak here with all of you today. It is an honor to be here and I am looking forward to continuing our work together on our shared goal – that no infant born with CCHD goes home undetected.
The development of this presentation was supported by Cooperative Agreement #U22MC24078 from the Health Resources and Services Administration (HRSA). Its contents are solely the responsibility of the authors and do not necessarily represent the official views of HRSA.

2. Overview What is NewSTEPs? State Data
Collaboration and Communication
National Data Repository
Technical Assistance
CCHD work group
Site Reviews
National Webinars
State Data
National Repository
Aggregate reports
Public health perspective/challenges, barriers & opportunities
Dr. Sarkar gave a very nice introduction to NewSTEPs role as a HRSA funded program. This presentation will focus on the specific goals of the program including being a mechanism for sharing best practices and collaboration between the states, as well as the existence of a national data repository. The technical assistance provided to the states is carried out thru several different program components. The work group… Marci will share data from the repository as well as a few state aggregate reports and Amy will finish this presentation with an overview of some of the challenges, barriers and opportunities confronted by public health departments in the states.

3. NewSTEPs and CCHD
NewSTEPs – Newborn Screening Technical assistance and Evaluation Program (Ojodu et al,Int. J. Neonatal Screen. 2018, 4(1), 1)
HRSA funded program to support US Newborn Screening Programs
CCHD Workgroup facilitates technical assistance and educational activities

4. National CCHD Technical Assistance Webinars
Quarterly webinars
Up to 65 attendees on live webinars
Archived and captioned at
Excellent resource with a lot of depth of context on a variety of issues. Moved from monthly initially to quarterly. Discussion following presentations has been really useful – report polled respondents. Topics are developed by TA work group and from surveys following webinars.

5. CCHD National Meeting Held on Feb 27-28, 2014 85 attendees
Following HRSA grants to the states in Last time our work group had a face to face meeting.

6. Question
What data related to CCHD screening are collected by newborn screening programs?
I would next like to spend a couple of minutes on the very important question of…

7. Purpose
To describe what is known about state practices in newborn screening for CCHD
Data sources:
NewSTEPs Data Repository
Survey of all Newborn Screening Programs
We sought to answer this question by examining data from two separate sources. 50 state survey and the data repository Marci will focus on in more detail.

8. And the survey said…

9. What Data are Collected by the NBS program?
A lot of variety…some states have no reporting requirement others require reporting of individual level screening data. Some states are required to collect individual data – variation there and some states have no data requirement, so therefore no ability to tract or enforce compliance.

10. Aggregate Data
[Our state] does mandate CCHD screening, but the legislature chose to pass it without attaching any funding or mechanism for identifying cases.  We get twice yearly reports from facilities with the number of infants born/refused/missed/abnormal screens, but no data on what happens to those abnormal screens.  
I sit on our child death review committee, so I know when it does not go well. It would be nice to know about the times when it does…
 From State “X”, Division of Public Health, response sent August, 2018
I wanted to share this quote that Amy and I received from our request for state CCHD screening data. State public health staff want to report data and would like to be able to understand outcomes and use the data for their public health purposes…very telling response as to why one state is unable to report individual case data to the repository.

11. Individual Data
CA Department of Health Services (DHCS) receives reports describing screening for only about 60% of state births - unfunded mandate
CA example: Required to screen beginning in 2014 but fewer than 60% reporting. Quote from Dr. Joseph Schulman, California Children’s Services, California Department of Health Care Services. “We get reports describing screening for about 60% of births statewide; it varies year to year.  While a mandated procedure, it is also an unfunded program.”
DHCS California Department of Health Services
Graph courtesy of Donna Goff, work partially supported by Dr. Goff’s California Community Service Grant, March of Dimes.

12. Individual Data
One confirmed by DC DOH case of CCHD identified through screening since the mandate went into place (effective Sept. 2015)
Six others since 2015 that cannot be confirmed by DC DOH
Not all hospitals are currently submitting data.
Diagnosis following screening fail
Reported from Cardiology/Neonatology
Confirmed by DC DOH
Pulm atresia intact septum, hypoplastic R 
TAPVR
CoA, VSD
DORV with IAA
Critical ductus dependent pulmonic stenosis
And here locally in DC, Dr. Martin and Children’s National has had the opportunity to work closely with the hospitals with birthing facilities while implementing CCHD screening. Our mandate was passed in 2015 with an effective date of Sept

13. NewSTEPs Data Repository

14. Case Ascertainment
Case level data shared between birthing center and Department of Public Health
Case level data shared between Department of Public Health and NewSTEPs
NewSTEPs Data
Repository

15. Case Ascertainment - Barriers
No Memorandum of Understanding in place to share case data
No resources to extract data
Case level data shared between birthing center and Department of Public Health
No requirement to share data
No resources to share data (unfunded mandate)
No resources to collect data
Case level data shared between Department of Public Health and NewSTEPs
NewSTEPs Data
Repository

16. Total Number of Cases Reported
NewSTEPs Data Repository
Individual Case Reports
145 infants with CCHD
105 NBS
40 False Negative
Non-CCHD/Other Findings (81):
Cor Triatriatum
Pulmonary Stenosis
Chiari Network
Congenital Cardiomyopathy
ASD, PFO, PDA
Direct Reports from States
Aggregate reports from 3 states
31 CCHD
51 Non-CCHD
7 of the CHDs were not reported with a DX. Assumed to be CCHD, Will follow-up with those states

17. Cases diagnosed by NBS: Demographics and Timelines
Timing of initial screen 26 hours (IQR 24 – 35)
Median age at diagnosis 2 Days, (IQR 1 – 2)
Birthweight 3160 grams, sd 478
Gestational age 39 (IQR )

18. Cases diagnosed by NBS: Findings

19. Cases undetected by screening* (False Negatives)
Timing of initial screen 26 hours (IQR 24 – 41)
Median age at diagnosis 11 Days, (IQR 4 – 19)
Birthweight 3073 grams, sd 719
Gestational age 39 (IQR )
Reasons for missed detection:
3 due to error/missed screen
36 biologic (result within normal range)
2 unknown
Reported by 2 states
* Includes missed cases reported to NewSTEPs and through state CCHD reports submitted to NewSTEPs

20. Cases undetected by screening* (False Negatives)

21. Number of Infants with CCHD Identified with NBS by Year*
* Includes only those cases reported to NewSTEPs

22. Number of Annual Births and CCHD Cases Identified by Newborn screen (per 100,000)

23. Percent of Rural Births is Not Associated with Detection Rate
States with more with greater than 40% of population living in rural areas (Census Bureau 2010)

24. Birth defects surveillance
Two state reports allowed comparison to birth defects registries
State A: 22 identified by NBS/230 total reported with CCHD
State B: 8 identified by NBS/561 total reported with CCHD

25. Public Health Perspective

26. The CCHD Screening Landscape in 2018
A picture may be worth a thousand words…
… but with CCHD screening…
…the devil is in the details.

27. CCHD Pulse Oximetry Screening Is…
One of the least uniform of the conditions on the RUSP
States utilize various:
Screening Algorithms
Follow-Up Practices
Data collection requirements and analysis
Integration methods with Birth Defects Programs

28. CCHD Pulse Oximetry Screening Is…
Unique to all other NBS conditions
Pulse Oximetry Screening is the third line of defense
And the first two lines are getting better (though unlikely to ever be 100%)
Other Public Health Programs are involved (e.g., Birth Defects Registries)
In most states, identified cases of primary CCHD targets are being reported
Necessity of the screen itself varies by individual and location
Dependent upon prenatal and clinical care availability and accessibility

29. Success in Screening
Infants who may have otherwise gone home undetected have been picked up by screening
Many, if not most eligible infants appear to be getting screened
Significant other diseases like PPHN and pneumonia are being detected
The addition of CCHD screening has not appeared to “shock” the system as some had feared (anecdotal)
Addition of CCHD screening seems to have heightened clinical vigilance
Addition of CCHD has resulted in stronger relationships with other Public Health Programs like Birth Defects Registries

30. Existing Challenges, Part 1
Data Collection: Buy-In; Timeliness; Quality; Border Babies
Initial screening results
Echocardiogram results
Non-cardiac findings
Reasons for not screening
Complex Algorithm
Uniform case definitions still being developed
Education regarding limitations of CCHD screening
Screening devices
Accuracy and precision of currently available screening devices; access to emerging technology

31. Existing Challenges, Part 2
Developments to best practices/algorithm
Also unknown, in many cases, if algorithm is being followed correctly
In 2017, Minnesota had a misinterpreted algorithm in 0.44% of cases (despite building algorithm into software)
Important for community to understand the impact and needs of public health if the recommended algorithm changes
Infants in the NICU
Out-of-Hospital Births
How to incorporate algorithm into existing workflows
Facility versus Program roles/responsibilities
Individual level QI/QA
System level QI/QA
Varying from traditional roles and responsibilities

32. Program Needs Going Forward
Support for robust data collection and analysis
Resources for follow-up (inclusive of long term follow-up) and quality assurance
Will allow for better evidence-based recommendation to improve upon current management and surveillance efforts
Addressing incomplete data for states that have a reporting requirement and how to collect data for those that do not
A fresh perspective
CCHD screening does not appear to fit into typical NBS paradigm
Metrics and expectations need to be different

33. MN QA Process for CCHD Screening
RESULTS
FOLLOW-UP PERFORMED
Unreported CCHD screening in the NICU
Ask units to enter that an Echo was done rather than screening
Still determining best practice to delineate true missed screens from those with prenatal dx or Echo
Unreported CCHD screens in the Well Baby Nursery
Run biweekly query and inform hospital of unscreened infants
Misinterpretation of screening algorithm
Run biweekly query to pull cases where the suggested outcome and chosen outcome don’t match and inform hospital
Screening algorithm not completed
Run biweekly query to pull cases where the final result was ‘Rescreen Required,’ but no further action was reported
Failed pulse oximetry screens
Refer to Birth Defects for abstraction

34. Success in Screening, but Challenges Remain
CCHD screening is offered in all states
Outcomes of the screen are still hard to quantify
In many states, screening is an unfunded program, reporting is not required and there is limited infrastructure.

35. Conclusions
Newborn Screening for CCHD is universally offered throughout the U.S.
Data collection and integration are varied
Opportunities exist for improving state and national reporting, follow-up and public health infrastructure.

36. Acknowledgements NewSTEPs CCHD Technical Assistance Workgroup Members
Deb Doyle, MS, LCGC
Regina Grazel, MSN, RN
John Hokanson, MD
Mary Kleyn, MSc
Jennifer Macdonald, MPH, BSN, RN
Gerard Martin, MD
Matt Oster, MD, PhD
NewSTEPs Staff
Erin Darby, MPH, MCHES

37. Contact Us www.newsteps.org Amy Gaviglio amy.gaviglio@state.mn.us
Lisa Hom
Marci Sontag
Erin Darby