BACKGROUND AND OBJECTIVE: Critical congenital heart disease (CCHD) is endorsed by the US Secretary of Health and Human Services as part of the recommended uniform screening panel for newborns. Although initial recommendations for implementation exist, as states and hospitals have moved forward with implementation of screening, new challenges and areas for additional focus have been identified. The objective of this study was to develop recommendations to address current challenges and areas of focus surrounding CCHD newborn screening.
METHODS: A workgroup of experts and stakeholders was convened in Washington, District of Columbia, for a 1-day meeting in February 2012. At the beginning of the meeting, the stakeholders held a brainstorming session to identify areas of main priority based on their experience. After this, stakeholders broke into small groups to refine recommendations, which were then finalized by consensus.
RESULTS: Recommendations to address selection of screening equipment, standards for reporting of screening outcomes to stakeholders, training of health care providers and educating families, future research priorities, payment for screening, follow-up diagnostic testing, and public health oversight, and advocacy to facilitate effective and comprehensive screening were proposed. Suggestions for future work were developed.
CONCLUSIONS: Screening for CCHD presents novel challenges and opportunities; however, addressing these will strengthen newborn screening and newborn care networks, and ultimately improve health outcomes.
- AAP —
- American Academy of Pediatrics
- ACC —
- American College of Cardiology
- AHA —
- American Heart Association
- CDC —
- Centers for Disease Control and Prevention
- CHD —
- congenital heart disease
- CCHD —
- critical congenital heart disease
- FDA —
- Food and Drug Administration
- HRSA —
- Health Resources and Services Administration
- NIH —
- National Institutes of Health
- NJDOH —
- New Jersey Department of Health
- RUSP —
- recommended uniform screening panel
In October 2010, the US Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children recommended that screening for critical congenital heart disease (CCHD) using pulse oximetry be added to the recommended uniform screening panel (RUSP). After this, the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children collaborated with the American College of Cardiology (ACC), the American Academy of Pediatrics (AAP), and the American Heart Association (AHA) to convene a work group to discuss and describe strategies related to implementation. These approaches were later outlined in the article “Strategies for Implementing Screening for Critical Congenital Heart Disease,” published in Pediatrics,1 and have been used to facilitate the implementation of screening programs throughout the country.
In September 2011, Secretary Sebelius endorsed the addition of CCHD newborn screening to the RUSP. In addition, she supported the development of screening standards, infrastructure for point-of-service testing, educational materials by the Health Resources and Services Administration (HRSA), additional research conducted by the National Institutes of Health (NIH), and surveillance and cost-effectiveness research by the Centers for Disease Control and Prevention (CDC).2 Each state is responsible for determining best practice for CCHD screening, and state health departments have been actively engaged and typically serve as the central administrative leader for this initiative. Not uncommonly this involves educational and advisory responsibilities that differ from other newborn screening.
As states and hospitals began planning for and implementing CCHD screening, many important challenges were identified that will be addressed in detail. These challenges include the following: (1) selection of screening equipment; (2) standards for reporting of screening outcomes to stakeholders; (3) training of health care providers and educating families; (4) future research priorities; (5) payment for screening, follow-up diagnostic testing, and public health oversight; and (6) advocacy to facilitate effective and comprehensive screening. To develop strategies to address these challenges, an expert panel was convened in Washington, District of Columbia, in February 2012. In attendance were key stakeholders (see Appendix), including primary care providers, specialists (pediatric cardiologists and neonatologists), sonographers, nurses, researchers, industry representatives, parent advocates, an advocacy group (Genetic Alliance), professional organizations (AAP, ACC, AHA, American College of Medical Genetics), state public health officials, and representatives from federal agencies (CDC, HRSA, NIH, Food and Drug Administration [FDA]). This report summarizes the consensus recommendations from this meeting and provides clarification of outstanding issues not addressed in the article “Strategies for Implementing Screening for Critical Congenital Heart Disease,” published in Pediatrics.1
Oximeters used for screening for CCHD must be approved by the FDA for measuring arterial oxygen saturation. This approval is based on the accuracy assessed by studies performed in adults exposed to a range of oxygen concentrations. The FDA has not tested the performance of pulse oximeters in CCHD screening protocols and considers this screening only as “practice of medicine” use of the device. As such, interpretation of pulse oximetry results in newborns must take into account the clinical situation, and requires clinician judgment, interpretation, and decision-making to determine what, if any, diagnostic or therapeutic actions are appropriate. The FDA has no specific approval process for using pulse oximetry for the detection of CCHD. The expert panel developed a list of criteria for pulse oximeters to be used for CCHD screening (Table 1) to help those who are now adopting screening.
There are opportunities to improve pulse oximetry technology used for screening for CCHD. Because neonatal oximeters are approved based on adult data, it will be helpful to provide data from CCHD screening to the FDA as additional evidence of suitability of oximeters for neonates. In particular, by tracking results of screening using a uniform protocol, differences in oximeter characteristics, including sensitivity and specificity, can be evaluated. Incorporating CCHD screening algorithms and tools to facilitate accurate interpretation of the screening results into the software for the device or as a separate device would decrease potential error in the screening process. Because many congenital defects, including those that do not produce cyanosis, result in low perfusion, improvements in detecting low perfusion by pulse oximetry might improve the sensitivity of screening.
Public health monitoring is critical to ensure the effectiveness of the screening activities. Reporting of results is complex because there are a number of different entities that either screen or require the screening results. These entities include the birth facilities, primary care providers, specialty care providers, and state public health programs, including the newborn screening program and birth defects registries. Each entity has different data requirements to ensure that effective screening and evaluation and validation of the screening program can be accomplished. Table 2 presents minimum data recommendations and considerations for data exchange for reporting.
Training of Health Care Providers and Educating Families
Education of health care providers and families is important to the successful implementation of CCHD screening programs. At the first stakeholder meeting, it was recommended that the benefits and limitations of CCHD screening using pulse oximetry be the primary focus of educational materials.1 This remains the underlying theme of educational efforts targeted to both providers and families. Additional issues that should be addressed include identification of providers responsible for teaching, recommended components and key messages of educational programs, ensuring that educational materials are culturally competent and available in languages to meet the needs of a multilingual population, provider and parent education on new technology associated with CCHD screening (ie, pulse oximetry devices, electronic health exchange systems), community education, access to and dissemination of educational materials, and creation of regional networks for educational collaborations.
Educational materials for both parents and providers should provide background and significance of CCHD screening and information on CHD and CCHD appropriate to either population according to the intended use of the materials. Parents should be provided information on limitations of pulse oximetry for detection of CCHD, what they should expect if results are positive, information on CHD resources, and signs and symptoms of CHD. In addition, materials for parents should be suitable for a diverse audience and comprehensible at an appropriate reading level as determined by the organization responsible for creating the materials. Last, materials for parents should address issues of consent where required, as well as how results will be recorded and reported.
Information for provider groups will depend on the role of the provider. In addition to providing information on background and significance of CCHD screening, educational materials should provide information on communication strategies with parents across the spectrum of care and details related to screening protocols and processes. The response to positive screens should be outlined, including the need for echocardiographic evaluation. Advice on care coordination with parents/families and supportive measures for positive screens should be provided, appropriate to the level of the provider. Providers should be given guidance on reporting and documenting results as well as quality assurance measures. The technological limitations of CCHD screening should be reviewed, as well as the use of data reported to public health. All providers should understand that a negative screen does not rule out the presence of all forms of CHD in a given patient.
To make appropriate and safe recommendations for the concerns previously described, to avoid duplication of efforts, and to provide guidance on developing and disseminating educational information, the group recommended the development or identification of an “educational collaborative” including, but not limited to, states, providers, parents, national organizations, and industry (Table 3).
Future Research Priorities
Outcomes of Screening for CCHD
The goal of screening is to decrease morbidity and mortality from unrecognized CCHD. To verify that this goal is met, the extent to which mortality is decreased through screening, and whether serious morbidity, including end-organ damage, is prevented will need to be determined. This is difficult to assess because screening is only 1 aspect of care that affects outcome and outcomes overall have improved over time because of better care.
In evaluating outcomes, it will be important to specify the time frame of interest. The initial focus should be on outcomes in the first few weeks of life, often the most risky time period for patients with CCHD. However, newborn screening research is increasingly focused on longer-term outcomes, including neurodevelopmental outcomes,3 and it will be appropriate to take this approach in evaluating screening for CCHD.
Screening for CCHD should also be considered in the context of screening that already occurs, such as screening using fetal ultrasound. Routine fetal ultrasound is performed in most pregnancies in the United States and can identify several of the malformations that come under the rubric of CCHD.4 This leads to referral for fetal echocardiography, which may lead to the detection of up to 60% of CCHD prenatally.5 Postnatal screening using pulse oximetry may not be applied in cases in which there is a known prenatal diagnosis. Therefore, short- and intermediate-term outcomes should be evaluated on the basis of all forms of screening for CCHD.
Screening with pulse oximetry will identify conditions other than CCHD, including noncritical CHD and noncardiac conditions, such as pulmonary disease, sepsis, and metabolic disease. In addition, screening may be associated with psychosocial consequences for families, particularly in the setting of false-positive screens. To obtain a complete picture of screening for CCHD, it will be essential to capture these and other secondary outcomes. In addition, nationwide screening for CCHD should increase the awareness of CHD, and it would be useful to evaluate this phenomenon.
The efficiency of screening for CCHD will vary across facilities and individuals. It is clear from the quality improvement literature that almost any process can be improved by studying its components.6 It should be possible to improve the efficiency of screening by using the natural experiments that may arise as states implement different screening processes. As experience with CCHD screening increases, it is also likely that process research questions will be identified that can be pursued using a variety of study designs.
In addition to evaluating the process of screening, it will be useful to consider evaluating potential alternatives to pulse oximetry screening, such as new technologies or other measures. Such technologies and measures could include the peripheral perfusion index, biomarkers, or advanced echocardiographic techniques to obtain data that can be collected without the need for skilled technologists and are read remotely.
Pulse Oximetry Equipment
Some pulse oximetry equipment may be better than others for screening under certain circumstances. For example, most pulse oximeters have not been validated extensively at the lower oxygen saturations associated with CCHD. One strategy for resolving this gap is through the ACC-funded Improving Pediatric and Adult Congenital Treatment registry of pediatric cardiac catheterization procedures. During such procedures, simultaneous direct measurements of oxygen saturation and pulse oximetry readings are recorded, making the registry an important source of data to evaluate pulse oximetry equipment.
Immediate Next Steps
A number of programs are currently working to address existing research questions surrounding CCHD screening. The immediate next step is to compile a summary of the information available from existing programs and data sources, and then use this information to identify specific strategies to address the 5 research priorities that follow. Funding agencies could include NIH, Patient-Centered Outcomes Research Institute, HRSA, CDC, and private foundations. Care should be exercised to avoid conflicts of interest related to industry-funded research because of issues related to propriety technology.
Payment for Screening, Follow-up Diagnostic Testing, and Public Health Oversight
Costs of screening include developing educational materials for screeners and families, training screeners, purchasing and maintaining calibration of pulse oximeters, purchasing sensors, paying for the time required to conduct the screening, developing and maintaining a database to support reporting to public health authorities, and conducting or arranging for follow-up evaluations in the case of failed screens. Issues of who is responsible for bearing those costs and payments by health plans or government entities need to be addressed. In addition, the costs and logistics of providing public health oversight of CCHD screening and outcomes and administrative responsibility need to be assessed.
Studies conducted in the European literature suggest that screening is cost-effective in terms of cost per case of CCHD identified,7,8 but a formal assessment of cost per life-year saved has not yet been published. In addition, the differences inherent in the US health care system mandate that similar assessments be undertaken here. A formal cost-effectiveness analysis of screening for CCHD is being prepared by CDC as part of its response to Secretary Sibelius’ letter. Such analyses compare direct medical costs with health outcomes at the level of society but do not address the issue of who bears the costs.
Additional cost and cost-effectiveness analyses should be performed after more experience has been gained by various states with screening. Such experience can be expected to decrease the time required to screen, communicate with families, and arrange for any follow-up care that is needed and result in more stable cost estimates. In addition, it would be helpful to assess the costs of screening incurred by different stakeholders, including hospitals and birth centers.
Advocacy to Facilitate Effective and Comprehensive Screening
Although CCHD was added to the RUSP by Secretary Sebelius in September 2011, work continues at the state level toward uniform adoption of screening for CCHD. Because adoption of the complete RUSP is not required by all states, individual state action may be required, either through legislation or executive action, to mandate or promote the adoption by health facilities and providers of screening. Working at the state level, health care provider leaders and advocates have educated state legislators and departments of health on the benefits of screening. Each state has presented different challenges; for example, determining thresholds for high-altitude screening in the mountain states. Through different models of legislation, regulation, or as a standard of care, the ad hoc coalition of physicians, nurses, parents, and other advocates has succeeded in the adoption of CCHD screening through a variety of mechanisms. Indiana was the first state to pass legislation, quickly followed by Maryland, New Jersey, New Hampshire, West Virginia, Connecticut, and California. Several states, including Alabama, Utah, Georgia, Michigan, Ohio, and Pennsylvania, have taken or are in the process of taking a regulatory route to implementation. Arkansas and North Carolina are in the process of a legislative approach to approval and work continues as a general effort in Wisconsin and Maine. There are expected to be continued efforts in the 2013 legislative session. With continued education and advocacy, some states that were initially hesitant to adopt legislation may continue to move forward.
Local support can be developed through engagement with a variety of stakeholders (ie, state AAP Chapters, the March of Dimes, the AHA, regional CHD advocates, parent advocacy groups, the Congenital Heart Public Health Consortium, local state medical societies) and by offering model legislation or regulatory language. Another important partner in the effort is the state chapter of the American Hospital Association, as many hospitals view screening as an unfunded mandate as seen in the subcommittee debate in California. Resolving concerns among advocates and articulating clearly the benefits of CCHD before attempting to secure legislative or regulatory requirements to screen is advised.
At the state level, model legislation can mandate a regulatory approach or the screening itself. Legislation can define birthing facilities, specify CCHD screening, and call on the department of health to develop regulations to implement, track, and report screening in the state. At the federal level, 6 states or groups of states (MI, New England [ME, NH, VT, RI, and CT], NJ, UT, VA, and WI) were awarded grants from HRSA to help implement and evaluate programs. Funding to better standardize reporting and tracking is still needed. Other long-term federal efforts include adding CCHD screening to the National Quality Forum–approved measures and continued engagement of regulatory agencies (ie, the Joint Commission) in adopting CCHD screening as a standard. Eventually, CCHD screening results should be an element imbedded in each hospital’s electronic health record with a decision support tool assisting the physicians and nurses in assessing the patient and in reporting the results.
The New Jersey Experience
On June 2, 2011, Governor Christie of New Jersey signed legislation mandating newborn pulse oximetry screening. The law went into effect 90 days later on August 31, 2011, making New Jersey the first state in the nation to implement mandatory screening for CCHD. As such, critical review of the New Jersey experience can provide important lessons for other states implementing or planning to implement statewide CCHD screening. The New Jersey Department of Health (NJDOH) led the implementation efforts and established the New Jersey Critical Congenital Heart Disease Screening Working Group, which includes neonatologists, cardiologists, nurses, nurse midwives, pediatricians, parents, NJDOH staff from the New Jersey Birth Defects Registry, the newborn screening program, and newborn hearing screening program, as well as representatives from the NJDOH Division of Health Facilities Evaluation and Licensing, the AAP New Jersey Chapter, Maternal and Child Health Consortia, and the New Jersey Hospital Association. The NJDOH, with input from members of the CCHD Screening Working Group, developed a recommended screening protocol, trained hospital providers, and instituted a 2-pronged approach to data collection. Challenges to implementation identified in the New Jersey experience were the short implementation period, the unfunded mandate, and barriers associated with initiation of a new surveillance system.
CCHD newborn screening presents new challenges and opportunities to health care providers, families, hospitals, and state and federal health agencies. Addressing the challenges and acknowledging the opportunities for further work provides an opportunity to strengthen screening and newborn care networks in ways that should benefit children born with CCHD.
The following is a list of work group members and the agencies or organizations they represented at the meeting (being listed as a work group member does not imply that the members or the organization that they represent endorse all aspects of this report):
Swapna Abhyankar, MD; National Institutes of Health, National Library of Medicine
Mona Barmash; Congenital Heart Information Network
Amy Basken; Adult Congenital Heart Association
Robert Beekman, MD, FACC; American Academy of Pediatrics, Section on Cardiology and Cardiac Surgery; Cincinnati Children's Hospital Medical Center
Jim Bialick; Newborn Coalition
Ulf Borg; Covidien
Elizabeth Bradshaw Mikula, MSN, RN, CPN; Children's National Medical Center
Waldemar (Wally) Carlo, MD; American Academy of Pediatrics, Section on Perinatal Pediatrics
Lynn Colegrove; American Academy of Pediatrics
Sarah Copeland, MD; Health Resources and Services Administration
Sheri Crow, MD, MS; Mayo Clinic
Susan Cummins, MD, MPH, FAAP; FDA/Health and Human Services, Center for Devices & Radiological Health
Olivia Easley, MD; Bless Her Heart
James Fasules, MD; American College of Cardiology
Lori Garg, MD, MPH; New Jersey Department of Health
Rebecca Goodwin, JD; National Institutes of Health, National Library of Medicine, Lister Hill National Center for Biomedical Communications
Balaji Govindaswami, MBBS; Santa Clara Valley Medical Center, Division of Neonatology
Anne de-Wahl Granelli, PhD; The Queen Silvia Children's Hospital and Gothenburg University, Sweden
Scott Grosse, PhD; Centers for Disease Control and Prevention
John S. Hokanson, MD; Wisconsin Department of Health and Human Services/Critical Congenital Heart Disease Ad Hoc Task Force
Patrick Johnson; American Academy of Pediatrics
Kellie Kelm, PhD; Food and Drug Administration
Lazaros Kochilas, MD; University of Minnesota
Praveen Kumar, MD; American Academy of Pediatrics; Northwestern University Feinberg School of Medicine
John Laschinger, MD; Food and Drug Administration
Jody Lemacks; Mended Little Hearts
Keila Lopez, MD, MPH; Texas Children's Hospital Baylor College of Medicine, Congenital Heart Public Health Consortium
Jeannette Lowe; March of Dimes, National Office of Government Affairs
William Mahle, MD, FACC; American Heart Association
Marie Mann, MD, PhD; Health Resources and Services Administration/Maternal Child Health
Gerard R. Martin, MD, FACC; American College of Cardiology, Children's National Medical Center
Kristine Brite McCormick; It's My Heart, Inc.
Clement McDonald, MD; National Institutes of Health, National Library of Medicine
Stephanie Mitchell; American College of Cardiology
Cynthia Moore, MD, PhD; Centers for Disease Control and Prevention, National Center on Birth Defects
and Developmental Disabilities
Sue Nelson; American Heart Association
Richard Olney, MD, MPH; Centers for Disease Control and Prevention
Michael O'Reilly, MD, MS; Masimo Corporation
Matt Oster, MD, MPH; March of Dimes; Children's Healthcare of Atlanta; Centers for Disease Control and Prevention
Matthew V. Park, MD; Pediatrix Medical Group/NorthWest Children's Heart Care and Mary Bridge Children's Hospital/Tacoma General Hospital/Multicare Health System of Washington
Neel Patel; Center for Devices & Radiological Health
James Pawelski; American Academy of Pediatrics
Gail Pearson, MD, ScD; National Heart, Lung, and Blood Institute/National Institutes of Health
Alison Perencevich, MPH; American Academy of Pediatrics
Amy Phillips; Philips Healthcare
Nelangi Pinto, MD; University of Utah, Department of Pediatrics and Utah Department of Health
Ken Pool, MD; OZ Systems, Inc
Melissa Benish Putman; March of Dimes National, Office of Government Affairs
Guyan Randall; Masimo Corporation
Jeffrey Ranous; American Heart Association
Annamarie Saarinen, MA; Newborn Coalition, 1in100
Kenneth Shaffer, MD, FACC, FAAP; Pediatrix Cardiology
Jill Shuger, ScM; Health Resources and Services Administration
Elizabeth Stark, MS, CGC; Genetic Alliance
Trisha Stewart, PA-C; Covidien/Nellcor
Bonnie Strickland, PhD; Health Resources and Services Administration
Barry Thompson, MD; American College of Medical Genetics
Sandy Weininger, PhD; Food and Drug Administration, Center for Devices & Radiological Health
Josh Zets; PerkinElmer
Diane Zook, BS; MultiCare Health System: Tacoma General Hospital, Mary Bridge Children's Hospital, Good Samaritan Hospital, MultiCare Institute for Research & Innovation
Alan Zuckerman, MD; National Library of Medicine
We thank Sara Copeland, MD, Health Resources Services Administration/Maternal and Child Health Bureau, John Laschinger, MD, Food and Drug Administration, and Scott D. Grosse, PhD, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, for their participation on the expert panel and for their contributions to this manuscript.
- Accepted March 27, 2013.
- Address correspondence to Gerard R. Martin, MD, 111 Michigan Ave, NW, Washington, DC, 20010. E-mail: .
Drs Martin, Beekman, and Mahle served as facilitators of the February 2012 meeting, and contributed to the writing and editing of the manuscript; Dr Martin approved the final manuscript as submitted; Ms Mikula and Drs Fasules and Pearson served as break-out session facilitators at the February 2012 meeting; Ms Mikula also contributed to the writing and lead editing of the manuscript; Drs Fasules, Pearson, and Kemper contributed to the writing and editing of the manuscript; Dr Garg presented the New Jersey experience at the February 2012 meeting, and contributed to the writing and editing of the manuscript; and Dr Morrow drafted the initial manuscript and participated in the editing of the manuscript.
The findings and conclusions in this article are those of the authors and do not necessarily represent the official positions of the Centers for Disease Control and Prevention, the National Heart, Lung, and Blood Institute/National Institutes of Health, the Food and Drug Administration, or the New Jersey Department of Health. The federal and state authors are not involved in the advocacy activities discussed herein.
FINANCIAL DISCLOSURE: The authors have indicated they have no financial relationships relevant to this article to disclose.
FUNDING: No external funding.
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- Copyright © 2013 by the American Academy of Pediatrics