Prevention and awareness of birth defects across the lifespan using examples from congenital heart defects and spina bifida

The emergence of birth defects programs in the United States accelerated in the 1970s and 1980s due to recognition that the use of the drug thalidomide during pregnancy resulted in fetal abnormalities (McBride, 1961; Smithells, 1962) and concerns around environmental exposures, such as Agent Orange exposure during the Vietnam War (Erickson et al., 1984). These experiences shaped the mission of many birth defect programs to focus on the surveillance of fetuses/infants affected by birth defects to monitor prevalence, identify and respond to clusters, and explore the epidemiology of birth defects as early warning systems to identify potential teratogens. This work helped identify additional risk factors for birth defects, support primary prevention opportunities, such as folic acid fortification and supplementation for neural tube defect prevention, and enabled evaluations of the success of those efforts (Harris et al., 2017). Improved early identification of birth defects through prenatal detection and critical congenital heart defect screening, as well as advances in clinical interventions and treatments, have improved survival of infants and children with birth defects over the last few decades (Ho, Quigley, Tatwavedi, Britto, & Kurinczuk, 2021; Wang, Hu, Druschel, & Kirby, 2011). Conditions once largely limited to infancy are now impacting the health and well-being of adults. For example, there are more people living with congenital heart defects and spina bifida in the United States than infants born with these conditions each year (Danielson, McKing, Devine, & Correa, 2009; Gilboa et al., 2016; Hoffman & Kaplan, 2002; Ouyang, Grosse, Armour, & Waitzman, 2007; Parker et al., 2010; Reller, Strickland, Riehle-Colarusso, Mahle, & Correa, 2008). The clinical and public health communities have begun to expand their mission and activities to include a focus not only on surveillance during pregnancy/infancy and primary prevention opportunities, but also on the needs of children, adolescents and adults and secondary prevention that can support the health and well-being of individuals living with birth defects across the lifespan. An initial step to promote the importance of advancing awareness of birth defects across the lifespan was the formal renaming of Birth Defects Prevention Month, which occurs in January each year, to Birth Defects Awareness Month (Centers for Disease Control and Prevention [CDC], 2021a). Historically, this event has provided an opportunity to promote primary prevention messages, including the importance of folic acid consumption before and during pregnancy, the avoidance of alcohol, and maintaining a healthy weight. The change from “prevention” to “awareness” enhances messaging opportunities to highlight issues that impact children, adolescents, and adults living with birth defects. Examples include ensuring children are connected to early intervention services to promote optimal development, supporting adolescents who are transitioning from pediatric to adult clinical care, ensuring adults living with a birth defect are receiving appropriate specialty care, and addressing the mental health needs of individuals living with birth defects. This name change can signal the commitment of the birth defects community to ensuring that the clinical and nonclinical needs of the populations we serve are met. However, much work remains. In this editorial, we explore public health surveillance and research activities, and clinical and nonclinical outcomes across the lifespan, using examples from congenital heart defects and spina bifida, which improve our understanding of the needs of individuals living with birth defects to promote secondary prevention opportunities. Most current efforts to conduct population-based surveillance and research of birth defects have focused on monitoring fetuses/infants, and lifespan surveillance has sometimes been considered a special initiative or exclusively a research effort. Despite the public health burden, little population-based information is available on children, adolescents and adults living with birth defects, including secondary disability developing later in life. Surveillance and research are needed on clinical outcomes and services, such as survival, health care access and utilization, and comorbidities, including mental health (Cassell, Grosse, & Kirby, 2014). Surveillance and research are also needed on developmental and nonclinical outcomes and needs, such as behavioral issues, educational needs and attainment, employment, and disability. Population-based surveillance of individuals with birth defects can provide a better understanding of the needed services and resources on a population level. This type of surveillance complements clinic-based research that may have more information on biomedical markers, measures of disease severity, and treatment history, but lower generalizability to the larger population of individuals with birth defects. There are multiple methods for conducting birth defects surveillance across the lifespan, each with its own strengths and limitations. Existing efforts have found efficiencies by linking clinical data sources, such as hospital discharge data, Medicaid claims data, and clinical and surgical data (Bennett, Mann, & Ouyang, 2018; Glidewell et al., 2018; Jill Glidewell et al., 2021). However, these linkages may suffer from lower positive predictive value of International Classification of Disease (ICD) codes to identify cases (Khan et al., 2018; Rodriguez et al., 2018) and limited information on severity of disease, past treatments or procedures, and demographic characteristics, including race/ethnicity. These linkages may require administrative efforts, such as data use agreements, navigating and interpreting laws and regulations on sharing personally identifiable information (PII), or creative methods to link and deduplicate cases across data systems, such as probabilistic linkage or hashing algorithms (Dusetzina et al., 2014), when PII is missing or cannot be shared across entities. Standardization of variables across data sets and across surveillance sites takes additional time and resources. All of these issues may reduce data timeliness. The sensitivity of this type of surveillance methodology for identifying all individuals with birth defects living in a defined area depends largely on the percentage of individuals with the specific birth defect who access care and whose birth defect is documented at those health care encounters, as well as the investigator's comprehensive access to health care data sources in that area. During initial visits to adult congenital heart defect centers, over 40% of adults with heart defects reported a gap in cardiac care of over 3 years and 8% had gaps over 10 years (Gurvitz et al., 2013). Therefore, congenital heart defect surveillance relying on health care encounters with a congenital heart defect-related ICD code may underestimate the prevalence and limit generalizability of results. Utilizing large administrative databases has shed light on health care access and expenditures among individuals with spina bifida; however, limitations exist such as accounting for patients that switch insurance plans, in particular between a public and private payor (Ouyang et al., 2007). Other surveillance efforts have focused on self-reported or proxy-reported outcomes that may not be found in clinical data, such as quality of life, employment, and educational attainment (Farr et al., 2020). Identification of individuals with birth defects for surveillance efforts becomes more difficult after early childhood when individuals begin dropping out of specialty care, moving outside of their place of birth, or changing their name. Those who remain in specialty care may disproportionately have more severe defects or poorer overall health and may not represent the larger population of people living with birth defects. Tracking individuals with birth defects, starting in early childhood and continuing through adulthood, will limit detection bias and survivorship bias, but takes time and resources. U.S. population-based surveillance of adolescents and adults with congenital heart defects began in 2012, with CDC funding three organizations to conduct congenital heart defect surveillance among adolescents and adults in their respective catchment areas, linking and deduplicating cases across data sources. This initial project showed the feasibility of conducting population-based surveillance of heart defects in adolescents and adults, although highlighted differences in prevalence of people with congenital heart defects documented in their health records across sites. Subsequent CDC-funded projects expanded surveillance across the lifespan efforts to five sites in 2015, and seven sites currently. These surveillance systems have also propagated other projects to examine barriers to transition to adult cardiac care, distance to care (Gaydos et al., 2020; Insaf et al., 2021; Schlichting, Insaf, Lui, Zaidi, & Van Zutphen, 2020; Sommerhalter et al., 2017), and validity of ICD codes (Rodriguez et al., 2018) for heart defects. To examine nonmedical outcomes, in 2016, three birth defects surveillance sites with active case-finding methods, together with CDC and March of Dimes, initiated the Congenital Heart Survey To Recognize Outcomes, Needs, and well-beinG (CH STRONG, http://www.chstrong.org/), with the objective to identify individuals with heart defects who survive into adulthood and survey them on health care use and barriers to care, health concerns, social and educational outcomes, reproductive health, and quality of life (Farr et al., 2020). Among individuals with heart defects born in 1980–1997, current contact information was found for two-thirds. Among the 1,656 participants ages 19–38 years at survey recruitment, over 40% were male and 30% were non-white. Initial CH STRONG findings show increased cardiac and noncardiac comorbidities in young adults with heart defects (Oster et al., 2021), substantial rates of disability (Downing et al., 2021), as well as a low percentage of young adults with heart defects with advance care directives (Farr et al., 2021). In addition to surveillance efforts, clinic-based research can help us understand more about the care and services received in different clinical settings and clinical outcomes for people with birth defects. An example of clinic-based research is the National Spina Bifida Patient Registry (NSBPR, https://www.cdc.gov/ncbddd/spinabifida/nsbprregistry.html), established by CDC in 2008 to provide a “framework for a systematic approach to improving the quality of care received at spina bifida clinics nationwide” (CDC, 2021b). In response to needs identified by the Spina Bifida Association's (SBA) 2005 survey of spina bifida clinics, the NSBPR was created to assess clinical care administered to people living with spina bifida and describe how care may affect outcomes. More than 20 articles have been published to date using NSBPR data; findings from NSBPR have been used to improve health outcomes and quality of life for people with spina bifida (Thibadeau, 2017). The registry has also informed the development of new research and treatment protocols. For example, based on findings from 2009 to 2012 NSBPR data showing that 26% of patients experienced skin breakdown (Kim et al., 2015), a working group convened by CDC, in collaboration with SBA, developed a Skin Breakdown Prevention Care Bundle. These preventative interventions have been implemented in both NSBPR clinics and other spina bifida clinics. Another example of a clinic-based effort that can inform care and treatment of individuals with birth defects is the CDC-supported Urologic Management to Preserve Initial Renal Function Protocol for Young Children with Spina Bifida (https://www.cdc.gov/ncbddd/spinabifida/umpire.html) (CDC, 2021c). The development of this protocol aims to determine the best approach to monitoring and testing in the first 10 years of life that can help maintain bladder and kidney function in infants and children with spina bifida (Routh et al., 2016). Infants born with spina bifida can have healthy kidneys at birth; however, they are at risk for developing kidney failure and urological complications that can lead to morbidity and mortality. This effort aims to mitigate, to the best extent possible, these sequalae of spina bifida. Individuals with birth defects are living longer (Gilboa et al., 2016; Ho et al., 2021; Shin et al., 2012; Wang et al., 2011) and thus there are needs for appropriate clinical care for children, adolescents, and adults living with birth defects, to support transition of care from pediatric to adult providers, and to ensure sufficient numbers of appropriately trained specialty providers. In addition, there is limited information on aging among those with birth defects and what special considerations might be for these populations. Knowledge of health care access and outcomes of people with heart defects has grown over the last 10 years. Children and adolescents with heart defects have higher morbidity and mortality than those without heart defects (Razzaghi, Oster, & 2015), among individuals with heart defects, outcomes disproportionately affect & 2020). Children and adolescents with heart defects substantial rates of additional cardiac and noncardiac such as heart and mental health conditions et al., et al., in 10 have additional noncardiac birth defects such as with heart defects are also more than those without heart defects to other cardiac and noncardiac comorbidities, such as heart and and adults with heart defects are as to have et al., et al., 2018; et al., 2021). people with heart defects, to those also have higher rates of such as and cardiac and outcomes, such as and birth (Downing et al., 2020; et al., 2020; Schlichting, Insaf, Zaidi, Lui, & Van Zutphen, individuals with heart defects out of specialty care, and may care at in adult congenital heart disease care (Gurvitz et al., & 2016). Children begin to out of care in with higher to among and et al., to transitioning from pediatric to adult care include the with the pediatric an adult and adult health insurance (Gaydos et al., and over of of children with heart conditions not transition issues with their Oster, & 2017). the of in care for adults with congenital heart defects has grown over the past has been that there are few adult congenital to care for this population & 2016). we not as much about clinical care for adults living with spina bifida as we for children, and there are more adults living with spina bifida than children, and adolescents with spina bifida (Ouyang et al., 2007; Parker et al., U.S. are as there are few clinical settings focused on care for adults with spina bifida. However, a & that a of for adults with spina bifida may be such as those for and the importance of secondary prevention in birth defect awareness survey of adults with spina bifida documented to transition from pediatric of care to adult care, systems of care and with about for individuals with spina bifida are limited & Individuals living with spina bifida may not the care and services they in a that addressing the needs of the spina bifida population as they is that we more about for adults with spina bifida to improve care and quality of life for all we more about for the spina bifida we to these findings for individuals living with spina bifida, their and their providers. This can be through information and to information is through health care for spina bifida. In the for for individuals with spina bifida focused on pediatric populations and not the health care needs of adults with spina bifida. In 2016, the an effort to health care including the of new specific to addressing care across the lifespan. This effort more than in care of people with and spina bifida and to development of for the Care of with Spina available on the 2021). Another to ensure research findings and health care for spina bifida the health care community and impact quality of care is through and CDC with the of to a quality project with of health care in and to improve transition for individuals with spina bifida, with the on Care et al., for the Care of with Spina Bifida 2021), and 2014). these efforts, the CDC and a for Care Outcomes, in which a of and shared at improving the transition of people living with spina bifida from pediatric to adult from needs, as individuals living with birth defects also have and behavioral There are with of people with birth defects to social services, for those who may have out of care or who may be a comprehensive may help identify and issues of early and children and adults to the services they et al., 2017). Children with heart defects may developmental and limitations from or fetal development in as well as and hospital & 2016). Children and adolescents with heart defects may be more than their to have with and and and Riehle-Colarusso, & are also more to be with and disability et al., to children and adolescents without heart defects, those with heart defects are more to special more of in a year, and in activities, social and (Farr et al., 2018; et al., with heart defects limitations with including and lower et al., 2016; & have found quality of life among individuals with heart defects, have not & 2013). Individuals with spina bifida may have quality of life & but factors are In addition to issues, both that support in the and activities, as well as access to health care and support and factors health and social of may impact a of quality of life. of the NSBPR spina bifida clinics have on a feasibility to quality of life using an overall quality of life and quality of life et al., 2020). Children with spina bifida can have in due to with and can also have et al., as they transition into adulthood & 2017). There are that the public health, and nonclinical communities can to advance the health and well-being of individuals of all ages living with birth defects. these communities can improve with organizations that support individuals living with birth defects. This organizations whose support birth defects and organizations that serve individuals living with birth defects but that might not be in birth defects example of such collaboration is the Congenital Heart which is by the and has a of clinical and organizations and The mission is to heart defects and improve outcomes for affected children and adults. 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