Using a health observance event to raise awareness: An assessment of World Birth Defects Day.

World Birth Defects Day (WorldBDDay), observed annually on March 3, was launched in 2015 to advocate for public health surveillance, research, and prevention of birth defects, along with improved care and treatment for affected individuals. Following its fifth observance in 2019, we assessed WorldBDDay by analyzing: (a) engagement and content of over 2000 WorldBDDay posts on Facebook, Twitter, and Instagram; (b) interview responses from 9 WorldBDDay charter (founding) organizations on their perceptions of strengths and areas for improvement for WorldBDDay; (c) survey responses from 61 WorldBDDay 2019 partner (participating) organizations on their WorldBDDay 2019 activities; and (d) post-2019 social media engagement. Most social media posts (60%) occurred from organizations using Twitter (80% vs. 14% for Instagram and 6% for Facebook), although posts from individuals had higher levels of engagement (e.g., likes and comments). The highest engagement occurred for posts focused on general awareness, prevention, or events. Charter organizations reported the need for existing and new partner engagement, including a designated WorldBDDay contact for regular communication and coordination of activities and prepared prevention-focused messaging. Partner organizations reported using the WorldBDDay toolkit, especially key messages and social media tips, and suggested expanding the toolkit with relevant resources. Post-2019 Twitter engagement was lower than 2019 WorldBDDay (peak event) but showed similar reach to WorldBDDay events prior to 2019. Our assessment identified WorldBDDay health observance events as an important tool to support knowledge dissemination and global community engagement around birth defects. Moving forward, engagement with more individuals and organizations may improve the reach of WorldBDDay.

Prenatally diagnosed congenital heart disease: the cost of maternal care.

OBJECTIVE: Little is known regarding the effects of a prenatal diagnosis of congenital heart disease (CHD) on the cost of antenatal and delivery care. We sought to compare the maternal costs of care in pregnancies where the fetus or child was diagnosed prenatally vs. postnatally. METHODS: Costs of maternal care were determined for pregnancies in which the fetus or child was diagnosed with CHD between 1997 and 2012 in the state of Utah. Cases of CHD were identified via a statewide birth defect surveillance program which included data on the timing of diagnosis, maternal demographic and clinical data, and linked to statewide inpatient maternal hospital discharge records. Antenatal testing costs were determined using Medicaid fee estimates and total facility costs were determined for all hospitalizations including delivery. The association of timing of diagnosis of CHD with costs was analyzed using univariable and multivariable models. RESULTS: Of 2128 pregnancies included in the study, 36% had a fetus prenatally diagnosed with CHD. The prenatal diagnosis group was more likely to have a termination or stillbirth and were younger at delivery (gestational age 37.3 vs 38.0 weeks, p < .001). Labor induction and cesarean delivery rates were similar between groups. Antenatal testing and delivery hospitalization costs were higher in the prenatal diagnosis group: $5819 vs $4041 (p < .001) and $10,509 vs $7802 (p < .001), respectively. Patients in the prenatal diagnosis group had longer lengths of hospital stays (3.5 vs 2.4 d, p > .001). After controlling for significant differences between the groups, including lesion severity, the prenatal diagnosis remained directly associated with antenatal testing costs (+$1472), maternal hospitalization costs (+$2713), and maternal hospital length of stay (+1.0 d). CONCLUSION: A prenatal diagnosis of fetal CHD was associated with increased prenatal costs, hospitalization costs, and hospital length of stay for affected pregnant patients.

Preventing birth defects, saving lives, and promoting health equity: an urgent call to action for universal mandatory food fortification with folic acid.

July 20, 2021 marked the 30th anniversary of the publication of the landmark trial by the British Medical Research Council showing unequivocally that maternal intake of folic acid (vitamin B9) starting before pregnancy prevents most cases of infant spina bifida and anencephaly-two major neural tube defects that are severe, disabling, and often fatal. Mandatory food fortification with folic acid is a safe, cost-effective, and sustainable intervention to prevent spina bifida and anencephaly. Yet few countries implement fortification with folic acid; only a quarter of all preventable spina bifida and anencephaly cases worldwide are currently avoided by food fortification. We summarise scientific evidence supporting immediate, mandatory fortification with folic acid to prevent the development of spina bifida and anencephaly. We make an urgent call to action for the World Health Assembly to pass a resolution for universal mandatory folic acid fortification. Such a resolution could accelerate the slow pace of spina bifida and anencephaly prevention globally, and will assist countries to reach their 2030 Sustainable Development Goals on child mortality and health equity. The cost of inaction is profound, and disproportionately impacts susceptible populations in low-income and middle-income countries.

Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.

BACKGROUND: Exome/genome sequencing (ES/GS) have been recently used in neonatal and pediatric/cardiac intensive care units (NICU and PICU/CICU) to diagnose and care for acutely ill infants, but the effectiveness of targeted gene panels for these purposes remains unknown. METHODS: RapSeq, a newly developed panel targeting 4,503 disease-causing genes, was employed on selected patients in our NICU/PICU/CICU. Twenty trios were sequenced from October 2015 to March 2017. We assessed diagnostic yield, turnaround times, and clinical consequences. RESULTS: A diagnosis was made in 10/20 neonates (50%); eight had de novo variants (ASXL1, CHD, FBN1, KMT2D, FANCB, FLNA, PAX3), one was a compound heterozygote for CHAT, and one had a maternally inherited GNAS variant. Preliminary reports were generated by 9.6 days (mean); final reports after Sanger sequencing at 16.3 days (mean). In all positive infants, the diagnosis changed management. In a case with congenital myasthenia, diagnosis and treatment occurred at 17 days versus 7 months in a historical control. CONCLUSIONS: This study shows that a gene panel that includes the majority of known disease-causing genes can rapidly identify a diagnosis in a large number of tested infants. Due to simpler deployment and interpretation and lower costs, this approach might represent an alternative to ES/GS in the NICU/PICU/CICU.

A proposal for the systematic assessment of data quality indicators in birth defects surveillance.

BACKGROUND: Quality control and improvement are a key part of the implementation of an effective surveillance program. Data quality indicators (DQI) are key tools but have not been widely used, especially in a low-resource setting. METHODS: We developed a list of data quality indicators of birth defects surveillance. These DQI address ascertainment, description, coding, and classification. RESULTS: We developed 40 DQI that can be used widely to assess the quality of data relative to birth defects of major clinical and public health impact. CONCLUSIONS: DQI have to be both comprehensive (e.g., assess all main surveillance processes) and practical (not require sophisticated or costly data elements), so that they can be used effectively in many different settings. We propose this list of DQI for use in surveillance program as a way to document the quality of the program; detect variations within and between programs, and support quality improvements.

Early Childhood Inpatient Costs of Critical Congenital Heart Disease.

OBJECTIVE: To assess longitudinal estimates of inpatient costs through early childhood in patients with critical congenital heart defects (CCHDs), for whom reliable estimates are scarce, using a population-based cohort of clinically validated CCHD cases. STUDY DESIGN: Longitudinal retrospective cohort of infants with CCHDs live born from 1997 to 2012 in Utah. Cases identified from birth defect registry data were linked to inpatient discharge abstracts and vital records to track inpatient days and costs through age 10 years. Costs were adjusted for inflation and discounted by 3% per year to generate present value estimates. Multivariable models identified infant and maternal factors potentially associated with higher resource utilization and were used to calculate adjusted costs by defect type. RESULTS: The final statewide cohort included 1439 CCHD cases among 803 509 livebirths (1.8/1000). The average cost per affected child through age 10 years was $136 682 with a median of $74 924 because of a small number of extremely high cost children; costs were highest for pulmonary atresia with ventricular septal defect and hypoplastic left heart syndrome. Inpatient costs increased by 1.6% per year during the study period. A single birth year cohort (~50 000 births/year) had estimated expenditures of $11 902 899 through age 10 years. Extrapolating to the US population, inpatient costs for a single birth year cohort through age 10 years were ~$1 billion. CONCLUSIONS: Inpatient costs for CCHDs throughout childhood are high and rising. These revised estimates will contribute to comparative effectiveness research aimed at improving the value of care on a patient and population level.

Improving maternal folate status to prevent infant neural tube defects: working group conclusions and a framework for action.

As infectious disease control programs achieve increasing success, further reductions in child mortality in low- and middle-income countries (LMICs) will require focused prevention strategies for birth defects and other noninfectious diseases. Neural tube defects (NTDs) can cause early death or lifelong disability. Preventing NTDs provides a feasible, significant opportunity to decrease the toll of birth defects and contribute to further reducing child mortality globally. The Micronutrient Forum convened a technical consultation on Folate Status in Women and Neural Tube Defects Prevention to develop a roadmap to inform and prioritize investments in NTD prevention in LMICs; help guide implementation efforts in terms of the feasibility of interventions and the potential for acceleration; and identify research and knowledge gaps. Here, we describe the impetus for and approach to the consultation and present the conclusions and a framework for developing a roadmap for action to accelerate NTD prevention in LMICs. The framework (1) provides options for action on folate status assessment; (2) outlines a way forward to develop and implement a time-bound global action plan for NTD prevention; and (3) identifies common impediments to NTD prevention, broad strategies to overcome or minimize these impediments, and basic building blocks necessary to accelerate action.

Evaluating cost and resource use associated with pulse oximetry screening for critical congenital heart disease: Empiric estimates and sources of variation.

BACKGROUND: Newborn screening for critical congenital heart disease (CCHD) using pulse oximetry is being implemented in the United States and internationally; however, few data are available on the associated in-hospital costs and use of resources. METHODS: Time and motion study in well-baby nurseries at two large urban hospitals in Utah using different approaches to pulse oximetry screening. Two observers recorded the time for each screening step together with provider and equipment characteristics. Structured questionnaire provided additional information on labor and equipment costs. RESULTS: Fifty-three CCHD screens were observed. At site A (n = 22), screening was mostly done by medical assistants (95%) using disposable probes (100%); at site B (n = 31), screening was mostly performed by certified nursing assistants (90%) using reusable probes (90%). Considering only first screens (n = 53), the median screen time was 8.6 min (range: 3.2-23.2), with no significant difference between sites. The overall cost ($ in 2014) of screening per baby was $24.52 at site A and $2.60 at site B. Nearly all the variation in cost (90%) was due to the cost of disposable probes; labor costs were similar between sites. CONCLUSION: CCHD screening by means of pulse oximetry is reasonably fast for most babies, leading to relative small labor costs with little variation by provider type. The main driver of costs is equipment: in a high throughput setting, reusable probes are currently associated with considerable cost saving compared with disposable probes. As programs expand to universal screening, improved and cheaper technologies could lead to considerable economies of scale.

Risk factors for Dandy-Walker malformation: a population-based assessment.

Dandy-Walker malformation (DWM) is the most common congenital malformation of the cerebellum, but its causes are largely unknown. An increasing number of genes associated with congenital cerebellar malformations have been identified; however, few studies have examined the potential role of non-genetic, potentially modifiable risk factors. From the National Birth Defects Prevention Study, we examined maternal, paternal, and infant characteristics and maternal conditions and periconceptional exposures (from 1 month before to 3 months after conception) among infants with DWM (n = 160) and unaffected controls (n = 10,200), delivered between 1997 and 2009. Odds ratios, crude (cOR) and adjusted (aOR) were computed using logistic regression. Maternal factors associated with DWM included non-Hispanic black race/ethnicity (aOR = 2.0, 95%CI: 1.3-3.2). Among maternal conditions, a history of infertility increased the risk for DWM (all: aOR = 2.4, 95%CI: 1.3-4.6; multiple: aOR = 3.9, 95%CI: 1.7-8.9). The lack of association with many maternal exposures supports the hypothesis of a major contribution of genetic factors to the risk for DWM; however, the observed associations with maternal non-Hispanic black race/ethnicity and maternal history of infertility indicate that further research into factors underlying these characteristics may uncover potentially modifiable risk factors, acting alone or as a component of gene-environment interactions.

Newborn screening for critical congenital heart disease: essential public health roles for birth defects monitoring programs.

Newborn screening for critical congenital heart defects, added in September 2011 to the Recommended Uniform Screening Panel in the United States, is a new public health priority and has particular relevance for state birth defects surveillance programs. In this commentary, we review the background to potential involvement by birth defects programs with screening, and detail key questions that these programs can evaluate: (1) health outcomes after newborn screening among affected children; (2) missed primary targets of screening (i.e., affected children who were not screened or had false-negative screens); (3) burden and screening accuracy for secondary targets; (4) the role of altitude, sociodemographic characteristics, and other special circumstances; (5) the contribution of prenatal and clinical diagnoses before newborn screening; and (6) costs and service utilization. To address these issues, monitoring programs will need to pay particular attention to: (1) data sources and quality; (2) timeliness; (3) long-term follow-up for comprehensive outcomes; (4) reporting standards; and (5) state and national program coordination. Although some aspects of involvement with these screening programs will require new partnerships and paradigm shifts in birth defects program operations, the visibility of these screening programs among stakeholders will also provide birth defects programs with new opportunities to demonstrate their usefulness.

Trends of selected malformations in relation to folic acid recommendations and fortification: an international assessment.

BACKGROUND: Two crucial issues relative to the benefits and impact of folic acid in the prevention of birth defects are whether supplementation recommendations alone, without fortification, are effective in reducing the population-wide rates of neural tube defects (NTDs), and whether such policies can reduce the occurrence of other birth defects. Using data from 15 registries, we assessed rates and trends of 14 major defects, including NTDs, in areas with official recommendations or fortification to assess the effectiveness of recommendations and fortification on a wide range of major birth defects. METHODS: We evaluated surveillance data through 2003 on major birth defects from population-based registries from Europe, North America, and Australia. All included ascertainment of pregnancy terminations (where legal). Trends before and after policies or fortification were assessed via Poisson regression and were compared via rate ratios. RESULTS: Significant changes in trends were seen for NTDs in areas with fortification but not in areas with supplementation recommendations alone. For other major birth defects, there was an overall lack of major trend changes after recommendations or fortification. However, some significant declines were observed for select birth defects in individual areas. CONCLUSIONS: Recommendations alone remain an ineffective approach in translating the known protective effect of folic acid in population-wide decline in NTD rates. Fortification appears to be effective in reducing NTDs. The effect on other birth defects remains unclear.