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Among children with and without heart conditions of different race/ethnicities, upstream social determinants of health, such as socio-economic status, access to care, and healthcare utilisation, may vary. Using caregiver-reported data from the 2016–19 National Survey of Children’s Health, we calculated the prevalence of caregiver employment and education, child’s health insurance, usual place of medical care in the past 12 months, problems paying for child’s care, ≥2 emergency room visits, and unmet healthcare needs by heart condition status and race/ethnicity (Hispanic, non-Hispanic Black, and non-Hispanic White). For each outcome, we used multivariable logistic regression to generate adjusted prevalence ratios controlling for child’s age and sex. Of 2632 children with heart conditions and 104,841 without, 65.4% and 58.0% were non-Hispanic White and 52.0% and 51.1% were male, respectively. Children with heart conditions, compared to those without, were 1.7–2.6 times more likely to have problems paying for healthcare, have ≥2 emergency room visits, and have unmet healthcare needs. Hispanic and non-Hispanic Black children with heart conditions, compared to non-Hispanic White, were 1.5–3.2 times as likely to have caregivers employed

Purpose: We examined the total prevalence, trends in prevalence, and age-specific mortality among individuals with anorectal malformation (ARM).Methods: We conducted a retrospective cohort study using data from 24 population- and hospital-based birth defects surveillance programs affiliated with the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) from 18 countries and for births from 1974 to 2014. We estimated pooled and program-specific total prevalence per 10,000 total births. Poisson regression was used to assess time trends in prevalence from 2001 to 2012 when most programs contributed data. We calculated selected age-specific proportions of deaths, stratified by case status.Results: The pooled total prevalence of ARM was 3.26 per 10,000 total births (95% Confidence Interval = 3.19, 3.32) for birth years 1974–2014. About 60% of cases were multiple or syndromic. Prevalence of multiple, syndromic, and stillborn cases decreased from 2001 to 2012. The first week mortality proportion was 12.5%, 3.2%, 28.3%, and 18.2% among all, isolated, multiple, and syndromic cases, respectively.Conclusions: ARM is relatively rare, with multiple and syndromic cases showing decreasing prevalence during the study period. Mortality is a concern during the first week of life, and especially among multiple and syndromic cases. Our descriptive epidemiological findings increase our understanding of geographic variation in the prevalence of ARM and can be used to plan needed clinical services. Exploring factors influencing prevalence and mortality among individuals with ARM could inform future studies.

The objective of our study was to determine whether recommended assessments were conducted on stillbirths delivered in our predominantly rural state.This was a descriptive study of stillbirths delivered in a rural state and included in one site of the Birth Defects Study to Evaluate Pregnancy Exposures stillbirth study. Hospital and fetal death records were examined to determine whether the following areas were evaluated: genetic testing (noninvasive perinatal testing, quad screen, amniocentesis/chorionic villus sampling with karyotype, microarrays, fetal tissue specimen), placenta/membrane/cord sent for pathologic examination, examination of the stillbirth after delivery by the healthcare provider, and fetal autopsy was performed.From July 1, 2015 to June 30, 2020, there were 1108 stillbirths delivered in Arkansas. The most frequent assessments undertaken were placental pathology (72%), genetic testing (67%), fetal inspection (31%), and autopsy (13%). All four assessments were done in 2% of stillbirth cases, three assessments in 27%, two assessments in 47%, one assessment in 14%, and no assessment in 15%. There was no association between stillbirth assessment evaluation by gestational age (lt;28 weeks andgt; 28 weeks;iP =/i0.221); however, there was an overall association between hospital delivery volume with number of components completed (iPlt;/i0.0001). Hospitals withgt;2000 deliveries had a higher proportion of three or four completions compared with those hospitals withlt;1000 deliveries or 1000 to 2000 deliveries (iP =/i0.021 andiP/ilt; 0.0001).Fetal stillbirth assessment is suboptimal in our rural state, with 15% of stillbirths having no assessment and only 2% having all four assessments. There is no association between stillbirth assessment and gestational age (lt;28 weeks vsgt;28 weeks), but there is a correlation between delivery volume and stillbirth assessment.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a novel coronavirus responsible for the COVID-19 pandemic that can lead to severe respiratory distress requiring hospitalization and can be fatal. Media have reported that various dietary supplements (DS) or their combination with different medications can prevent infection or decrease disease severity. Here, we analyzed data collected from 15,830 patient follow-up telephone interviews from the University of Arkansas for Medical Sciences COVID-19 testing sites from March 15 to August 1, 2020. Within the REDCap database, we recorded patient demographics and DS and medication use. In total, data on DS and medication use was available for 8,150 study participants, of whom 21.9% and 4.1% reported using DS or medications, respectively, to either prevent or treat COVID-19. The majority of respondents were female (64%) and non-Hispanic whites (44.5%). Most individuals (64.5%) who took DS were younger than 50 years of age. Products such as vitamin C (1,013, 33.2%), multivitamins (722, 23.6%), and vitamin D (294, 9.6%) were the most commonly used DS among the responders. Analysis of the DS use and symptom scores association did not provide a strong evidence of beneficial health effects of DS. The results of this study demonstrate that a significantly higher proportion of study participants considered usage of DS to mitigate or prevent COVID-19-related symptoms compared to those who preferred medications. However, lack of observable health benefits associated with ingestion of DS suggests that more rigorous research is needed to substantiate the label claims.

Anophthalmia and microphthalmia (A/M) are rare birth defects affecting up to 2 per 10,000 live births. These conditions are manifested by the absence of an eye or reduced eye volumes within the orbit leading to vision loss. Although clinical case series suggest a strong genetic component in A/M, few systematic investigations have been conducted on potential genetic contributions owing to low population prevalence. To overcome this challenge, we utilized DNA samples and data collected as part of the National Birth Defects Prevention Study (NBDPS). The NBDPS employed multi-center ascertainment of infants affected by A/M. We performed exome sequencing on 67 family trios and identified numerous genes affected by rare deleterious nonsense and missense variants in this cohort, including de novo variants. We identified 9 nonsense changes and 86 missense variants that are absent from the reference human population (Genome Aggregation Database), and we suggest that these are high priority candidate genes for A/M. We also performed literature curation, single cell transcriptome comparisons, and molecular pathway analysis on the candidate genes and performed protein structure modeling to determine the potential pathogenic variant consequences on PAX6 in this disease.

Obstructive heart defects (OHDs) share common structural lesions in arteries and cardiac valves, accounting for ~25% of all congenital heart defects. OHDs are highly heritable, resulting from interplay among maternal exposures, genetic susceptibilities, and epigenetic phenomena. A genome-wide association study was conducted in National Birth Defects Prevention Study participants (N

Because the etiology and outcomes of birth defects may differ by the presence vs. absence of co-occurring anomalies, epidemiologic studies often attempt to classify cases into isolated versus non-isolated groupings. This report describes a computer algorithm for such classification and presents results using data from the Texas Birth Defects Registry (TBDR).Each of the 1,041 birth defects coded by the TBDR was classified as chromosomal, syndromic, minor, or "needs review" by a group of three clinical geneticists. A SAS program applied those classifications to each birth defect in a case (child/fetus), and then hierarchically combined them to obtain one summary classification for each case, adding isolated and multiple defect categories. The program was applied to 136,121 cases delivered in 2012-2017.Of total cases, 49% were classified by the platform as isolated (having only one major birth defect). This varied widely by birth defect; of those examined, the highest proportion classified as isolated was found in pyloric stenosis (87.6%), whereas several cardiovascular malformations had low proportions, including tricuspid valve atresia/stenosis (2.3%).This is one of the first and largest attempts to identify the proportion of isolated cases across a broad spectrum of birth defects, which can inform future epidemiologic and genomic studies of these phenotypes. Our approach is designed for easy modification for use with any birth defects coding system and category definitions, allowing scalability for different studies or birth defects registries, which often do not have resources for individual clinical review of all case records.

BACKGROUND Both short and long interpregnancy intervals (IPIs) have been associated with adverse birth outcomes. We undertook a multistate study to describe the prevalence of selected birth defects by IPI. METHODS We obtained data from nine population-based state birth defects registries for singleton live births in 2000-2009 among mothers with a previous live birth identified through birth certificates. IPI was calculated as the difference between prior birthdate and start of the current pregnancy (conception date). We estimated prevalence of selected defects per 10,000 live births and prevalence ratios (PRs) with 95% confidence intervals (CIs) overall and stratified by maternal age at previous birth and race/ethnicity. Primary analyses focused on short IPI

Residential proximity to greenspace is associated with various health outcomes.We estimated associations between maternal residential proximity to greenspace (based on an index of vegetation) and selected structural birth defects, including effect modification by neighborhood-level factors.Data were from the National Birth Defects Prevention Study (1997-2011) and included 19,065 infants with at least one eligible birth defect (cases) and 8925 without birth defects (controls) from eight Centers throughout the United States. Maternal participants reported their addresses throughout pregnancy. Each address was systematically geocoded and residences around conception were linked to greenspace, US Census, and US Department of Agriculture data. Greenspace was estimated using the normalized difference vegetation index (NDVI); average maximum NDVI was estimated within 100 m and 500 m concentric buffers surrounding geocoded addresses to estimate residential NDVI. We used logistic regression to estimate odds ratios (ORs) and 95% confidence intervals comparing those in the highest and lowest quartiles of residential NDVI and stratifying by rural/urban residence and neighborhood median income.After multivariable adjustment, for the 500 m buffer, inverse associations were observed for tetralogy of Fallot, secundum atrial septal defects, anencephaly, anotia/microtia, cleft lip ± cleft palate, transverse limb deficiency, and omphalocele, (aORs: 0.54-0.86). Results were similar for 100 m buffer analyses and similar patterns were observed for other defects, though results were not significant. Significant heterogeneity was observed after stratification by rural/urban for hypoplastic left heart, coarctation of the aorta, and cleft palate, with inverse associations only among participants residing in rural areas. Stratification by median income showed heterogeneity for atrioventricular and secundum atrial septal defects, anencephaly, and anorectal atresia, with inverse associations only among participants residing in a high-income neighborhood (aORs: 0.45-0.81).Our results suggest that perinatal residential proximity to more greenspace may contribute to a reduced risk of certain birth defects, especially among those living in rural or high-income neighborhoods.

OBJECTIVE: To analyze the characteristics surrounding women who underwent cesarean delivery for stillbirth management in the rural, southern US state of Arkansas. METHODS: This was a planned secondary analysis of a retrospective descriptive study evaluating mode of delivery following the stillbirth of singleton pregnancies without anomalies or aneuploidy delivered in our state between July 2015 and June 2019. Data were extracted from a statewide reproductive health monitoring system and reviewed by the first three authors. Summary statistics were presented as means and standard deviations for continuous measures and frequencies and percentages for categorical variables. RESULTS: There were 861 patients diagnosed as having stillbirth between July 2015 and June 2019 in 44 hospitals in Arkansas. Seventy-five of those patients (8.7%) underwent cesarean delivery and are the basis for this analysis. Common indications for cesarean delivery were prior cesarean delivery (41%), malpresentation (18.7%), and abruption or hemorrhage (13.1%). Sixty-five percent of patients had a prior cesarean delivery. The most common complications were infection and hemorrhage, which accounted for 64.3% of known complications. The overall complication rate was 18.7% among stillbirths delivered via cesarean. CONCLUSIONS: This study demonstrates that cesarean delivery remains a common mode of delivery for management of stillbirth and that there is maternal morbidity associated with an abdominal delivery because 22.7% of the women undergoing a cesarean had an operative complication. It also highlights that prior cesarean delivery remains a common indication for a repeat abdominal delivery following a stillbirth despite the lack of fetal benefit.

To compare academic proficiency among children with congenital diaphragmatic hernia (CDH) versus controls and identify predictors of academic performance among children with CDH.Infants born with CDH in Arkansas, 2000-2005, were identified from the Arkansas Reproductive Health Monitoring System. For each case, two controls were selected from birth certificate data and matched for hospital and month of birth, sex, and race/ethnicity. Data on re-hospitalization within the first 5 years and payer data were collected from the Arkansas Hospital Inpatient Discharge database. Surviving cases and controls were linked to the Arkansas Department of Education database. Primary outcomes were odds of proficiency on fourth grade literacy and mathematics achievement tests. Multivariable logistic regression models evaluated the association between study characteristics and academic proficiency.The final study cohort included 25 surviving CDH cases and 31 controls who were linked to their education data. After adjusting for differences in characteristics (5-min Apgar score and associated congenital anomalies) between cases and controls, there were no statistically significant differences in literacy (72% vs. 84%, p = .93) or mathematics (64% vs. 81%, p = .98) test proficiency between the two groups. In multivariable analyses, among CDH cases, oxygen at discharge and Medicaid payer/longer hospital stay were associated with worse fourth grade literacy and mathematics proficiency, respectively.Oxygen at discharge, Medicaid payer, and longer hospital stay were associated with lower academic performance among CDH cases.

The Neurodevelopmental and Psychological Outcomes Working Group of the Cardiac Neurodevelopmental Outcome Collaborative was formed in 2018 through support from an R13 grant from the National Heart, Lung, and Blood Institute with the goals of identifying knowledge gaps regarding the neurodevelopmental and psychological outcomes of individuals with CHD and investigations needed to advance science, policy, clinical care, and patient/family outcomes. Accurate characterisation of neurodevelopmental and psychological outcomes in children with CHD will drive improvements in patient and family outcomes through targeted intervention. Decades of research have produced a generalised perspective about neurodevelopmental and psychological outcomes in this heterogeneous population. Future investigations need to shift towards improving methods, measurement, and analyses of outcomes to better inform early identification, prevention, and intervention. Improved definition of underlying developmental, neuropsychological, and social-emotional constructs is needed, with an emphasis on symptom networks and dimensions. Identification of clinically meaningful outcomes that are most important to key stakeholders, including patients, families, schools and providers, is essential, specifically how and which neurodevelopmental differences across the developmental trajectory impact stakeholders. A better understanding of the discontinuity and patterns of neurodevelopment across the lifespan is critical as well, with some areas being more impactful at some ages than others. Finally, the field needs to account for the impact of race/ethnicity, socio-economic status, cultural and linguistic diversity on our measurement, interpretation of data, and approach to intervention and how to improve generalisability to the larger worldwide population of patients and families living with CHD.

An estimated 1.4 million adults in the United States live with congenital heart defects (CHDs), yet their health outcomes are not well understood (1). Using self-reported, cross-sectional data from 1,482 respondents in the 2016-2019 Congenital Heart Survey To Recognize Outcomes, Needs, and well-beinG (CH STRONG) (2), CDC and academic partners estimated the prevalence of comorbidities among adults with CHDs aged 20-38 years born in Arizona (AZ), Arkansas (AR), and metropolitan Atlanta, Georgia (GA) compared with the general population (aged 20-38 years) from the National Health and Nutrition Examination Survey (NHANES) during 2015-2018 (3) and the AZ, AR, and GA Behavioral Risk Factor Surveillance Systems (BRFSS) during 2016-2018 (4). Adults with CHDs were more likely than those in the general population to report cardiovascular comorbidities, such as a history of congestive heart failure (4.3% versus 0.2%) and stroke (1.4% versus 0.3%), particularly those with severe CHDs (2). Adults with CHDs were more likely to report current depressive symptoms (15.1% versus 8.5%), but less likely to report previous diagnoses of depression (14.2% versus 22.6%), asthma (12.7% versus 16.9%), or rheumatologic disease (3.2% versus 8.0%). Prevalence of noncardiovascular comorbidities was similar between adults whose CHD was considered severe and those with nonsevere CHDs. Public health practitioners and clinicians can encourage young adults with CHDs to seek appropriate medical care to help them live as healthy a life as possible.

Background Global efforts are needed to elucidate the epidemiology of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the underlying cause of coronavirus disease 2019 (COVID-19), including seroprevalence, risk factors, and long-term sequelae, as well as immune responses after vaccination across populations and the social dimensions of prevention and treatment strategies. Methods In the United States, the National Cancer Institute in partnership with the National Institute of Allergy and Infectious Diseases, established the SARS-CoV-2 Serological Sciences Network (SeroNet) as the nation’s largest coordinated effort to study coronavirus disease 2019. The network comprises multidisciplinary researchers bridging gaps and fostering collaborations among immunologists, epidemiologists, virologists, clinicians and clinical laboratories, social and behavioral scientists, policymakers, data scientists, and community members. In total, 49 institutions form the SeroNet consortium to study individuals with cancer, autoimmune disease, inflammatory bowel diseases, cardiovascular diseases, human immunodeficiency virus, transplant recipients, as well as otherwise healthy pregnant women, children, college students, and high-risk occupational workers (including healthcare workers and first responders). Results Several studies focus on underrepresented populations, including ethnic minorities and rural communities. To support integrative data analyses across SeroNet studies, efforts are underway to define common data elements for standardized serology measurements, cellular and molecular assays, self-reported data, treatment, and clinical outcomes. Conclusions In this paper, we discuss the overarching framework for SeroNet epidemiology studies, critical research questions under investigation, and data accessibility for the worldwide scientific community. Lessons learned will help inform preparedness and responsiveness to future emerging diseases.

BACKGROUND: Down syndrome is the most common chromosomal disorder at birth and is often accompanied by structural birth defects. Current data on major structural defects in this population are limited. METHODS: States and territorial population-based surveillance programs submitted data on identified cases of Down syndrome and identified structural birth defects during 2013–2017. We estimated prevalence by program type and maternal and infant characteristics. Among programs with active case ascertainment, we estimated the prevalence of birth defects by organ system and for specific defects by maternal age (

BACKGROUND: Arkansas (AR) had the highest prevalence of gastroschisis in a recent study including 15 U.S. states. Our objective was to evaluate trends in prevalence and the spatiotemporal distribution of gastroschisis in AR. METHODS: Infants with gastroschisis, born 1998–2015, were identified from the Arkansas Reproductive Health Monitoring System. Birth record data were used as denominators for calculations. Maternal residence at delivery was geocoded for spatial analyses. Annual prevalence rates (PRs) were calculated. Joinpoint regression analysis was performed to examine trends in gastroschisis and report the annual percent changes (APCs) in PRs. Spatiotemporal analyses identified counties with unusually high PRs of gastroschisis. Poisson regression, including county, year, and county*year indicators, was fit to evaluate the PRs of gastroschisis, while adjusting for county-level maternal variables. RESULTS: We identified 401 cases of gastroschisis among 694,459 live births. The overall PR of gastroschisis was 5.8/10,000 live births. The prevalence of gastroschisis had a significant APC of +5.3% (p < .0001) between 1998 and 2012, followed by a nonsignificant yearly average decrease of −17% through 2015 (p = 0.2). The Emerging Hot Spot Analysis and SaTScan identified an overlapping five-county cluster from 2006 to 2013. Poisson regression model, including county (inside vs. outside cluster), time (before vs. after 2006), and county*time indicators, was fit to evaluate the PRs of gastroschisis. The model did not confirm the presence of a spatiotemporal cluster, once it adjusted for county-level maternal characteristics (p = .549). CONCLUSION: Close monitoring of rates of gastroschisis is warranted to determine if the PRs of gastroschisis continue to decline in AR.

BACKGROUND Birth defects are established risk factors for childhood cancer. Nonetheless, cancer epidemiology in children with birth defects is not well characterized. METHODS Using data from population-based registries in 4 US states, this study compared children with cancer but no birth defects (n = 13,111) with children with cancer and 1 or more nonsyndromic birth defects (n = 1616). The objective was to evaluate cancer diagnostic characteristics, including tumor type, age at diagnosis, and stage at diagnosis. RESULTS Compared with the general population of children with cancer, children with birth defects were diagnosed with more embryonal tumors (26.6% vs 18.7%; q

BACKGROUND: Studies of outcomes among adults with congenital heart defects (CHDs) have focused on those receiving cardiac care, limiting generalizability. The Congenital Heart Survey To Recognize Outcomes, Needs, and well-beinG (CH STRONG) will assess comorbidities, health care utilization, quality of life, and social and educational outcomes from a US population-based sample of young adults living with CHD. METHODS: Individuals with CHD born between 1980 and 1997 were identified using active, population-based birth defects surveillance systems from 3 US locations (Arkansas [AR]; Arizona [AZ]; and Atlanta, Georgia [GA]) linked to death records. Individuals with current contact information responded to mailed survey materials during 2016 to 2019. Respondents and nonrespondents were compared using χ(2) tests. RESULTS: Sites obtained contact information for 74.6% of the 9,312 eligible individuals alive at recruitment. Of those, 1,656 returned surveys, either online (18.1%) or via paper (81.9%), for a response rate of 23.9% (AR: 18.3%; AZ: 30.7%; Atlanta, GA: 28.0%; P value < .01). For 20.0% of respondents, a proxy completed the survey, with 63.9% reporting that the individual with CHD was mentally unable. Among respondents and nonrespondents, respectively, sex (female: 54.0% and 47.3%), maternal race/ethnicity (non-Hispanic white: 74.3% and 63.0%), CHD severity (severe: 33.8% and 27.9%), and noncardiac congenital anomalies (34.8% and 38.9%) differed significantly (P value < .01); birth year (1991–1997: 56.0% and 57.5%) and presence of Down syndrome (9.2% and 8.9%) did not differ. CONCLUSIONS: CH STRONG will provide the first multisite, population-based findings on long-term outcomes among the growing population of US adults with CHD.

BACKGROUND Fatty acids are crucial in embryologic development, including cardiogenesis. The impact of maternal periconceptional dietary fat intake on the risk of congenital heart defects (CHDs) has not been clearly elucidated. We hypothesized that maternal dietary fat intake during pregnancy is associated with risk of CHDs in offspring. METHODS We analyzed CHD cases and nonmalformed controls from the National Birth Defects Prevention Study, a case-control, multicenter population-based study of birth defects. We used multivariable logistic regression to analyze the association between maternal periconceptional dietary fat intake and occurrence of CHDs. RESULTS We examined 11,393 infants with CHDs (cases) and 11,029 infants without birth defects (controls). Multivariable analysis of maternal dietary fat intake adjusted for maternal energy intake demonstrated modest change in risk for 2 of the 25 CHDs analyzed; otherwise there was no association. Maternal dietary fat intake unadjusted for total energy was associated with increased risk for several CHDs. CONCLUSIONS After adjusting for total energy intake, maternal periconceptional dietary fat intake has a modest association with risk of a few specific CHDs. If maternal dietary fat intake does impact CHD risk, the effect is minimal. IMPACT In this large, case-control study, after adjusting for total caloric intake, maternal periconceptional dietary fat intake was not associated with increased odds of congenital heart defects. This study investigates the hypothesis that women's periconceptional fat intake alters the risk of congenital heart defects in offspring. Our results raise questions about the role maternal fat intake may play in cardiogenesis and risk of congenital heart defects. Additionally, they raise the question about whether maternal lipid metabolism, as opposed to fat intake, may influence cardiac development.

Background The aim of this study was to estimate severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection rates in the small rural state of Arkansas, using SARS-CoV-2 antibody prevalence as an indicator of infection. Methods We collected residual serum samples from adult outpatients seen at hospitals or clinics in Arkansas for non–coronavirus disease 2019 (COVID-19)–related reasons. A total of 5804 samples were identified over 3 time periods: 15 August–5 September 2020 (time period 1), 12 September–24 October 2020 (time period 2), and 7 November–19 December 2020 (time period 3). Results The age-, sex-, race-, and ethnicity-standardized SARS-CoV-2 seroprevalence during each period, from 2.6% in time period 1 to 4.1% in time period 2 and 7.4% in time period 3. No statistically significant difference in seroprevalence was found based on age, sex, or residence (urban vs rural). However, we found higher seroprevalence rates in each time period for Hispanics (17.6%, 20.6%, and 23.4%, respectively) and non-Hispanic Blacks (4.8%, 5.4%, and 8.9%, respectively) relative to non-Hispanic Whites (1.1%, 2.6%, and 5.5%, respectively). Conclusions Our data imply that the number of Arkansas residents infected with SARS-CoV-2 rose steadily from 2.6% in August to 7.4% in December 2020. There was no statistical difference in seroprevalence between rural and urban locales. Hispanics and Blacks had higher rates of SARS-CoV-2 antibodies than Whites, indicating that SARS-CoV-2 spread disproportionately in racial and ethnic minorities during the first year of the COVID-19 pandemic.

Objective To determine the accuracy and reliability of remotely directed and interpreted ultrasound (teleultrasound) as compared with standard in-person ultrasound for the detection of fetal anomalies, and to determine participants' satisfaction with teleultrasound. Study Design This was a single-center, randomized (1:1) noninferiority study. Individuals referred to the maternal–fetal medicine (MFM) ultrasound clinic were randomized to standard in-person ultrasound and counseling or teleultrasound and telemedicine counseling. The primary outcome was major fetal anomaly detection rate (sensitivity). All ultrasounds were performed by registered diagnostic medical sonographers and interpretations were done by a group of five MFM physicians. After teleultrasound was completed, the teleultrasound patients filled out a satisfaction survey using a Likert scale. Newborn data were obtained from the newborn record and statewide birth defect databases. Results Of 300 individuals randomized in each group, 294 were analyzed in the remotely interpreted teleultrasound group and 291 were analyzed in the in-person ultrasound group. The sensitivity of sonographic detection of 28 anomalies was 82.14% in the control group and of 20 anomalies in the telemedicine group, it was 85.0%. The observed difference in sensitivity was 0.0286, much smaller than the proposed noninferiority limit of 0.05. Specificity, negative predictive value, positive predictive value, and accuracy were more than 94% for both groups. Patient satisfaction was more than 95% on all measures, and there were no significant differences in patient satisfaction based on maternal characteristics. Conclusion Teleultrasound is not inferior to standard in-person ultrasound for the detection of fetal anomalies. Teleultrasound was uniformly well received by patients, regardless of demographics. These key findings support the continued expansion of telemedicine services. Key Points

Most females with congenital heart defects (CHD) will reach reproductive age. Our objective was to examine whether presence of disabilities is associated with reproductive health counseling, concerns, and experiences among women with CHD. Methods: We used 2016-2019 population-based data from the Congenital Heart Survey To Recognize Outcomes, Needs, and well-beinG (CH STRONG) among women ages 19 to 38 years with CHD born in Arkansas, Arizona, and Atlanta, Georgia. We examined contraceptive and pregnancy counseling, pregnancy concerns and experiences, and marital history by disability status. Disability was based on six validated questions on vision, hearing, mobility, cognition, self-care, and independent living. Multivariable Poisson regression was used to examine adjusted prevalence ratios (aPR) between reporting ≥ 1 disability and each outcome, adjusted for CHD severity, age, race/ethnicity, place of birth, and insurance type. Results: Of 783 survey respondents with complete data (88% of all respondents), 41.9% were 25-30 years of age, 66.8% were non-Hispanic White, and 41.5% reported ≥1 disability. Women with CHD and disabilities were more likely than women without disabilities to receive clinician counseling on safe contraceptive methods (aPR=1.3) and on avoiding pregnancy because of their CHD (aPR=2.3). They were also more likely to report concern about their ability to have children (aPR=1.2) and having delayed or avoided pregnancy because of their CHD (aPR=2.2). They were less likely to have ever been pregnant (aPR=0.8) or married (aPR=0.7). Associations held across specific disability types and after excluding 71 women with known chromosomal anomalies. Conclusions: Among women with CHD, those with disabilities may be more likely to receive clinician advice to avoid pregnancy and less likely to ever have been pregnant. Evidence-based information may improve services and help women with CHD and disabilities meet their reproductive health goals.

Racial disparities exist in mortality among children with heart conditions, but less is known about disparities in upstream determinants of health. Our objective was to assess differences in economic stability, access to care, and healthcare utilization by race/ethnicity among children with heart conditions. Using caregiver-reported data on 0- to 17-year-olds from the 2016-2019 National Survey of Children’s Health, we calculated prevalence estimates for family economic stability (caregiver educational attainment and work status), child’s healthcare access (insurance type, usual place of care, and problems paying for child’s care), and child’s healthcare utilization (receipt of preventive care, specialty care, and 1 and ≥2 emergency room (ER) visits in the past 12 months) by race/ethnicity (Hispanic, non-Hispanic (NH) Black, and NH White), accounting for complex sampling and weighted to produce national estimates. We used the predicted marginal approach to multivariable logistic regression to generate adjusted prevalence ratios (aPRs) controlling for child’s age and sex. Of 2,596 children with heart conditions, 65.5% were NH White and 52.2% were male. Compared to NH White children, Hispanic and NH Black children, respectively, were 0.9 to 0.8 times less likely to have caregivers who were employed or had more than a high school education. Hispanic and NH Black children were more likely to have public insurance (respective aPRs 1.8, 2.1) and less likely to have a usual place of care (aPRs 0.9, 0.8). Hispanic children were less likely than NH White children to have visited the ER once in the past 12 months, whereas NH Black children were more likely to have visited the ER once (aPR 1.4) and twice or more (aPR 2.5). Among U.S. children with heart conditions, racial/ethnic disparities were seen in indicators of economic stability, access to care, and healthcare utilization.

ObjectiveOur objective is to estimate CoV-2 infection rates in a rural state using seroprevalence of antibodies to CoV-2 as an indicator of infection.Study Design and SettingThis is a single-site study within an academic center and regional programs within the state of Arkansas. We obtained residual serum samples from a convenience sample of adults who were outpatients and came to the hospital or regional clinic for non-COVID-related reasons. We collected remnant in three time periods (August 15 to September 5, September 12 to October 24, and November 7 to December 19).ResultsIn 2020, the overall age, gender, and race standardized prevalence of CoV-2 antibodies was 2.6% (August to September), 4.1% (September to October), and 7.4% (November to December). There was no difference in seroprevalence between urban compared to rural areas. Positive tests were not uniformly distributed across racial and ethnic minorities. Higher seroprevalence rates were found in Hispanics and Blacks or African Americans compared to whites across all time periods.ConclusionsIn a state with a large rural population, 2.6-7.4% of people experienced CoV-2 infection by December 2020. Blacks and Hispanics had disproportionately higher rates of CoV-2 infections than whites.What is new?Key findingsIn this prospective convenience sampling of remnant sera, we found increasing seroprevalence from 2.6% to 7.4% (August 2020 to December 2020). Higher seroprevalence rates were found in Hispanics and Blacks or African Americans compared to whites across all time periods, and no difference was determined between those individuals from rural or urban areas.What this adds to what is knownIn a largely rural population, Blacks and Hispanics had disproportionately higher rates of CoV-2 infections than whites, and these populations need to be studied further regarding outcomes.What is the implication?There are health disparities that exist regarding CoV-2 infections, and we should target vaccination information and education to these groups.Highlights-SARS-CoV-2 infections increased from 2.6% to 7.4% from August to December 2020.-Higher seroprevalence was found in Hispanics and Blacks as compared to whites.-There was no difference in the seroprevalence in rural compared to urban areas.

OBJECTIVE: To estimate the risk of stillbirth (fetal death at 20 weeks of gestation or more) associated with specific birth defects. METHODS: We identified a population-based retrospective cohort of neonates and fetuses with selected major birth defects and without known or strongly suspected chromosomal or single-gene disorders from active birth defects surveillance programs in nine states. Abstracted medical records were reviewed by clinical geneticists to confirm and classify all birth defects and birth defect patterns. We estimated risks of stillbirth specific to birth defects among pregnancies overall and among those with isolated birth defects; potential bias owing to elective termination was quantified. RESULTS: Of 19,170 eligible neonates and fetuses with birth defects, 17,224 were liveborn, 852 stillborn, and 672 electively terminated. Overall, stillbirth risks ranged from 11 per 1,000 fetuses with bladder exstrophy (95% CI 0–57) to 490 per 1,000 fetuses with limb-body-wall complex (95% CI 368–623). Among those with isolated birth defects not affecting major vital organs, elevated risks (per 1,000 fetuses) were observed for cleft lip with cleft palate (10; 95% CI 7–15), transverse limb deficiencies (26; 95% CI 16–39), longitudinal limb deficiencies (11; 95% CI 3–28), and limb defects due to amniotic bands (110; 95% CI 68–171). Quantified bias analysis suggests that failure to account for terminations may lead to up to fourfold underestimation of the observed risks of stillbirth for sacral agenesis (13/1,000; 95% CI 2–47), isolated spina bifida (24/1,000; 95% CI 17–34), and holoprosencephaly (30/1,000; 95% CI 10–68). CONCLUSION: Birth defect-specific stillbirth risk was high compared with the U.S. stillbirth risk (6/1,000 fetuses), even for isolated cases of oral clefts and limb defects; elective termination may appreciably bias some estimates. These data can inform clinical care and counseling after prenatal diagnosis.

Background: Hypospadias is a common male birth defect that has shown widespread variation in reported prevalence estimates. Many countries have reported increasing trends over recent decades.Objective: To analyze the prevalence and trends of hypospadias for 27 international programs over a 31-yr period.Design, setting, and participants: The study population included live births, stillbirths, and elective terminations of pregnancy diagnosed with hypospadias during 1980-2010 from 27 surveillance programs around the world.Outcome measurements and statistical analysis: We used joinpoint regression to analyze changes over time in international total prevalence of hypospadias across programs, prevalence for each specific program, and prevalence across different degrees of severity of hypospadias.Results and limitations: The international total prevalence of hypospadias for all years was 20.9 (95% confidence interval: 19.2-22.6) per 10 000 births. The prevalence for each program ranged from 2.1 to 39.1 per 10 000 births. The international total prevalence increased 1.6 times during the study period, by 0.25 cases per 10 000 births per year (p Conclusions: Although there have been changes in clinical practice and registry ascertainment over time in some countries, the consistency in the observed increasing trends across many programs and by degrees of severity suggests that the total prevalence of hypospadias may be increasing in many countries. This observation is contrary to some previous reports that suggested that the total prevalence of hypospadias was no longer increasing in recent decades.Patient summary: We report on the prevalence and trends of hypospadias among 27 birth defect surveillance systems, which indicate that the prevalence of hypospadias continues to increase internationally. (C) 2019 European Association of Urology. Published by Elsevier B.V. All rights reserved.

INTRODUCTION/PURPOSE: There are no large validation trials comparing teleultrasound to on‐site ultrasound. We aim to compare the sensitivity and accuracy of teleultrasound and demonstrate that teleultrasound is not inferior to on‐site ultrasound in the pre‐natal diagnosis of fetal anomalies. METHODS: All targeted ultrasounds performed between November 2010 and December 2012 were considered. We excluded studies performed at less than 17 weeks' gestation, on multiple gestations and for reasons other than an anatomical survey. Post‐natal diagnoses were obtained from a state level mandatory birth defects surveillance programme. Descriptive statistics (sensitivity, specificity, positive and negative predictive values and accuracy) were calculated for both groups. A test of non‐inferiority was performed, with the non‐inferiority difference set at 0.15. RESULTS: The teleultrasound and on‐site ultrasound groups consisted of 2368 and 3145 studies, respectively. The sensitivity of teleultrasound and on‐site ultrasound was 57.46% and 76.57%, and the accuracy was 95.9% and 90.97%, respectively. The observed sensitivity difference was −0.1911. The accuracy, specificity, positive and negative predictive values of teleultrasound are similar to on‐site ultrasound. DISCUSSION: Teleultrasound is inferior to on‐site ultrasound in the detection of fetal anomalies; however, it has improved accuracy, as well as higher negative and positive predictive values. A negative teleultrasound is more likely to identify a non‐anomalous fetus, and a positive teleultrasound is more likely to correctly identify an anomalous fetus. CONCLUSION: Teleultrasound has an important role in pre‐natal diagnosis for those patients unable or unwilling to travel for an on‐site ultrasound.

Objective Despite heterogeneity among Pacific Islanders, most studies aggregate them regardless of origin. Thus, limited information is available about perinatal outcomes among various subgroups of Pacific Islanders in the United States, including immigrants from the Republic of the Marshall Islands. We sought to evaluate perinatal outcomes among Marshallese women. Methods We conducted a cross-sectional study of women with at least one singleton live birth between 1997 and 2013 in two Arkansas counties using birth certificate data from the Arkansas Department of Health. Unadjusted and adjusted prevalence ratios (PR) and 95% confidence intervals (CI) were calculated from modified Poisson regression models. Results Of the 91,662 singleton births in both counties during the study period, 2488 were to Marshallese women. In adjusted analyses, Marshallese women had higher prevalence of “other medical risk factors” (PR = 1.47; 95% CI 1.30, 1.65) than NH White women. Marshallese women had higher rates of precipitous labor and fetal distress during labor compared to NH White women (PR = 2.65; 95% CI 2.22, 3.17 and 1.89; 95% CI 1.62, 2.21, respectively). Marshallese were also more likely to have tocolysis (PR = 1.43; 95% CI 1.16, 1.76), forceps (PR = 1.68; 95% CI 1.16, 2.43) or vacuum (PR = 1.89; 95% CI 1.60, 2.22) used in delivery and cesarean section (PR = 1.13; 95% CI 1.01, 1.27). Marshallese infants had higher rates of anemia (PR = 3.10; 95% CI 2.01, 4.77), birth injury (PR = 2.13; 95% CI 1.50, 3.03), assisted ventilation

BACKGROUND: Recent genome-wide association studies of hypospadias have implicated the role of genetic variants in or near the diacylglycerol kinase kappa (DGKK) gene. However, these variants are largely identified among samples of mild and moderate hypospadias cases. Therefore, we evaluated previously identified DGKK variants among second- and third-degree hypospadias cases and controls recruited in Arkansas, a state characterized by a high birth prevalence of hypospadias. METHODS: Second- and third-degree hypospadias non-Hispanic white cases (n=36 and n=9, respectively) and controls (n=45) were recruited at Arkansas Children’s Hospital. Preputial tissue was collected on cases and controls between 2013 and 2017. Cases and controls were genotyped using the Illumina Infinium Global Screening Array. We used logistic regression models to assess the association of genotyped and imputed genetic variants mapped to the DGKK region with second- and third-degree hypospadias. RESULTS: All families self-reported as non-Hispanic white and genetic principal component analyses did not demonstrate evidence of population stratification. Five DGKK variants previously reported as associated with hypospadias were identified in the genotype data. None of the variants were associated with second- or third-degree hypospadias (range of odds ratios (OR) = 0.7 to 0.9, all P>0.05). CONCLUSIONS: In our analyses, genetic variation in DGKK does not play a role in the development of moderate and severe hypospadias. Our findings provide support to the etiologic heterogeneity of hypospadias by all classifications of severity.

Objective To compare third grade literacy and mathematics test proficiency among children born with gastroschisis vs unaffected controls and identify predictors of academic proficiency among these children. Study design Infants born with gastroschisis (2000-2005) were identified from the Arkansas Reproductive Health Monitoring System. For each case, 2 controls were selected at random from birth certificates and matched for hospital and month of birth, sex, and race/ethnicity. Data on rehospitalization within the first 6 years and payer data were abstracted from the Arkansas Hospital Inpatient Discharge database. Surviving cases and controls were linked to the Arkansas Department of Education database containing achievement test scores. The primary outcome was proficiency, defined as performance at or above grade level, on third grade achievement tests. Cases and controls who did not attend public schools could not be linked to education records. Multivariable logistic regression models evaluated the association between study characteristics and academic proficiency. Results The final study cohort included 47 cases and 63 controls. There was no statistically significant difference in the rate of literacy (68% vs 81%; P = .65) or mathematics proficiency (89% vs 87%; P = .15) between cases and controls. On multivariable analysis, a complex gastroschisis (defined as atresia, volvulus, necrosis, or perforation of the bowel) was associated with lower proficiency in literacy (aOR, 0.1; 95% CI, 0.02-0.58; P = .01). No neonatal or maternal characteristics predictive of lower proficiency in mathematics were identified. Conclusions Among children born with gastroschisis, the presence of a complex gastroschisis was associated with lower proficiency on third grade literacy achievement tests.

Background Esophageal atresia (EA) affects around 2.3-2.6 per 10,000 births world-wide. Infants born with this condition require surgical correction soon after birth. Most survival studies of infants with EA are locally or regionally based. We aimed to describe survival across multiple world regions.Methods We included infants diagnosed with EA between 1980 and 2015 from 24 birth defects surveillance programs that are members of the International Clearinghouse for Birth Defects Surveillance and Research. We calculated survival as the proportion of liveborn infants alive at 1 month, 1- and 5-years, among all infants with EA, those with isolated EA, those with EA and additional anomalies or EA and a chromosomal anomaly or genetic syndrome. We also investigated trends in survival over the decades, 1980s-2010s.Results We included 6,466 liveborn infants with EA. Survival was 89.4% (95% CI 88.1-90.5) at 1-month, 84.5% (95% CI 83.0-85.9) at 1-year and 82.7% (95% CI 81.2-84.2) at 5-years. One-month survival for infants with isolated EA (97.1%) was higher than for infants with additional anomalies (89.7%) or infants with chromosomal or genetic syndrome diagnoses (57.3%) with little change at 1- and 5-years. Survival at 1 month improved from the 1980s to the 2010s, by 6.5% for infants with isolated EA and by 21.5% for infants with EA and additional anomalies.Conclusions Almost all infants with isolated EA survived to 5 years. Mortality was higher for infants with EA and an additional anomaly, including chromosomal or genetic syndromes. Survival improved from the 1980s, particularly for those with additional anomalies.

OBJECTIVES: To evaluate the statewide experience in mode of delivery for pregnancies complicated by stillbirth by annual delivery volume and presence of graduate medical education programs. METHODS: This is a descriptive study of all stillbirths without known congenital anomalies or aneuploidy born in our state from July 1, 2015 to June 30, 2019. Stillbirths were ascertained by the State Reproductive Health Monitoring System, a population-based surveillance system. Stillbirths were identified by the State Reproductive Health Monitoring System from medical facilities and fetal death certificates; trained staff abstracted records. All of the stillbirths with a gestational age of >20 weeks or a birth weight of >500 g if birth weight was unknown and without congenital anomalies or aneuploidy were eligible for this study. RESULTS: There were 861 stillbirths between July 2015 through June 2019, 75 (8.7%) of which were delivered by cesarean section. Low-volume hospitals (1000 deliveries; 13.4% vs 5.5%; P < 0.0001). Before adjusting for maternal characteristics, stillbirths delivered at high-volume hospitals had a 59% lower risk of delivery by cesarean section compared with those delivered at low-volume hospitals (relative risk [RR] 0.41, 95% confidence interval 0.20–0.86, P = 0.02). The cesarean cohort had a higher proportion of Black mothers (44% vs 31.3%, P = 0.025), greater parity (P < 0.0001), and greater gravidity (P < 0.0001) compared to the vaginal group. The gestational age at delivery for stillbirths delivered by cesarean was much higher compared with those who were delivered vaginally (34.8 weeks vs 28.6 weeks; P < 0.0001). The RR of the cesarean delivery of a stillbirth at teaching institutions compared with nonteaching institutions was significantly reduced (RR 0.45, 95% confidence interval 0.28–0.73, P = 0.0011). CONCLUSIONS: Annual hospital delivery volumes and residency teaching programs in obstetrics influences the mode of delivery in the management of stillbirth. Advancing gestational age, Black race, and parity are associated with an increased risk of cesarean delivery after stillbirth.

Children with congenital heart defects (CHD) have impaired cognitive development. The objective was to determine if children with CHDs differed in academic performance during elementary and middle school years from children without CHDs. Data from the state birth defects registry, Arkansas Reproductive Health Monitoring System (ARHMS), birth certificate records, and achievement test-scores (grades 3-8) from the Arkansas Department of Education were linked using unique identifiers for children born between 2000-2011 in Arkansas. Cases were identified using 6-digit British Paediatric Association codes and matched controls were assigned from birth certificate data. Proficiency (yes/no) on achievement tests was determined using standard thresholds per grade. Data were stratified based on sex, gestational age, and birth weight. Odds ratios (OR) and 95% confidence intervals (CI) were calculated from multivariate logistic regression adjusting for maternal education level and age, race/ethnicity, and infant sex. A total of 3,730 children with CHDs and 7,385 children without CHDs were evaluated. Children with CHD were less likely to be proficient in early elementary school grades for mathematics (3rd: OR=0.72, 95% CI: 0.59, 0.87; 4th: OR=0.77, 95% CI: 0.62, 0.95) and literacy (3rd: OR=0.75, 95% CI: 0.63, 0.89; 4th: OR=0.72, 95% CI: 0.58, 0.90). The trend of being less proficient associated with CHD remained mostly consistent with sex, gestational age, and birth weight. In multivariate analysis, CHD was negatively associated with being proficient in mathematics and literacy. Maternal education (1-3 years beyond high school) was positively associated with test proficiency. Additionally, non-Hispanic (NH) black children had lower odds of being proficient compared to NH white children. Educational performance was negatively associated with CHD in early elementary grades; there was no difference in later grades. However, larger sample sizes in later grades are necessary for reliable estimates. Maternal education and race/ethnicity were significant factors associated with childhood educational performance.

BACKGROUND: Few studies have evaluated associations between birth defects and risk of pediatric cancers by age of attainment. Therefore, we assessed the risk of cancer among children with and without birth defects by age at attainment. METHODS: We examined cancer risk in children ≤14 years with and without birth defects born between 1996 and 2011 by linking data from the Arkansas Reproductive Health Monitoring System, Arkansas Central Cancer Registry, and birth certificates. Age of attainment for cancer was calculated as person-years from birth to cancer diagnosis, death, or end of study period, whichever occurred first. Using Cox proportional hazards models, we evaluated associations by attained age groups (

Background There is a persistent, unexplained disparity in sex ratio among childhood cancer cases, whereby males are more likely to develop most cancers. This male predominance is also seen for most birth defects, which are strongly associated with risk of childhood cancer. We conducted mediation analysis to estimate whether the increased risk of cancer among males is partially explained by birth defect status. Methods We used a population-based birth cohort with linked data from birth certificates, birth defects registries, and cancer registries from Arkansas, Michigan, North Carolina, and Texas. We conducted counterfactual mediation analysis to estimate the natural direct and indirect effects of sex on cancer risk, modeling birth defect status as mediator. State; birth year; plurality; and maternal race and ethnicity, age, and education were considered confounders. We conducted separate analyses limited to cancers diagnosed younger than 1 year of age. Results Our dataset included 10 181 074 children: 15 110 diagnosed with cancer, 539 567 diagnosed with birth defects, and 2124 co-occurring cases. Birth defect status mediated 38% of the association between sex and cancer overall. The proportion mediated varied by cancer type, including acute myeloid leukemia (93%), neuroblastoma (35%), and non-Hodgkin lymphoma (6%). Among children younger than 1 year of age at cancer diagnosis, the proportion mediated was substantially higher (82%). Conclusions Our results suggest that birth defects mediate a statistically significant proportion of the relationship between sex and childhood cancer. The proportion mediated varied by cancer type and diagnosis age. These findings improve our understanding of the causal pathway underlying male sex as a risk factor for childhood cancer.