Search

BackgroundGlobal 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.MethodsIn 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).ResultsSeveral 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.ConclusionsIn 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.

Objective Bladder exstrophy (BE) is a rare but severe birth defect affecting the lower abdominal wall and genitourinary system. The objective of the study is to examine the total prevalence, trends in prevalence, and age-specific mortality among individuals with BE. Study Design We conducted a retrospective cohort study. Data were analyzed from 20 birth defects surveillance programs, members of the International Clearinghouse for Birth Defects Surveillance and Research in 16 countries. Live births, stillbirths, and elective terminations of pregnancy for fetal anomaly (ETOPFA) diagnosed with BE from 1974 to 2014. Pooled and program-specific prevalence of BE per 100,000 total births was calculated. The 95% confidence intervals (CI) for prevalence were estimated using Poisson approximation of binomial distribution. Time trends in prevalence of BE from 2000 to 2014 were examined using Poisson regression. Proportion of deaths among BE cases was calculated on the day of birth, day 2 to 6, day 7 to 27, day 28 to 364, 1 to 4 years, and ≥5 years. Mortality analysis was stratified by isolated, multiple, and syndromic case status. Results The pooled total prevalence of BE was 2.58 per 100,000 total births (95% CI = 2.40, 2.78) for study years 1974 to 2014. Prevalence varied over time with a decreasing trend from 2000 to 2014. The first-week mortality proportion was 3.5, 17.3, and 14.6% among isolated, multiple, and syndromic BE cases, respectively. The majority of first-week mortality occurred on the first day of life among isolated, multiple, and syndromic BE cases. The proportion of first-week deaths was higher among cases reported from programs in Latin America where ETOPFA services were not available. Conclusion Prevalence of BE varied by program and showed a decreasing trend from 2000 to –2014. Mortality is a concern among multiple and syndromic cases, and a high proportion of deaths among cases occurred during the first week of life. Key Points Total prevalence of BE was 2.58 per 100,000 births. Prevalence decreased from 2000 to 2014. The first-week mortality was 9.3%. [ABSTRACT FROM AUTHOR]

Background: There are few assessments evaluating associations between birth defects with neural crest cell developmental origins (BDNCOs) and embryonal tumors, which are characterized by undifferentiated cells having a molecular profile similar to neural crest cells. The effect of BDNCOs on embryonal tumors was estimated to explore potential shared etiologic pathways and genetic origins. Methods: With the use of a multistate, registry‐linkage cohort study, BDNCO–embryonal tumor associations were evaluated by generating hazard ratios (HRs) and 95% confidence intervals (CIs) with Cox regression models. BDNCOs consisted of ear, face, and neck defects, Hirschsprung disease, and a selection of congenital heart defects. Embryonal tumors included neuroblastoma, nephroblastoma, and hepatoblastoma. Potential HR modification (HRM) was investigated by infant sex, maternal race/ethnicity, maternal age, and maternal education. Results: The risk of embryonal tumors among those with BDNCOs was 0.09% (co‐occurring n = 105) compared to 0.03% (95% CI, 0.03%–0.04%) among those without a birth defect. Children with BDNCOs were 4.2 times (95% CI, 3.5–5.1 times) as likely to be diagnosed with an embryonal tumor compared to children born without a birth defect. BDNCOs were strongly associated with hepatoblastoma (HR, 16.1; 95% CI, 11.3–22.9), and the HRs for neuroblastoma (3.1; 95% CI, 2.3–4.2) and nephroblastoma (2.9; 95% CI, 1.9–4.4) were elevated. There was no notable HRM by the aforementioned factors. Conclusions: Children with BDNCOs are more likely to develop embryonal tumors compared to children without a birth defect. Disruptions of shared developmental pathways may contribute to both phenotypes, which could inform future genomic assessments and cancer surveillance strategies of these conditions. Associations between nonchromosomal birth defects of neural crest cell developmental origins and pediatric embryonal tumors were investigated based on potential shared developmental pathways. With the use of data from a multistate, registry‐linkage cohort study, children born with these birth defects were found to be more likely (hazard ratio, 4.2; 95% CI, 3.5–5.1) to be diagnosed with the selected embryonal tumors than children without a birth defect, especially hepatoblastoma (hazard ratio, 16.1; 95% CI, 11.3–22.9). [ABSTRACT FROM AUTHOR]

BACKGROUND: Limited population-based information is available on long-term survival of US individuals with congenital heart defects (CHDs). Therefore, we assessed patterns in survival from birth until young adulthood (ie, 35 years of age) and associated factors among a population-based sample of US individuals with CHDs. METHODS: Individuals born between 1980 and 1997 with CHDs identified in 3 US birth defect surveillance systems were linked to death records through 2015 to identify those deceased and the year of their death. Kaplan-Meier survival curves, adjusted risk ratios (aRRs) for infant mortality (ie, death during the first year of life), and Cox proportional hazard ratios for survival after the first year of life (aHRs) were used to estimate the probability of survival and associated factors. Standardized mortality ratios compared infant mortality, >1-year mortality, >10-year mortality, and >20-year mortality among individuals with CHDs with general population estimates. RESULTS: Among 11 695 individuals with CHDs, the probability of survival to 35 years of age was 81.4% overall, 86.5% among those without co-occurring noncardiac anomalies, and 92.8% among those who survived the first year of life. Characteristics associated with both infant mortality and reduced survival after the first year of life, respectively, included severe CHDs (aRR=4.08; aHR=3.18), genetic syndromes (aRR=1.83; aHR=3.06) or other noncardiac anomalies (aRR=1.54; aHR=2.53), low birth weight (aRR=1.70; aHR=1.29), and Hispanic (aRR=1.27; aHR=1.42) or non-Hispanic Black (aRR=1.43; aHR=1.80) maternal race and ethnicity. Individuals with CHDs had higher infant mortality (standardized mortality ratio=10.17), >1-year mortality (standardized mortality ratio=3.29), and >10-year and >20-year mortality (both standardized mortality ratios -1.5) than the general population; however, after excluding those with noncardiac anomalies, >1-year mortality for those with nonsevere CHDs and >10-year and >20-year mortality for those with any CHD were similar to the general population. CONCLUSIONS: Eight in 10 individuals with CHDs born between1980 and 1997 survived to 35 years of age, with disparities by CHD severity, noncardiac anomalies, birth weight, and maternal race and ethnicity. Among individuals without noncardiac anomalies, those with nonsevere CHDs experienced similar mortality between 1 and 35 years of age as in the general population, and those with any CHD experienced similar mortality between 10 and 35 years of age as in the general population. [ABSTRACT FROM AUTHOR]

The lack of United States population‐based data on Turner syndrome limits assessments of prevalence and associated characteristics for this sex chromosome abnormality. Therefore, we collated 2000–2017 data from seven birth defects surveillance programs within the National Birth Defects Prevention Network. We estimated the prevalence of karyotype‐confirmed Turner syndrome diagnosed within the first year of life. We also calculated the proportion of cases with commonly ascertained birth defects, assessed associations with maternal and infant characteristics using prevalence ratios (PR) with 95% confidence intervals (CI), and estimated survival probability. The prevalence of Turner syndrome of any pregnancy outcome was 3.2 per 10,000 female live births (95% CI = 3.0–3.3, program range: 1.0–10.4), and 1.9 for live birth and stillbirth (≥20 weeks gestation) cases (95% CI = 1.8–2.1, program range: 0.2–3.9). Prevalence was lowest among cases born to non‐Hispanic Black women compared to non‐Hispanic White women (PR = 0.5, 95% CI = 0.4–0.6). Coarctation of the aorta was the most common defect (11.6% of cases), and across the cohort, individuals without hypoplastic left heart had a five‐year survival probability of 94.6%. The findings from this population‐based study may inform surveillance practices, prenatal counseling, and diagnosis. We also identified racial and ethnic disparities in prevalence, an observation that warrants further investigation. [ABSTRACT FROM AUTHOR]

Background: The proportion of deaths attributed to various causes has not been quantified among infants with birth defects. We sought to describe the causes of neonatal and postneonatal death among infants in the Texas Birth Defects Registry. Methods: We calculated frequencies and percentages for both underlying causes and all causes (underlying or contributing) of neonatal (0–27 days) and postneonatal (28–364 days) death listed on death certificates among infants born alive with birth defects and delivered in Texas during 1999–2013 (n = 8,389 deaths). Analyses were repeated separately for infants with isolated, multiple, and syndromic defects. Results: After birth defects, the most frequently listed causes of neonatal death were preterm/low birth weight (10%), circulatory system diseases (8%), and sepsis (5%). The leading postneonatal causes of death beyond birth defects were circulatory system diseases (32%), sepsis (11%), and renal failure (7%). Conclusions: Improved understanding of the causes of mortality among infants with birth defects may help identify priorities for postnatal care. Our results suggest that potentially modifiable causes of death (e.g., circulatory system diseases, sepsis) contribute substantially to mortality in this population. Prioritizing continued improvements in prevention, diagnosis, and management of preventable conditions may reduce mortality among infants born with birth defects. [ABSTRACT FROM AUTHOR]

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 < 0.001), including neuroblastoma (12.5% vs 8.2%; q < 0.001) and hepatoblastoma (5.0% vs 1.3%; q < 0.001), but fewer hematologic malignancies, including acute lymphoblastic leukemia (12.4% vs 24.4%; q < 0.001). In age-stratified analyses, differences in tumor type were evident among children younger than 1 year and children 1 to 4 years old, but they were attenuated among children 5 years of age or older. The age at diagnosis was younger in children with birth defects for most cancers, including leukemia, lymphoma, astrocytoma, medulloblastoma, ependymoma, embryonal tumors, and germ cell tumors (all q < 0.05).Conclusions: The results indicate possible etiologic heterogeneity in children with birth defects, have implications for future surveillance efforts, and raise the possibility of differential cancer ascertainment in children with birth defects.Lay Summary: Scientific studies suggest that children with birth defects are at increased risk for cancer. However, these studies have not been able to determine whether important tumor characteristics, such as the type of tumor diagnosed, the age at which the tumor is diagnosed, and the degree to which the tumor has spread at the time of diagnosis, are different for children with birth defects and children without birth defects. This study attempts to answer these important questions. By doing so, it may help scientists and physicians to understand the causes of cancer in children with birth defects and diagnose cancer at earlier stages when it is more treatable. [ABSTRACT FROM AUTHOR]

Background: Medical advancements have resulted in better survival and life expectancy among those with spina bifida, but a significantly increased risk of perinatal and postnatal mortality for individuals with spina bifida remains.Objectives: To examine stillbirth and infant and child mortality among those affected by spina bifida using data from multiple countries.Methods: We conducted an observational study, using data from 24 population- and hospital-based surveillance registries in 18 countries contributing as members of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). Cases of spina bifida that resulted in livebirths or stillbirths from 20 weeks' gestation or elective termination of pregnancy for fetal anomaly (ETOPFA) were included. Among liveborn spina bifida cases, we calculated mortality at different ages as number of deaths among liveborn cases divided by total number of liveborn cases with spina bifida. As a secondary outcome measure, we estimated the prevalence of spina bifida per 10 000 total births. The 95% confidence interval for the prevalence estimate was estimated using the Poisson approximation of binomial distribution.Results: Between years 2001 and 2012, the overall first-week mortality proportion was 6.9% (95% CI 6.3, 7.7) and was lower in programmes operating in countries with policies that allowed ETOPFA compared with their counterparts (5.9% vs. 8.4%). The majority of first-week mortality occurred on the first day of life. In programmes where information on long-term mortality was available through linkage to administrative databases, survival at 5 years of age was 90%-96% in Europe, and 86%-96% in North America.Conclusions: Our multi-country study showed a high proportion of stillbirth and infant and child deaths among those with spina bifida. Effective folic acid interventions could prevent many cases of spina bifida, thereby preventing associated childhood morbidity and mortality. [ABSTRACT FROM AUTHOR]

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 = 0.7–0.9, all p > .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. [ABSTRACT FROM AUTHOR]

Background The Birth Defects Study To Evaluate Pregnancy exposureS (BD-STEPS) is a population-based, multi-Center case-control study of modifiable risk factors for selected birth defects in the United States. BD-STEPS is the second major research effort of the Centers for Birth Defects Research and Prevention, which extends and expands the initial research effort, the National Birth Defects Prevention Study (NBDPS). Methods BD-STEPS focuses on 17 categories of structural birth defects selected based on severity, prevalence, consistent ascertainment, and previous findings that warrant additional research. Cases are identified through existing birth defects surveillance programs; controls are from vital records or birth hospital logs from the same catchment area. BD-STEPS uses a standardized computer-assisted telephone interview to collect information from case and control mothers on topics including demographics, health conditions, and medication use. Following the maternal interview, selected Centers request permission to sample residual newborn screening blood spots from state repositories for genetic analyses. New components planned for BD-STEPS include linkages with external datasets and use of online questionnaires to collect in-depth information on selected exposures. Results BD-STEPS extends NBDPS by continuing to collect data on many exposures that were assessed in NBDPS, allowing data from both studies to be combined and providing an unprecedented sample size to analyze rare exposures. BD-STEPS expands upon NBDPS by collecting more detailed information on existing exposures as well as new exposures. Conclusion The goal of BD-STEPS is to provide women and healthcare providers with information they need to make decisions to promote the healthiest pregnancy possible. Birth Defects Research (Part A) 103:733-740, 2015. © 2015 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

The article discusses whether residential pesticide use is associated with an increase use of self reported respiratory syptoms in children and whether the method and location of residential pesticide application effects that association. It reflects on various methods including study population, covariates and statistical analysis. It mentions that the study finds that the pesticide use in the home overall was weakly associated with respiratory symptoms in the United States in children below 18 years of age.It suggests that public health intervention with regard to respiratory health effects of residential pesticides should focus not only on types of pesticides applied but also on the location and method of pesticide application.

Background Our purpose was to determine the prevalence of specific types of CHD among non-Hispanic (NH)-Black, NH-White, and Hispanic infants. Methods We conducted a retrospective cohort study with 9,352 singleton infants diagnosed with conotruncal, right or left obstructive or septal CHDs from the Florida Birth Defects Registry, born 1998–2003 to resident NH-White, NH-Black, and Hispanic women aged 15–49. Defect-specific prevalence rates, prevalence ratios and P-values were calculated for each type of CHD and by number of defects for each racial/ethnic group. Results Compared to NH-Whites, NH-Blacks had higher rates of pulmonary valve atresia/stenosis but lower frequency of aortic valve atresia/stenosis and ventricular septal defect. Hispanics had lower rates of aortic valve atresia/stenosis and atrioventricular septal defects than NH-Whites. Conclusions Although few racial/ethnic differences in prevalence are present among infants with major CHD, observed differences are clinically meaningful. However, the underlying etiologies for the observed differences remain unknown. [ABSTRACT FROM AUTHOR]

Background: Congenital heart defects (CHD) are the most common birth defect and are a major cause of childhood illness and death. Recent progress in management of persons with CHD may have decreased CHD-related mortality. Methods: Year 2000 US death records were used to determine CHD-related mortality by age, sex, and race/ethnicity in children and adults. CHD-related mortality was defined as all deaths with any mention of CHD on the death certificate. Age-, sex-, and racial/ethnic-specific population counts were obtained from the 2000 US Census and used as denominators in mortality rates. Results: In 2000 there were 5441 (.23%) CHD-related deaths and CHDs were mentioned 6121 times as the underlying or contributing cause of death. In 68.4% of CHD-related deaths, CHD was the underlying cause of death. Non-Hispanic Black males had greater risk of CHD-related death than did non-Hispanic White males (RR 1.25, 95% Cl 1.08-1.45). Both Hispanic males and females had lower rates of CHD-related deaths than did non-Hispanic Whites (RR .72, 95% CI .60-.85; RR .52, 95% Cl .42-.65, respectively). "Unspecified congenital malformation of the heart" was the most common cause of death overall; however, "malformation of the coronary vessels" was most often a cause of death for non-Hispanic Blacks and children aged 10-19 years. Conclusions: Racial/ethnic differences in CHD-related mortality exist in the United States. Management of CHD, access to adequate care, and misclassification in cause of death reporting on death records may explain the observed differences. [ABSTRACT FROM AUTHOR]

A letter to the editor is presented in response to the article "Within-person study designs had lower precision and greater susceptibility to bias because of trends in exposure than cohort and nested case-control designs," in a previous issue of the periodical.

Background: Because of advancements in care, there has been a decline in mortality from congenital heart defects (CHDs) over the past several decades. However, there are no current empirical data documenting the number of people living with CHDs in the United States. Our aim was to estimate the CHD prevalence across all age groups in the United States in the year 2010.Methods: The age-, sex-, and severity-specific observed prevalence of CHDs in Québec, Canada, in the year 2010 was assumed to equal the CHD prevalence in the non-Hispanic white population in the United States in 2010. A race-ethnicity adjustment factor, reflecting differential survival between racial-ethnic groups through 5 years of age for individuals with a CHD and that in the general US population, was applied to the estimated non-Hispanic white rates to derive CHD prevalence estimates among US non-Hispanic blacks and Hispanics. Confidence intervals for the estimated CHD prevalence rates and case counts were derived from a combination of Taylor series approximations and Monte Carlo simulation.Results: We estimated that ≈2.4 million people (1.4 million adults, 1 million children) were living with CHDs in the United States in 2010. Nearly 300 000 of these individuals had severe CHDs.Conclusions: Our estimates highlight the need for 2 important efforts: planning for health services delivery to meet the needs of the growing population of adults with CHD and the development of surveillance data across the life span to provide empirical estimates of the prevalence of CHD across all age groups in the United States. [ABSTRACT FROM AUTHOR]