Search

Introduction: In the USA each year, there are approximately 3400 sudden unexpected infant (<1 year of age) deaths (SUID) which occur without an obvious cause before an investigation. SUID includes the causes of death (COD) undetermined/unknown, sleep-related suffocation/asphyxia and sudden infant death syndrome (SIDS); these are often called SUID subtypes. Three common ways SUID subtypes are grouped (SUID subtype groups) include International Classification of Diseases (ICD) Codes, SUID Case Registry Categories or Child Death Review (CDR)-Assigned Causes. These groups are often used to monitor SUID trends and characteristics at the local, state and national levels. We describe and compare the characteristics of these three SUID subtype groups., Discussion: SUID subtype groups are distinct and not directly interchangeable. They vary in purpose, strengths, limitations, uses, history, data years available, population coverage, assigning entity, guidance documentation and information available to assign subtypes., Conclusion: Making informed decisions about which SUID subtype group to use is important for reporting statistics, increasing knowledge of SUID epidemiology and informing prevention strategies., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Introduction: Fifteen states participating in the Opioid Use Disorder, Maternal Outcomes, and Neonatal Abstinence Syndrome Initiative Learning Community (OMNI LC) developed action plan goals and activities to address the rise in opioid use disorder (OUD) among birthing persons. In a separate initiative, Perinatal Quality Collaboratives (PQCs) from 12 states participating in Centers for Disease Control and Prevention (CDC)-supported activities hosted trainings to improve the provision of OUD services and implement protocols for screening and treatment in delivery facilities., Methods: This descriptive study synthesizes qualitative data extracted from 15 OMNI LC state action plans, excerpts from qualitative interviews conducted with OMNI LC state teams, and quantitative data from quarterly project performance monitoring reports from 12 CDC-funded PQCs implementing quality improvement activities to address clinical service gaps for pregnant and postpartum people with OUD. Qualitative data were deidentified, coded as barriers or facilitators, then aggregated into emergent themes. Count data are presented for quantitative results., Results: The OMNI LC states identified a lack of coordinated care among providers, stigma toward people with OUD, discontinued insurance coverage, and inconsistencies in screening and treating birthing people with OUD as barriers to accessing quality care. State-identified facilitators for access to quality care included: 1) improving engagement and communication between providers and other partners to integrate medical and behavioral health services post-discharge, and facilitate improved patient care postpartum; 2) training providers to prescribe medications for OUD, and to address bias and reduce patient stigma; 3) extending Medicaid coverage up to one year postpartum to increase access to and continuity of services; and 4) implementing screening, brief intervention, and referral to treatment (SBIRT) in clinical practice. PQCs demonstrated that increased provider trainings to treat OUD, improvements in implementation of standardized protocols, and use of evidence-based tools can facilitate access to and coordination of services in delivery facilities., Conclusion: State-identified facilitators for increasing access to care include coordinating integrated services, extending postpartum coverage, and provider trainings to improve screening and treatment. PQCs provide a platform for identifying emerging areas for quality improvement initiatives and implementing clinical best practices to provide comprehensive, quality perinatal care for birthing populations., (Published by Elsevier Inc.)

Background: Many individuals born with congenital heart defects (CHD) survive to adulthood. However, population estimates of CHD beyond early childhood are limited in the U.S., Objectives: To estimate the percentage of individuals aged 1-to-64 years at five U.S. sites with CHD documented at a healthcare encounter during a three-year period and describe their characteristics., Methods: Sites conducted population-based surveillance of CHD among 1 to 10-year-olds (three sites) and 11 to 64-year-olds (all five sites) by linking healthcare data. Eligible cases resided in the population catchment areas and had one or more healthcare encounters during the surveillance period (January 1, 2011-December 31, 2013) with a CHD-related ICD-9-CM code. Site-specific population census estimates from the same age groups and time period were used to assess percentage of individuals in the catchment area with a CHD-related ICD-9-CM code documented at a healthcare encounter (hereafter referred to as CHD cases). Severe and non-severe CHD were based on an established mutually exclusive anatomic hierarchy., Results: Among 42,646 CHD cases, 23.7% had severe CHD and 51.5% were male. Percentage of CHD cases among 1 to 10-year-olds, was 6.36/1,000 (range: 4.33-9.96/1,000) but varied by CHD severity [severe: 1.56/1,000 (range: 1.04-2.64/1,000); non-severe: 4.80/1,000 (range: 3.28-7.32/1,000)]. Percentage of cases across all sites in 11 to 64-year-olds was 1.47/1,000 (range: 1.02-2.18/1,000) and varied by CHD severity [severe: 0.34/1,000 (range: 0.26-0.49/1,000); non-severe: 1.13/1,000 (range: 0.76-1.69/1,000)]. Percentage of CHD cases decreased with age until 20 to 44 years and, for non-severe CHD only, increased slightly for ages 45 to 64 years., Conclusion: CHD cases varied by site, CHD severity, and age. These findings will inform planning for the needs of this growing population., (Published by Elsevier Inc.)

Within a medical home, primary care providers can identify needs, provide services, and coordinate care for children with heart conditions. Using parent-reported data from the 2016-2017 National Survey of Children's Health, we examined receipt of preventive care in the last 12 months and having a medical home (care that is accessible, continuous, comprehensive, family-centred, coordinated, compassionate, and culturally effective) among US children aged 0-17 years with and without heart conditions. Using the marginal predictions approach to multivariable logistic regression, we examined associations between presence of a heart condition and receipt of preventive care and having a medical home. Among children with heart conditions, we evaluated associations between sociodemographic and health characteristics and receipt of preventive care and having a medical home. Of the 66,971 children included, 2.2% had heart conditions. Receipt of preventive care was reported for more children with heart conditions (91.0%) than without (82.7%) (adjusted prevalence ratio = 1.09, 95% confidence interval: 1.05-1.13). Less than half of children with heart conditions (48.2%) and without (49.5%) had a medical home (adjusted prevalence ratio = 1.02, 95% confidence interval: 0.91-1.14). For children with heart conditions, preventive care was slightly more common among younger children and less common among those with family incomes 200-399% of the federal poverty level. Having a medical home was less common among younger children, non-Hispanic "other" race, and those with ≥2 other health conditions. Most children with heart conditions received preventive care, but less than half had a medical home, with disparities by age, socioeconomic status, race, and concurrent health conditions. These findings highlight opportunities to improve care for children with heart conditions.

Importance: Antidepressants are commonly used during pregnancy, but limited information is available about individual antidepressants and specific birth defect risks., Objective: To examine associations between individual antidepressants and specific birth defects with and without attempts to partially account for potential confounding by underlying conditions., Design, Setting, and Participants: The population-based, multicenter case-control National Birth Defects Prevention Study (October 1997-December 2011) included cases with selected birth defects who were identified from surveillance systems; controls were randomly sampled live-born infants without major birth defects. Mothers of cases and controls participated in an interview after the expected delivery date. The data were analyzed after the completion of the National Birth Defects Prevent Study's data collection., Exposures: Self-reported antidepressant exposure was coded to indicate monotherapy exposure to antidepressants., Main Outcomes and Measures: We used multivariable logistic regression to calculate adjusted odds ratios (aORs) and 95% confidence intervals for associations between maternal antidepressant use and birth defects. We compared early pregnancy antidepressant-exposed women with those without antidepressant exposure and, to partially account for confounding by underlying maternal conditions, those exposed to antidepressants outside of the birth defect development critical period., Results: This study included 30 630 case mothers of infants with birth defects and 11 478 control mothers (aged 12-53 years). Early pregnancy antidepressant use was reported by 1562 case mothers (5.1%) and 467 control mothers (4.1%), for whom elevated aORs were observed for individual selective serotonin reuptake inhibitors (SSRIs) and selected congenital heart defects (CHD) (eg, fluoxetine and anomalous pulmonary venous return: aOR, 2.56; 95% CI, 1.10-5.93; this association was attenuated after partially accounting for underlying conditions: aOR, 1.89; 95% CI, 0.56-6.42). This pattern was observed for many SSRI-CHD combinations. Associations between SSRIs and non-CHD birth defects often persisted or strengthened after partially accounting for underlying conditions (eg, citalopram and diaphragmatic hernia: aOR, 5.11; 95% CI, 1.29-20.24). Venlafaxine had elevated associations with multiple defects that persisted after partially accounting for underlying conditions (eg, anencephaly and craniorachischisis: aOR, 9.14; 95% CI, 1.91-43.83)., Conclusions and Relevance: We found some associations between maternal antidepressant use and specific birth defects. Venlafaxine was associated with the highest number of defects, which needs confirmation given the limited literature on venlafaxine use during pregnancy and risk for birth defects. Our results suggest confounding by underlying conditions should be considered when assessing risk. Fully informed treatment decision-making requires balancing the risks and benefits of proposed interventions against those of untreated depression or anxiety.

Background: In the United States, >1 million adults are living with congenital heart defects (CHDs), but gaps exist in understanding the health care needs of this growing population., Objectives: This study assessed the demographics, comorbidities, and health care use of adults ages 20 to 64 years with CHDs., Methods: Adults with International Classification of Disease-9th Revision-Clinical Modification CHD-coded health care encounters between January 1, 2008 (January 1, 2009 for Massachusetts) and December 31, 2010 were identified from multiple data sources at 3 U.S. sites: Emory University (EU) in Atlanta, Georgia (5 counties), Massachusetts Department of Public Health (statewide), and New York State Department of Health (11 counties). Demographics, insurance type, comorbidities, and encounter data were collected. CHDs were categorized as severe or not severe, excluding cases with isolated atrial septal defect and/or patent foramen ovale., Results: CHD severity and comorbidities varied across sites, with up to 20% of adults having severe CHD and >50% having ≥1 additional cardiovascular comorbidity. Most adults had ≥1 outpatient encounters (80% EU, 90% Massachusetts, and 53% New York). Insurance type differed across sites, with Massachusetts having a large proportion of Medicaid (75%) and EU and New York having large proportions of private insurance (44% EU, 67% New York). Estimated proportions of adults with CHD-coded health care encounters varied greatly by location, with 1.2 (EU), 10 (Massachusetts), and 0.6 (New York) per 1,000 adults based on 2010 census data., Conclusions: This was the first surveillance effort of adults with CHD-coded inpatient and outpatient health care encounters in 3 U.S. geographic locations using both administrative and clinical data sources. This information will provide a clearer understanding of health care use in this growing population., (Copyright © 2020 American College of Cardiology Foundation. All rights reserved.)

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., (Published by Elsevier Inc.)

Improved treatment of congenital heart defects (CHDs) has resulted in women with CHDs living to childbearing age. However, no US population-based systems exist to estimate pregnancy frequency or complications among women with CHDs. Cases were identified in multiple data sources from 3 surveillance sites: Emory University (EU) whose catchment area included 5 metropolitan Atlanta counties; Massachusetts Department of Public Health (MA) whose catchment area was statewide; and New York State Department of Health (NY) whose catchment area included 11 counties. Cases were categorized into one of 5 mutually exclusive CHD severity groups collapsed to severe versus not severe; specific ICD-9-CM codes were used to capture pregnancy, gestational complications, and nongestational co-morbidities in women, age 11 to 50 years, with a CHD-related ICD-9-CM code. Pregnancy, CHD severity, demographics, gestational complications, co-morbidities, and insurance status were evaluated. ICD-9-CM codes identified 26,655 women with CHDs, of whom 5,672 (21.3%, range: 12.8% in NY to 22.5% in MA) had codes indicating a pregnancy. Over 3 years, age-adjusted proportion pregnancy rates among women with severe CHDs ranged from 10.0% to 24.6%, and 14.2% to 21.7% for women with nonsevere CHDs. Pregnant women with CHDs of any severity, compared with nonpregnant women with CHDs, reported more noncardiovascular co-morbidities. Insurance type varied by site and pregnancy status. These US population-based, multisite estimates of pregnancy among women with CHD indicate a substantial number of women with CHDs may be experiencing pregnancy and complications. In conclusion, given the growing adult population with CHDs, reproductive health of women with CHD is an important public health issue., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Background: Using the National Birth Defects Prevention Network (NBDPN) annual data report, U.S. national prevalence estimates for major birth defects are developed based on birth cohort 2010-2014., Methods: Data from 39 U.S. population-based birth defects surveillance programs (16 active case-finding, 10 passive case-finding with case confirmation, and 13 passive without case confirmation) were used to calculate pooled prevalence estimates for major defects by case-finding approach. Fourteen active case-finding programs including at least live birth and stillbirth pregnancy outcomes monitoring approximately one million births annually were used to develop national prevalence estimates, adjusted for maternal race/ethnicity (for all conditions examined) and maternal age (trisomies and gastroschisis). These calculations used a similar methodology to the previous estimates to examine changes over time., Results: The adjusted national birth prevalence estimates per 10,000 live births ranged from 0.62 for interrupted aortic arch to 16.87 for clubfoot, and 19.93 for the 12 critical congenital heart defects combined. While the birth prevalence of most birth defects studied remained relatively stable over 15 years, an increasing prevalence was observed for gastroschisis and Down syndrome. Additionally, the prevalence for atrioventricular septal defect, tetralogy of Fallot, omphalocele, and trisomy 18 increased in this period compared to the previous periods. Active case-finding programs generally had higher prevalence rates for most defects examined, most notably for anencephaly, anophthalmia/microphthalmia, trisomy 13, and trisomy 18., Conclusion: National estimates of birth defects prevalence provide data for monitoring trends and understanding the impact of these conditions. Increasing prevalence rates observed for selected conditions warrant further examination., (© 2019 Wiley Periodicals, Inc.)

Background: Ebstein anomaly is a rare congenital heart defect (CHD) that, when severe, requires corrective surgery or other catheter-based intervention in the first year of life. Due to its rarity, risk factors for Ebstein anomaly remain largely unknown. Using national data, we examined 18 potential risk factors for Ebstein anomaly., Methods: Using 1997-2011 data from the National Birth Defects Prevention Study, a population-based case-control study, we calculated crude and adjusted odds ratios and 95% confidence intervals for paternal age, maternal socio-demographics, reproductive history, and modifiable risk factors, and infant characteristics reported by mothers of 135 Ebstein anomaly cases and 11,829 controls., Results: Mothers of Ebstein anomaly cases had 4.1 (95% confidence interval: 1.8, 9.5) times the odds of reporting a family history of CHD compared with mothers of controls. Ebstein anomaly was associated with maternal second-hand cigarette smoke exposure at home (odds ratio = 2.2 [95% confidence interval: 1.1, 4.4]), but not maternal cigarette smoking (odds ratio = 1.3 [95% confidence interval: 0.8, 2.1]). Odds were elevated, but the 95% confidence interval included 1.0, for maternal marijuana use (odds ratio = 1.8 [95% confidence interval: 0.9, 3.8]) and paternal age ≥40 years at delivery (odds ratio = 1.9 [95% confidence interval: 1.0, 3.5])., Conclusions: Maternal exposure to second-hand cigarette smoke at home and a family history of CHD were associated with elevated odds of Ebstein anomaly. Genetic analyses could clarify the potential heritability of Ebstein anomaly.

Workers in various industries can be exposed to oil mists when oil-based fluids are aerosolized during work processes. Oil mists can be inhaled or deposited on the skin. Little research exists on the reproductive effects of oil mist exposure in pregnant workers. We aimed to investigate associations between occupational oil mist exposure in early pregnancy and a spectrum of birth defects using data from 22,011 case mothers and 8140 control mothers in the National Birth Defects Prevention Study. In total, 150 mothers were rated as exposed. Manufacturing jobs, particularly apparel manufacturing, comprised the largest groups of exposed mothers. Mothers of infants with septal heart defects (odds ratio (OR): 1.8, 95% confidence interval (CI): 1.0-3.3), and especially perimembranous ventricular septal defects (OR: 2.5, CI: 1.2-5.2), were more likely to be occupationally exposed to oil mists in early pregnancy than control mothers; and their rater-estimated cumulative exposure was more likely to be higher. This was the first U.S. study evaluating associations between oil mist exposure and a broad spectrum of birth defects. Our results are consistent with previous European studies, supporting a potential association between oil-based exposures and congenital heart defects. Further research is needed to evaluate the reproductive effects of occupational oil mist exposure.

In 2011, the U.S. Department of Health and Human Services added critical congenital heart disease (CCHD), which occurs in two of every 1,000 births, to the list of conditions recommended to states for universal newborn screening (1). Without early detection, infants with CCHD are at risk for substantial morbidity and death in the first weeks and months of life (2). Based on 2007-2013 data, deaths from CCHD and other cardiac causes in infants aged <6 months significantly declined in infants born in eight states after they had fully implemented mandated newborn CCHD screening policies by June 2013 (3). CDC collaborated with the American Academy of Pediatrics (AAP) and the Association of Public Health Laboratories' Newborn Screening Technical Assistance and Evaluation Program (NewSTEPs) to update a 2015 report (4) on states' actions toward adopting and implementing policies supporting CCHD newborn screening. In 2018, all 50 states and the District of Columbia (DC) had implemented CCHD screening policies, and, with one exception, all states mandated that screening be done (California mandates that screening be offered). However, not all states had data systems in place for tracking all screening results and outcomes. Ongoing evaluation activities, which rely on screening data, could help identify program improvement opportunities and monitor the impact of early identification of CCHD., Competing Interests: All authors have completed and submitted the ICMJE form for disclosure of potential conflicts of interest. No potential conflicts of interest were disclosed.

Background: Improved treatment of congenital heart defects (CHDs) has increased survival of persons with CHDs; however, no U.S. population-based systems exist to assess prevalence, healthcare utilization, or longer-term outcomes among adolescents and adults with CHDs., Methods: Novel approaches identified individuals aged 11-64 years who received healthcare with ICD-9-CM codes for CHDs at three sites: Emory University in Atlanta, Georgia (EU), Massachusetts Department of Public Health (MA), New York State Department of Health (NY) between January 1, 2008 (2009 for MA) and December 31, 2010. Case-finding sources included outpatient clinics; Medicaid and other claims data; and hospital inpatient, outpatient, and emergency visit data. Supplemental information came from state vital records (EU, MA), and birth defects registries (EU, NY). Demographics and diagnostic and procedural codes were linked, de-duplicated, and shared in a de-identified dataset. Cases were categorized into one of five mutually exclusive CHD severity groups; non-cardiac comorbidity codes were grouped into broad categories., Results: 73,112 individuals with CHD codes in healthcare encounters were identified. Primary data source type varied: clinics (EU, NY for adolescents), claims (MA), hospital (NY for adults). There was a high rate of missing data for some variables and data varied in format and quality. Some diagnostic codes had poor specificity for CHD ascertainment., Conclusions: To our knowledge, this is the first population-based, multi-site CHD surveillance among adolescents and adults in the U.S. Identification of people living with CHDs through healthcare encounters using multiple data sources was feasible, though data quality varied and linkage/de-duplication was labor-intensive., (© 2018 Wiley Periodicals, Inc.)

Children with heart conditions often use more health care services and specialized care than children without a heart condition (1); however, little is known about the number of U.S. children with heart conditions and their special health care needs. CDC used data from the 2016 National Survey of Children's Health (NSCH) to estimate the prevalence of heart conditions among U.S. children aged 0-17 years, which indicated that 1.3% had a current heart condition and 1.1% had a past heart condition (representing approximately 900,000 and 755,000 children, respectively). Sixty percent and 40% of children with current and past heart conditions, respectively, had one or more special health care needs, compared with 18.7% of children without a heart condition (adjusted prevalence ratios [aPRs] = 3.1 and 2.1, respectively). Functional limitations were 6.3 times more common in children with current heart conditions (30.7%) than in those without heart conditions (4.6%). Among children with current heart conditions, males, children with lower family income, and children living in other than a two-parent household had an increased prevalence of special health care needs. These findings highlight the importance of developmental surveillance and screening for children with heart conditions and might inform public health resource planning., Competing Interests: All authors have completed and submitted the ICMJE form for disclosure of potential conflicts of interest. No potential conflicts of interest were disclosed.

Objective: To examine how cognitive and motor limitations in children with heart disease are associated with education and participation in extracurricular activities., Design: Using 2009-2010 parent-reported data from the National Survey of Children with Special Health Care Needs (NS-CSHCN), we examined prevalence of five functional limitations (learning/concentration, communication, self-care, gross motor skills, and fine motor skills) by diagnosed heart disease status using chi-square tests and multivariable logistic regression. Among CSHCN with heart disease, we examined the associations between severity of each functional limitation and missing ≥11 days of school in the past year, receiving special education services, and interference with extracurricular activities., Results: CSHCN with heart disease (n = 1,416), compared to CSHCN without (n = 28,385), more commonly had "a lot" of difficulty in the five functional areas (P < .01; adjusted odds ratios: 1.8-3.3). Among CSHCN with heart disease, "a lot" of difficulty with learning/concentration was most common (35%), followed by communication (21%), self-care (14%), gross motor skills (12%), and fine motor skills (10%). Among CSHCN with heart disease, compared to those without, respectively, 27% and 15% missed ≥11 days of school, 45% and 29% received special education services, and 49% and 29% experienced interference with extracurricular activities (P < .01 for all). Level of difficulty with the five functional areas was associated with receipt of special education services and participation in extracurricular activities (P < .001)., Conclusion: These results support the American Heart Association recommendations to screen children with congenital heart disease for age-appropriate development and provide services when needed., (© 2018 Wiley Periodicals, Inc.)

Newborn screening is a public health program that benefits 4 million U.S. infants every year by enabling early detection of serious conditions, thus affording the opportunity for timely intervention to optimize outcomes (1). States and other U.S. jurisdictions decide whether and how to regulate newborn screening practices. Most newborn screening is done through laboratory analyses of dried bloodspot specimens collected from newborns. Point-of-care newborn screening is typically performed before discharge from the birthing facility. The Recommended Uniform Screening Panel includes two point-of-care conditions for newborn screening: hearing loss and critical congenital heart disease (CCHD). The objectives of point-of-care screening for these two conditions are early identification and intervention to improve neurodevelopment, most notably language and related skills among infants with permanent hearing loss, and to prevent death or severe disability resulting from delayed diagnosis of CCHD. Universal screening for hearing loss using otoacoustic emissions or automated auditory brainstem response was endorsed by the Joint Committee on Infant Hearing in 2000 and 2007* and was incorporated in the first Recommended Uniform Screening Panel in 2005. Screening for CCHD using pulse oximetry was recommended by the Advisory Committee on Heritable Disorders in Newborns and Children in 2010 based on an evidence review † and was added to the Recommended Uniform Screening Panel in 2011. § .

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., (© 2016 American Heart Association, Inc.)

The National Heart, Lung, and Blood Institute convened a working group in January 2015 to explore issues related to an integrated data network for congenital heart disease research. The overall goal was to develop a common vision for how the rapidly increasing volumes of data captured across numerous sources can be managed, integrated, and analyzed to improve care and outcomes. This report summarizes the current landscape of congenital heart disease data, data integration methodologies used across other fields, key considerations for data integration models in congenital heart disease, and the short- and long-term vision and recommendations made by the working group., (© 2016 American Heart Association, Inc.)

Objective: To examine the survival of infants with hypoplastic left heart syndrome (HLHS) and potential influence of demographic and clinical characteristics on survival using population-based data., Methods: Infants with nonsyndromic HLHS (n = 212) born between 1979 and 2005 were identified through the Metropolitan Atlanta Congenital Defects Program. Vital status was ascertained through 2009 based on linkage with vital records. We estimated Kaplan-Meier survival probabilities stratified by select demographic and clinical characteristics., Results: The overall survival probability to 2009 was 24% and significantly improved over time: from 0% in 1979-1984 to 42% in 1999-2005. Survival probability was 66% during the first week, 27% during the first year of life, and 24% during the first 10 years. Survival of very low and low birth weight or preterm infants and those born in high-poverty neighborhoods was significantly poorer. For children with information on surgical intervention (n = 88), the overall survival was 52%, and preterm infants had significantly poorer survival (31%) compared with term infants (56%). For children who survived to 1 year of age, long-term survival was ∼90%., Conclusions: Survival to adolescence of children with nonsyndromic HLHS born in metropolitan Atlanta has significantly improved in recent years, with those born full term, with normal birth weight, or in a low-poverty neighborhood having a higher survival probability. Survival beyond infancy to adolescence is high. A better understanding of the growing population of survivors with HLHS is needed to inform resource planning., (Copyright © 2015 by the American Academy of Pediatrics.)

Background: We investigated the prevalence of receipt of special education services among children with congenital heart defects (CHDs) compared with children without birth defects., Methods: Children born from 1982 to 2004 in metropolitan Atlanta with CHDs (n = 3744) were identified from a population-based birth defect surveillance program; children without birth defects (n = 860 715) were identified from birth certificates. Cohorts were linked to special education files for the 1992-2012 school years to identify special education services. Children with noncardiac defects or genetic syndromes were excluded; children with CHDs were classified by presence or absence of critical CHDs (ie, CHDs requiring intervention by age one year). We evaluated the prevalence of receipt of special education services and prevalence rate ratios using children without birth defects as a reference., Results: Compared with children without birth defects, children with CHDs were 50% more likely to receive special education services overall (adjusted prevalence rate ratio [aPRR] = 1.5; 95% confidence interval [CI]: 1.4-1.7). Specifically, they had higher prevalence of several special education categories including: intellectual disability (aPRR = 3.8; 95% CI: 2.8-5.1), sensory impairment (aPRR = 3.0; 95% CI: 1.8-5.0), other health impairment (aPRR = 2.8; 95% CI: 2.2-3.5), significant developmental delay (aPRR = 1.9; 95% CI: 1.3-2.8), and specific learning disability (aPRR = 1.4; 95% CI: 1.1-1.7). For most special education services, the excess prevalence did not vary by presence of critical CHDs., Conclusions: Children with CHDs received special education services more often than children without birth defects. These findings highlight the need for special education services and the importance of developmental screening for all children with CHDs., (Copyright © 2015 by the American Academy of Pediatrics.)

Little is known epidemiologically about laterality defects. Using data from the National Birth Defects Prevention Study (NBDPS), a large multi-site case-control study of birth defects, we analyzed prevalence and selected characteristics in children born with laterality defects born from 1998 to 2007. We identified 517 nonsyndromic cases (378 heterotaxy, 73.1%; 139 situs inversus totalis [SIT], 26.9%) resulting in an estimated birth prevalence of 1.1 per 10,000 live births (95% confidence interval 1.0–1.2). Prevalence did not differ significantly across sites, over time, or by inclusion of pregnancy termination. Laterality defects were more common among preterm cases compared to term cases, and in children born to mothers who were non-white or younger than 20 years compared to white mothers or those age 25–29 years. The distribution of associated cardiac and extra-cardiac defects, excluding the expected heterotaxy anomalies, varied by type of laterality defect. Cases with heterotaxy were significantly more likely than those with SIT to have double outlet right ventricle, atrioventricular canal defects, pulmonary stenosis, non-tetralogy of Fallot pulmonary atresia with ventricular septal defect, totally and partially anomalous pulmonary venous return; also more likely to have orofacial clefts, esophageal atresia, bowel atresias, and omphalocele, though not reaching statistical significance. Relatively more common among cases with SIT were Dandy- Walker malformation, anotia/microtia, and limb deficiency. The similarity in the demographic characteristics of heterotaxy and SIT supports the hypothesis that they are part of a continuum of abnormal left-right axis patterning. These findings on laterality defects may help guide clinical care, future research, and prevention strategies.

Methotrexate is an anti-folate medication that is associated with increased risk of multiple birth defects. Using data from the National Birth Defects Prevention Study, a case-control study of major birth defects in the United States, we examined mothers exposed to methotrexate. The study population included mothers of live-born infants without major birth defects (controls) and mothers of fetuses or infants with a major birth defect (cases), with expected dates of delivery between October 1997 and December 2009. Mothers of cases and controls were asked detailed questions concerning pregnancy history, demographic information, and exposures in a telephone interview. Approximately 0.06% (n = 16/27,623) of case and 0.04% (n = 4/10,113) of control mothers reported exposure to methotrexate between 3 months prior to conception through the end of pregnancy. Of the 16 case infants, 11 (68.8%) had a congenital heart defect (CHD). The observed CHDs included atrial septal defects, tetralogy of Fallot, valvar pulmonary stenosis, ventricular septal defects (VSDs), and total anomalous pulmonary venous return. One case infant had microtia in addition to a VSD and another had VACTER association. Exposed cases without a CHD had one of the following birth defects: cleft palate, hypospadias, congenital diaphragmatic hernia, or craniosynostosis. Based on a limited number of methotrexate-exposed mothers, our findings support recent case reports suggesting an association between early pregnancy exposure to methotrexate and CHDs. Because of the rarity of maternal periconceptional exposure to methotrexate, long-term, population-based case-control studies are needed to confirm these findings and better evaluate the association between methotrexate and birth defects., (© 2014 Wiley Periodicals, Inc.)

Background: In a recent study, high maternal periconceptional intake of vitamin E was found to be associated with risk of congenital heart defects (CHDs). To explore this association further, we investigated the association between total daily vitamin E intake and selected birth defects., Methods: We analyzed data from 4525 controls and 8665 cases from the 1997 to 2005 National Birth Defects Prevention Study. We categorized estimated periconceptional energy-adjusted total daily vitamin E intake from diet and supplements into quartiles (referent, lowest quartile). Associations between quartiles of energy-adjusted vitamin E intake and selected birth defects were adjusted for demographic, lifestyle, and nutritional factors., Results: We observed a statistically significant association with the third quartile of vitamin E intake (odds ratio [OR], 1.17; 95% confidence interval [CI], 1.01-1.35) and all CHDs combined. Among CHD sub-types, we observed associations with left ventricular outflow tract obstruction defects, and its sub-type, coarctation of the aorta and the third quartile of vitamin E intake. Among defects other than CHDs, we observed associations between anorectal atresia and the third quartile of vitamin E intake (OR, 1.66; 95% CI, 1.01-2.72) and hypospadias and the fourth quartile of vitamin E intake (OR, 1.42; 95% CI, 1.09-1.87)., Conclusion: Selected quartiles of energy-adjusted estimated total daily vitamin E intake were associated with selected birth defects. However, because these few associations did not exhibit exposure-response patterns consistent with increasing risk associated with increasing intake of vitamin E, further studies are warranted to corroborate our findings., (© 2014 Wiley Periodicals, Inc.)

Importance: Critical congenital heart disease (CCHD) was added to the Recommended Uniform Screening Panel for Newborns in the United States in 2011. Many states have recently adopted or are considering requirements for universal CCHD screening through pulse oximetry in birth hospitals. Limited previous research is directly applicable to the question of how many US infants with CCHD might be identified through screening., Objectives: To estimate the proportion of US infants with late detection of CCHD (>3 days after birth) based on existing clinical practice and to investigate factors associated with late detection., Design, Setting, and Participants: Descriptive and multivariable analysis. Data were obtained from a multisite population-based study of birth defects in the United States, the National Birth Defects Prevention Study (NBDPS). We included all live-born infants with estimated dates of delivery from January 1, 1998, through December 31, 2007, and nonsyndromic, clinically verified CCHD conditions potentially detectable through screening via pulse oximetry., Main Outcomes and Measures: The main outcome measure was the proportion of infants with late detection of CCHD through echocardiography or at autopsy under the assumption that universal screening at birth hospitals might reduce the number of such late diagnoses. Secondary outcome measures included prevalence ratios for associations between selected demographic and clinical factors and late detection of CCHD., Results: Of 3746 live-born infants with nonsyndromic CCHD, late detection occurred in 1106 (29.5% [95% CI, 28.1%-31.0%]), including 6 (0.2%) (0.1%-0.4%) first receiving a diagnosis at autopsy more than 3 days after birth. Late detection varied by CCHD type from 9 of 120 infants (7.5% [95% CI, 3.5%-13.8%]) with pulmonary atresia to 497 of 801 (62.0% [58.7%-65.4%]) with coarctation of the aorta. In multivariable analysis, late detection varied significantly by CCHD type and study site, and infants with extracardiac defects were significantly less likely to have late detection of CCHD (adjusted prevalence ratio, 0.58 [95% CI, 0.49-0.69])., Conclusions and Relevance: We estimate that 29.5% of live-born infants with nonsyndromic CCHD in the NBDPS received a diagnosis more than 3 days after birth and therefore might have benefited from routine CCHD screening at birth hospitals. The number of infants in whom CCHD was detected through screening likely varies by several factors, including CCHD type. Additional population-based studies of screening in practice are needed.

Objectives: Congenital heart defects (CHDs) occur in nearly 1% of live births. We sought to assess factors associated with prenatal CHD diagnosis in the National Birth Defects Prevention Study (NBDPS)., Methods: We analyzed data from mothers with CHD-affected pregnancies from 1998 to 2005. Prenatal CHD diagnosis was defined as affirmative responses to questions about abnormal prenatal ultrasounds and fetal echocardiography obtained during a structured telephone interview., Results: Fifteen percent (1097/7299) of women with CHD-affected pregnancies (excluding recognized syndromes and single-gene disorders) reported receiving a prenatal CHD diagnosis. Prenatal CHD diagnosis was positively associated with advanced maternal age, family history of CHD, type 1 or type 2 diabetes, twin or higher-order gestation, CHD complexity, and presence of extracardiac defects. Prenatal CHD diagnosis was inversely associated with maternal Hispanic race/ethnicity, prepregnancy overweight or obesity, and preexisting hypertension. Prenatal CHD diagnosis varied by time to NBDPS interview and NBDPS study site., Conclusions: Further work is warranted to identify reasons for the observed variability in maternal reports of prenatal CHD diagnosis and the extent to which differences in health literacy or health system factors such as access to specialized prenatal care and fetal echocardiography may account for such variability., (© 2013 John Wiley & Sons, Ltd.)

Background: Critical congenital heart disease (CCHD) was recently added to the U.S. Recommended Uniform Screening Panel for newborns. States considering screening requirements may want more information about the potential impact of screening. This study examined potentially avoidable mortality among infants with late detected CCHD and assessed whether late detection was associated with increased hospital resource use during infancy., Methods: This was a state-wide, population-based, observational study of infants with CCHD (n = 3603) born 1998 to 2007 identified by the Florida Birth Defects Registry. We examined 12 CCHD conditions that are targets of newborn screening. Late detection was defined as CCHD diagnosis after the birth hospitalization. Deaths potentially avoidable through screening were defined as those that occurred outside a hospital following birth hospitalization discharge and those that occurred within 3 days of an emergency readmission., Results: For 23% (n = 825) of infants, CCHD was not detected during the birth hospitalization. Death occurred among 20% (n = 568/2,778) of infants with timely detected CCHD and 8% (n = 66/825) of infants with late detected CCHD, unadjusted for clinical characteristics. Potentially preventable deaths occurred in 1.8% (n = 15/825) of infants with late detected CCHD (0.4% of all infants with CCHD). In multivariable models adjusted for selected characteristics, late CCHD detection was significantly associated with 52% more admissions, 18% more hospitalized days, and 35% higher inpatient costs during infancy., Conclusion: Increased CCHD detection at birth hospitals through screening may lead to decreased hospital costs and avoid some deaths during infancy. Additional studies conducted after screening implementation are needed to confirm these findings., (Copyright © 2013 Wiley Periodicals, Inc.)

Objectives: Critical congenital heart disease (CCHD) was recently added to the US Recommended Uniform Screening Panel for newborns. This study assessed whether maternal/household and infant characteristics were associated with late CCHD detection., Methods: This was a statewide, population-based, retrospective, observational study of infants with CCHD born between 1998 and 2007 identified by using the Florida Birth Defects Registry. We examined 12 CCHD conditions that are primary and secondary targets of newborn CCHD screening using pulse oximetry. We used Poisson regression models to analyze associations between selected characteristics (eg, CCHD type, birth hospital nursery level [highest level available in the hospital]) and late CCHD detection (defined as diagnosis after the birth hospitalization)., Results: Of 3603 infants with CCHD and linked hospitalizations, CCHD was not detected during the birth hospitalization for 22.9% (n = 825) of infants. The likelihood of late detection varied by CCHD condition. Infants born in a birth hospital with a level I nursery only (adjusted prevalence ratio: 1.9 [95% confidence interval: 1.6-2.2]) or level II nursery (adjusted prevalence ratio: 1.5 [95% confidence interval: 1.3-1.7]) were significantly more likely to have late-detected CCHD compared with infants born in a birth hospital with a level III (highest) nursery., Conclusions: After controlling for the selected characteristics, hospital nursery level seems to have an independent association with late CCHD detection. Thus, perhaps universal newborn screening for CCHD could be particularly beneficial in level I and II nurseries and may reduce differences in the frequency of late diagnosis between birth hospital facilities.

Objective: To evaluate the trends in survival for infants with critical congenital heart defects (CCHDs) and to examine the potential impact of timing of diagnosis and other prognostic factors on survival., Methods: We performed a retrospective population-based cohort study in infants born with structural congenital heart defects (CHDs) between 1979 and 2005 and ascertained by the Metropolitan Atlanta Congenital Defects Program. We estimated Kaplan-Meier survival probabilities for 12 CCHD phenotypes by birth era and timing of diagnosis among infants without noncardiac defects or chromosomal disorders and used stratified Cox proportional hazards models to assess potential prognostic factors., Results: Of 1 056 541 births, there were 6965 infants with CHDs (1830 with CCHDs). One-year survival was 75.2% for those with CCHDs (n = 1336) vs 97.1% for those with noncritical CHDs (n = 3530; P < .001). One-year survival for infants with CCHDs improved from 67.4% for the 1979-1993 birth era to 82.5% for the 1994-2005 era (P < .001). One-year survival was 71.7% for infants with CCHDs diagnosed at ≤1 day of age (n = 890) vs 82.5% for those with CCHDs diagnosed at >1 day of age (n = 405; P < .001). There was a significantly higher risk of 1-year mortality for infants with an earlier birth era, earlier diagnosis, and low birth weight and whose mothers were <30 years old., Conclusions: One-year survival for infants with CCHDs has been improving over time, yet mortality remains high. Later diagnosis is associated with improved 1-year survival. These benchmark data and identified prognostic factors may aid future evaluations of the impact of pulse oximetry screening on survival from CCHDs.

Background: Knowledge of patterns in prevalence of congenital heart defects (CHDs) is important for clinical care, etiologic research, and prevention. We evaluated temporal and racial/ethnic trends in the birth prevalence of CHDs in metropolitan Atlanta from 1978 to 2005., Methods: Cases of CHDs were obtained from the Metropolitan Atlanta Congenital Defects Program among live born infants, stillborn infants, and pregnancy terminations of at least 20 weeks gestation. We calculated birth prevalence per 10,000 live births and used joinpoint regression analysis to calculate the average annual percent change for total CHDs and for 23 specific subtypes in the total population and among whites and blacks. To evaluate racial/ethnic variations, we calculated prevalence ratios among blacks and Hispanics compared with whites., Results: Between 1978 and 2005, 7301 infants and fetuses with major structural CHDs were ascertained among 1,079,062 live births (67.7 per 10,000). The prevalence of all CHDs in aggregate increased from 50.3 per 10,000 in 1978-1983 to 86.4 per 10,000 in 2000-2005. The prevalence of septal defects and vascular rings increased and the prevalence of tricuspid atresia decreased, while other CHD prevalences were stable. Racial/ethnic prevalence differences were found for all CHDs combined and muscular ventricular septal defects, aortic stenosis, and atrioventricular septal defects., Conclusions: The prevalence of total CHDs, primarily common, less severe types, are increasing, with some racial/ethnic differences. Further studies could clarify the possible reasons for such variations including differences in ascertainment, risk factors, or susceptibility., (Copyright © 2013 Wiley Periodicals, Inc.)

Background: Few epidemiologic studies have investigated the use of venlafaxine (Effexor XR capsules, Product Monograph, Wyeth, Montreal, Canada), an antidepressant used to treat major depression and anxiety disorders in adults, during pregnancy. Our objective was to determine whether use of venlafaxine during pregnancy is associated with specific birth defects., Methods: We used data from the National Birth Defects Prevention Study (NBDPS), a population-based, case-control study in the United States. Our analysis included mothers with pregnancies affected by one of 30 selected birth defects (cases) and babies without birth defects (controls) with estimated dates of delivery between 1997 and 2007. Exposure was any reported use of venlafaxine from 1 month preconception through the third month of pregnancy. We calculated adjusted odds ratios (aORs) and 95% Fisher Exact confidence intervals (CIs) for 24 birth defect groups for which at least 400 case mothers were interviewed. Our adjusted analyses controlled for maternal age and race/ethnicity., Results: Among the 27,045 NBDPS participants who met inclusion criteria, 0.17% (14/8002) of control mothers and 0.40% (77/19,043) of case mothers reported any use of venlafaxine from 1 month preconception through the third month of pregnancy. Statistically significant associations were found for anencephaly, atrial septal defect (ASD) secundum, or ASD not otherwise specified, coarctation of the aorta, cleft palate, and gastroschisis., Conclusions: Our data suggest associations between periconceptional use of venlafaxine and some birth defects. However, sample sizes were small, CIs were wide, and additional studies are needed to confirm these results., (Copyright © 2012 Wiley Periodicals, Inc.)

We aimed to assess the frequency of chromosomal abnormalities among infants with congenital heart defects (CHDs) in an analysis of population-based surveillance data. We reviewed data from the Metropolitan Atlanta Congenital Defects Program, a population-based birth-defects surveillance system, to assess the frequency of chromosomal abnormalities among live-born infants and fetal deaths with CHDs delivered from January 1, 1994, to December 31, 2005. Among 4430 infants with CHDs, 547 (12.3%) had a chromosomal abnormality. CHDs most likely to be associated with a chromosomal abnormality were interrupted aortic arch (type B and not otherwise specified; 69.2%), atrioventricular septal defect (67.2%), and double-outlet right ventricle (33.3%). The most common chromosomal abnormalities observed were trisomy 21 (52.8%), trisomy 18 (12.8%), 22q11.2 deletion (12.2%), and trisomy 13 (5.7%). In conclusion, in our study, approximately 1 in 8 infants with a CHD had a chromosomal abnormality. Clinicians should have a low threshold at which to obtain testing for chromosomal abnormalities in infants with CHDs, especially those with certain types of CHDs. Use of new technologies that have become recently available (e.g., chromosomal microarray) may increase the identified contribution of chromosomal abnormalities even further.

Although maternal age has been associated with a number of birth defects in several reports, the literature on the association of maternal age with isolated congenital heart defect (CHD) phenotypes has been limited. We evaluated CHD prevalence based on a cohort of 5,289 infants and fetuses with isolated CHDs born during the period 1968-2005 and ascertained by the Metropolitan Atlanta Congenital Defects Program (MACDP) among residents of five central counties in Atlanta. For our denominator, we obtained information on births to residents of the same counties from vital records (n = 1,301,143). We calculated prevalence ratios for 23 CHD phenotypes by several maternal age categories, using the group 25-29 years of age as a reference group. We used Poisson regression models to estimate adjusted prevalence ratios (aPRs) and 95% confidence intervals (CIs), controlling for maternal race, infant sex, and birth cohort. A maternal age of 35 years or older was associated with an increased prevalence for several CHD phenotypes: laterality defects (aPR = 2.06; CI 1.22-3.48), all conotruncal defects (aPR = 1.30; CI 1.03-1.65), and specifically for dextro-transposition of the great arteries (aPR = 1.65; CI 1.10-2.48), coarctation of the aorta (aPR = 1.54; CI 1.10-2.16), ventricular septal defects (aPR = 1.20; CI 1.06-1.36), and atrial septal defects (aPR = 1.36; CI 1.05-1.77). Our findings suggest that the birth prevalence of specific isolated CHDs varies with maternal age. Further studies are warranted to corroborate these observations, taking into account potential confounding by known modifiable risk factors., (This article is a US Government work and, as such, is in the public domain in the United States of America. Published 2011 Wiley-Liss, Inc.)

Objectives: The purpose of this study was to estimate the prevalence of major and minor congenital heart defects among fetuses and neonates using sonography in a general population of 4 areas surrounding Shanghai, China., Methods: Pregnant women were recruited between April 2004 and December 2005 in Jiaxing City, Suzhou City, Changshu County, and Haining County. All participants could have 3 sonographic examinations performed by specially trained physicians regardless of medical indication: a fetal sonographic screen and fetal echocardiography between 20 and 28 weeks' gestation and neonatal echocardiography. Diagnoses of congenital heart defects were made on the basis of review of all available scans by an international group of experts in pediatric cardiology. Prevalence rates were calculated per 1000 births., Results: Among 4006 scanned fetuses and neonates, there were 75 congenital heart defects, including 12 major defects. The observed prevalence for all congenital heart defects was 18.7 (95% confidence interval, 14.8-23.5) per 1000 births, and the prevalence for major defects was 3.0 (95% confidence interval, 1.6-5.2) per 1000 births. The most common defects were ventricular septal defects (n = 47 [62.7%]), atrial septal defects (n = 14 [18.7%]), tetralogy of Fallot (n = 4 [5.3%]), and hypoplastic left heart syndrome (n = 3 [4.0%])., Conclusions: The prevalence of all congenital heart defects in the 4 areas of China studied was higher than that reported in other countries, with ventricular septal defects being the most frequent defects. Our data likely reflect a better estimate of the total prevalence of congenital heart defects in China than reported previously.

Objective: To examine associations between maternal reports of prenatal fever or influenza and congenital heart defects (CHDs), and to evaluate whether those associations varied with antipyretic use., Study Design: We analyzed case infants with CHD (n = 2361) and control infants without CHD (n = 3435) from the Baltimore-Washington Infant Study (1981-1989). Participating mothers were asked whether they experienced a "fever of 101°F or higher," had "influenza (flu)," or used an antipyretic agent (ie, acetaminophen, salicylate, or nonsteroidal anti-inflammatory drug) during the period extending from 3 months before pregnancy through the end of the third month of pregnancy. We used logistic regression to compute ORs and 95% CIs while controlling for potential confounders., Results: There were significant associations between fever and influenza and specific CHDs, namely right-sided obstructive defects (fever: OR, 2.04; 95% CI, 1.27 to 3.27; influenza: OR, 1.75; 95% CI, 1.16 to 2.62) and atrioventricular septal defects in infants with Down syndrome (fever: OR, 1.92; 95% CI, 1.10 to 3.38; influenza: OR, 1.66; 95% CI, 1.04 to 2.63). Maternal antipyretic use in the setting of fever or influenza tended to decrease these associations., Conclusions: Prenatal maternal fever or influenza may be associated with right-sided obstructive lesions in all infants and with atrioventricular septal defects in infants with Down syndrome. The use of antipyretics might attenuate such associations., (Copyright © 2011 Mosby, Inc. All rights reserved.)

Objective: We examined whether maternal opioid treatment between 1 month before pregnancy and the first trimester was associated with birth defects., Study Design: The National Birth Defects Prevention Study (1997 through 2005) is an ongoing population-based case-control study. We estimated adjusted odds ratios (ORs) and 95% confidence intervals (CIS) for birth defects categories with at least 200 case infants or at least 4 exposed case infants., Results: Therapeutic opioid use was reported by 2.6% of 17,449 case mothers and 2.0% of 6701 control mothers. Treatment was statistically significantly associated with conoventricular septal defects (OR, 2.7; 95% CI, 1.1-6.3), atrioventricular septal defects (OR, 2.0; 95% CI, 1.2-3.6), hypoplastic left heart syndrome (OR, 2.4; 95% CI, 1.4-4.1), spina bifida (OR, 2.0; 95% CI, 1.3-3.2), or gastroschisis (OR, 1.8; 95% CI, 1.1-2.9) in infants., Conclusion: Consistent with some previous investigations, our study shows an association between early pregnancy maternal opioid analgesic treatment and certain birth defects. This information should be considered by women and their physicians who are making treatment decisions during pregnancy., (Published by Mosby, Inc.)

Nonsyndromic atrioventricular septal defects (AVSDs) are serious congenital heart defects for which information on prevalence and descriptive characteristics based on large, geographically, and ethnically diverse populations has been limited. To describe the birth prevalence and phenotype of nonsyndromic AVSDs, we used data from the National Birth Defects Prevention Study (NBDPS), a multisite, population-based case-control study aimed at identifying genetic and environmental risk factors for birth defects. For this analysis, infants born during the period 1997-2005 and meeting the NBDPS case definition for AVSDs were included. Infants with an AVSD associated with recognized or strongly suspected chromosomal abnormalities or single-gene disorders (syndromic case infants) were excluded. We identified 302 infants with a nonsyndromic AVSD for a birth prevalence of 0.83/10,000 livebirths. Over 20% of infants with an AVSD had an additional major birth defect, with gastrointestinal, renal or urinary, and central nervous system defects being the most common. A lower prevalence of AVSDs was seen among infants born to Hispanic mothers compared with those born to non-Hispanic White mothers [prevalence ratio = 0.63 (95% confidence interval: 0.46-0.86)]. Understanding the prevalence of nonsyndromic AVSDs, demographic factors associated with their occurrence, and associated defects could help guide clinical care, as well as contribute to a better understanding of pathogenesis., (Copyright © 2011 Wiley-Liss, Inc.)

Objective: To examine the variation in survival in infants with atrioventricular septal defects (AVSD) with demographic factors and clinical characteristics, including the presence of Down syndrome., Study Design: We selected infants with all types of AVSD with Down syndrome (n = 177) and without Down syndrome (n = 161), born between Jan 1, 1979, and Dec 31, 2003 and identified through the Metropolitan Atlanta Congenital Defects Program (MACDP). Infants were classified by the complexity of their cardiac defects and presence of major non-cardiac malformations. Deaths (n = 111) were identified through 2004 with linkage with state vital records and the National Death Index. Kaplan-Meier survival probabilities and adjusted hazard ratios (HRs) were calculated in relation to demographic and clinical characteristics., Results: Children with AVSD and Down syndrome had a similar overall survival probability (70%) as those without Down syndrome (69%). Mortality was higher in children with a complex AVSD (adjusted HR = 7.0; 95% CI, 3.1-15.5) and in children with > or =2 major non-cardiac malformations (adjusted HR = 3.4; 95% CI, 1.8-6.5) and was lower in children in the 1992 to 2003 birth cohort (adjusted HR = 0.6; 95% CI, 0.4-0.998)., Conclusions: Down syndrome was not a prognostic factor. Our findings might be helpful in assessing the long-term prognosis of infants with AVSD., (Copyright 2010 Mosby, Inc. All rights reserved.)

Background: Congenital rubella syndrome (CRS) has long been characterized by the triad of deafness, cataract, and cardiovascular malformations (CVMs). While initial reports identified patent ductus arteriosus (PDA) as the primary CVM in CRS, the exact nature of the CVMs found in CRS has not been well established., Methods: We searched the English literature from 1941 through 2008 to identify studies that used cardiac catheterization or echocardiography to evaluate the CVMs in CRS., Results: Of the 121 patients in the 10 studies with catheterization data, 78% had branch pulmonary artery stenosis, and 62% had a PDA. In 49% of cases, both branch pulmonary artery stenosis and PDA were present, whereas isolated branch pulmonary artery stenosis and isolated PDA were found in 29 and 13% of cases, respectively. Of the 12 patients in the 10 studies with echocardiographic data, PDA was more common than branch pulmonary artery stenosis, but this finding is greatly limited by the small numbers of patients and limitations of echocardiography. Although published studies of CVMs in CRS have in general reported PDA as the CVM phenotype most commonly associated with CRS, among CRS cases evaluated by catheterization, branch pulmonary artery stenosis was actually more common than PDA. Moreover, although the combination of branch pulmonary artery stenosis and PDA was more common than either branch pulmonary artery stenosis or PDA alone, isolated branch pulmonary artery stenosis was twice as common as isolated PDA., Conclusion: Among children with suspected CRS, clinical evaluations for the presence of CVMs should include examinations for both branch pulmonary artery stenosis and PDA., (Copyright 2009 Wiley-Liss, Inc.)

Objective: To determine an accurate estimate of the prevalence of congenital heart defects (CHD) using current standard diagnostic modalities., Study Design: We obtained data on infants with CHD delivered during 1998 to 2005 identified by the Metropolitan Atlanta Congenital Defects Program, an active, population-based, birth defects surveillance system. Physiologic shunts in infancy and shunts associated with prematurity were excluded. Selected infant and maternal characteristics of the cases were compared with those of the overall birth cohort., Results: From 1998 to 2005 there were 398 140 births, of which 3240 infants had CHD, for an overall prevalence of 81.4/10 000 births. The most common CHD were muscular ventricular septal defect, perimembranous ventricular septal defect, and secundum atrial septal defect, with prevalence of 27.5, 10.6, and 10.3/10 000 births, respectively. The prevalence of tetralogy of Fallot, the most common cyanotic CHD, was twice that of transposition of the great arteries (4.7 vs 2.3/10 000 births). Many common CHD were associated with older maternal age and multiple-gestation pregnancy; several were found to vary by sex., Conclusions: This study, using a standardized cardiac nomenclature and classification, provides current prevalence estimates of the various CHD subtypes. These estimates can be used to assess variations in prevalence across populations, time, or space.

Background: One of the challenges in epidemiologic studies of congenital heart defects (CHDs) has been the lack of a current, standard nomenclature and classification system. Recently such a standard nomenclature became available from the Society of Thoracic Surgeons (STS) Congenital Heart Surgery Database. This study reports the classification of cases of CHDs in a birth defects surveillance database using modified STS nomenclature., Methods: Records of infants and fetuses in the Metropolitan Atlanta Congenital Defects Program delivered during 1968-2003 with CHD diagnoses were reviewed by a team of pediatric cardiologists. The cases were assigned one or more STS codes and subsequently grouped into successively broader levels of aggregation. Aggregation was based on presumed morphogenetically similar developmental mechanisms., Results: There were 12,639 cases reviewed, of which 89% had a single, primary STS code. Structural CHDs were found in 7,749 infants, while 4,890 were considered to have structurally normal hearts. Application of clinical CHD nomenclature improved the clinical accuracy of surveillance data by eliminating normal physiologic variants and obligatory shunt lesions. Classification also aggregated specific CHDs into groups appropriate for research and surveillance., Conclusions: Application of a current, standard CHD nomenclature and classification system to cases in a birth defects surveillance database improves the specificity of cardiac diagnoses and allows for the development of a flexible case aggregation system for monitoring of CHD prevalence.

Background: Classification and analysis of congenital heart defects (CHD) in etiologic studies is particularly challenging because of diversity of cardiac phenotypes and underlying developmental mechanisms. We describe an approach to classification for risk assessment of CHD based on developmental and epidemiologic considerations, and apply it to data from the National Birth Defect Prevention Study (NBDPS)., Methods: The classification system incorporated the three dimensions of cardiac phenotype, cardiac complexity, and extracardiac anomalies. The system was designed to facilitate the assessment of simple isolated defects and common associations. A team with cardiologic expertise applied the system to a large sample from the NBDPS., Results: Of the 4,703 cases of CHDs in the NBDPS with birth years 1997 through 2002, 63.6% were simple, isolated cases. Specific associations of CHDs represented the majority of the remainder. The mapping strategy generated relatively large samples for most cardiac phenotypes and provided enough detail to isolate important subgroups of CHDs that may differ by etiology or mechanism., Conclusions: Classification of CHDs that considers cardiac and extracardiac phenotypes is practically feasible, and yields manageable groups of well-characterized phenotypes. Although best suited for large studies, this approach to classification and analysis can be a flexible and powerful tool in many types of etiologic studies of heart defects.