Understanding three approaches to reporting sudden unexpected infant death in the USA.

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.

Individuals aged 1-64 years with documented congenital heart defects at healthcare encounters, five U.S. surveillance sites, 2011-2013.

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.

Preventive care and medical homes among US children with heart conditions.

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.

Rationale and design of CH STRONG: Congenital Heart Survey To Recognize Outcomes, Needs, and well-beinG.

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 χ2 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.

Actions in Support of Newborn Screening for Critical Congenital Heart Disease - United States, 2011-2018.

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.

Potential risk factors for Ebstein anomaly, National Birth Defects Prevention Study, 1997-2011.

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.

Children with Heart Conditions and Their Special Health Care Needs - United States, 2016.

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.

Congenital Heart Defects in the United States: Estimating the Magnitude of the Affected Population in 2010.

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.

Report of the National Heart, Lung, and Blood Institute Working Group: An Integrated Network for Congenital Heart Disease Research.

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.

CDC Grand Rounds: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease.

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.§.

Maternal exposure to methotrexate and birth defects: a population-based study.

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.

Laterality defects in the national birth defects prevention study (1998-2007): birth prevalence and descriptive epidemiology.

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 1.0­1.2). 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 25­29 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.

Maternal intake of vitamin E and birth defects, national birth defects prevention study, 1997 to 2005.

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.

Prenatal diagnosis of nonsyndromic congenital heart defects.

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.

Increasing access to quality care for pregnant and postpartum people with opioid use disorder: Coordination of services, provider awareness and training, extended postpartum coverage, and perinatal quality collaboratives.

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.

Patterns in the prevalence of congenital heart defects, metropolitan Atlanta, 1978 to 2005.

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.

Association between reported venlafaxine use in early pregnancy and birth defects, national birth defects prevention study, 1997-2007.

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.

Hospitalizations, costs, and mortality among infants with critical congenital heart disease: how important is timely detection?

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.

Analysis of selected maternal exposures and non-syndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997-2005.

Although the descriptive epidemiology of atrioventricular septal defects (AVSDs), a group of serious congenital heart defects (CHDs), has been recently reported, non-genetic risk factors have not been consistently identified. Using data (1997-2005) from the National Birth Defects Prevention Study, an ongoing multisite population-based case-control study, the association between selected non-genetic factors and non-syndromic AVSDs was examined. Data on periconceptional exposures to such factors were collected by telephone interview from 187 mothers of AVSD case infants and 6,703 mothers of unaffected infants. Adjusted odds ratios (aORs) and 95% confidence intervals (CIs) were estimated from logistic regression models. Mothers who reported cigarette smoking during the periconceptional period were more likely to have infants with AVSDs compared with non-smokers, independent of maternal age, periconceptional alcohol consumption, infant gestational age, family history of CHDs, and study site (aOR 1.5, 95% CI 1.1-2.4). The association was strongest in mothers who smoked more than 25 cigarettes/day. In addition, mothers with periconceptional passive smoke exposure were more likely to have infants with AVSDs than unexposed mothers, independent of maternal age, active periconceptional smoking, infant gestational age, and family history of CHDs (aOR 1.4, 95% CI 1.0-2.0). No associations were observed between AVSDs and maternal history of a urinary tract infection or pelvic inflammatory disease, maternal use of a wide variety of medications, maternal occupational exposure, parental drug use, or maternal alcohol consumption. If the results of this preliminary study can be replicated, minimizing maternal active and passive smoke exposure may decrease the incidence of AVSDs.

Lack of periconceptional vitamins or supplements that contain folic acid and diabetes mellitus-associated birth defects.

OBJECTIVE: The purpose of this study was to examine the risk of birth defects in relation to diabetes mellitus and the lack of use of periconceptional vitamins or supplements that contain folic acid. STUDY DESIGN: The National Birth Defects Prevention Study (1997-2004) is a multicenter, population-based case-control study of birth defects (14,721 cases and 5437 control infants). Cases were categorized into 18 types of heart defects and 26 noncardiac birth defects. We estimated odds ratios for independent and joint effects of preexisting diabetes mellitus and a lack of periconceptional use of vitamins or supplements that contain folic acid. RESULTS: The pattern of odds ratios suggested an increased risk of defects that are associated with diabetes mellitus in the absence vs the presence of the periconceptional use of vitamins or supplements that contain folic acid. CONCLUSION: The lack of periconceptional use of vitamins or supplements that contain folic acid may be associated with an excess risk for birth defects due to diabetes mellitus.