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Racial and ethnic differences in the proportion of Medicaid patients who receive epidural analgesia during labor and delivery were measured. It was found that out of 29,833 women who met our inclusion criteria, 15,936 were found to have epidural analgesia and that the rural women had lower epidural analgesia rates (39.2%) than urban women (62.1%).

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

IMPORTANCE: Birth defects affect approximately 1 in 33 children. Some birth defects are known to be strongly associated with childhood cancer (eg, trisomy 21 and acute leukemia). However, comprehensive evaluations of childhood cancer risk in those with birth defects have been limited in previous studies by insufficient sample sizes. OBJECTIVES: To identify specific birth defect–childhood cancer (BD-CC) associations and characterize cancer risk in children by increasing number of nonchromosomal birth defects. DESIGN, SETTING, AND PARTICIPANTS: This multistate, population-based registry linkage study pooled statewide data on births, birth defects, and cancer from Texas, Arkansas, Michigan, and North Carolina on 10 181 074 children born from January 1, 1992, to December 31, 2013. Children were followed up to 18 years of age for a diagnosis of cancer. Data were retrieved between September 26, 2016, and September 21, 2017, and data analysis was performed from September 2, 2017, to March 21, 2019. EXPOSURES: Birth defects diagnoses (chromosomal anomalies and nonchromosomal birth defects) recorded by statewide, population-based birth defects registries. MAIN OUTCOMES AND MEASURES: Cancer diagnosis before age 18 years, as recorded in state cancer registries. Cox regression models were used to generate hazard ratios (HRs) and 95% CIs to evaluate BD-CC associations and the association between number of nonchromosomal defects and cancer risk. RESULTS: Compared with children without any birth defects, children with chromosomal anomalies were 11.6 (95% CI, 10.4-12.9) times more likely to be diagnosed with cancer, whereas children with nonchromosomal birth defects were 2.5 (95% CI, 2.4-2.6) times more likely to be diagnosed with cancer before 18 years of age. An increasing number of nonchromosomal birth defects was associated with a corresponding increase in the risk of cancer. Children with 4 or more major birth defects were 5.9 (95% CI, 5.3-6.4) times more likely to be diagnosed with cancer compared with those without a birth defect. In the analysis of 72 specific BD-CC patterns, 40 HRs were statistically significant (adjusted P < .05) after accounting for multiple comparisons. Cancers most frequently associated with nonchromosomal defects were hepatoblastoma and neuroblastoma. CONCLUSIONS AND RELEVANCE: Several significant and novel associations were observed between specific birth defects and cancers. Among children with nonchromosomal birth defects, the number of major birth defects diagnosed was significantly and directly associated with cancer risk. These findings could inform clinical treatment for children with birth defects and may elucidate mechanisms that lead to these complex outcomes.

Hypoplastic left heart syndrome (HLHS) is strongly associated with Turner syndrome (TS); outcome data when these conditions coexist is sparse. We aimed to investigate long‐term survival and causes of death in this population. The Texas Birth Defects Registry was queried for all live born infants with HLHS during 1999–2007. We used Kaplan–Meier and Cox regression analyses to compare survival among patients with HLHS with TS (HLHS/TS+) to patients who had HLHS without genetic disorders or extracardiac birth defects (HLHS/TS−). Of the 542 patients with HLHS, 11 had TS (2.0%), 71 had other extracardiac birth defects or genetic disorders, and 463 had neither. The median follow‐up time was 4.2 y (interquartile range [IQR] 2.1–6.5). Comparing those with HLHS/TS+ to HLHS/TS−, 100% versus 35% were female (P< .001), and median birth weight was 2140 g (IQR 1809–2650) versus 3196 g (IQR 2807–3540, P< .001). Neonatal mortality was 36% in HLHS/TS+ versus 27% in HLHS/TS− (log rank = 0.431). Ten of the 11 TS+ patients died during the study period for cumulative mortality of 91% versus 50% (hazard ratio (HR) for TS+: 2.90, 95% CI 1.53–5.48). Six patients died prior to surgery, 5 underwent Stage 1 palliation (S1P), 3 died after S1P, 2 survived past S2P, and one of these died at age 19 mo. The underlying cause of death was listed as congenital heart disease on all the death certificates of HLHS/TS+ patients. In multivariable analysis controlling for low birth weight (<2500 g), TS remained associated with significantly increased cumulative mortality, although females without TS had higher mortality than males (HR for TS+ versus males: 2.42, 95% CI 1.24–4.73; HR for TS− females versus males: 1.41, 95% CI 1.08–1.83). TS with HLHS is associated with significant mortality. The increased mortality in females without documented TS calls to question if TS is undetected in a portion of females with HLHS.

Introduction:Limited information exists on long-term mortality of individuals with congenital heart defects (CHD) in the United States. Our objective was to evaluate mortality and related factors among a population-based sample of individuals with CHD born in three U.S. locations.Methods:Birth defects surveillance system data on individuals with CHD born between 1980-1997 in Arkansas, Arizona, and Atlanta, Georgia, for the Congenital Heart Survey to Recognize Outcomes, Needs, and well-beinG (CH STRONG) were linked to death records through 2015. Survival probability was estimated using Kaplan-Meier survival curves. For those who survived past one year of age, associations between age at death up to 35 years and characteristics at birth were assessed by adjusted hazards ratios and 95% confidence intervals (CIs) from multivariable Cox proportional hazards models. Standardized mortality ratios (SMRs) and CIs comparing observed to expected deaths based on age-, sex-, year-, race/ethnicity-, and site-specific population mortality rates from the National Vital Statistics System (NVSS) data were calculated.Results:Of 11,333 included individuals from CH STRONG, 9,630 (85%) survived to one year of age; of those, probability of survival to age 35 years was 95.8%. Hazard ratios for death up to age 35 years were elevated for those with severe defects, non-cardiac congenital anomalies, and maternal race other than non-Hispanic (NH) white (Figure). The SMR comparing CH STRONG to NVSS was 4.6 (CI: 4.3, 5.0); SMRs remained elevated when limiting to NH white (SMR=4.1, CI: 3.7, 4.5), NH Black (SMR=4.6, CI: 3.9, 5.4), males (SMR=3.6, CI: 3.3, 4.1) and females (SMR=6.8, CI: 6.0, 7.6).Conclusions:Individuals with CHD who survived to 1 year of age had 95.8% survival to age 35 years, with their risk of mortality 4.6 times that of the general population. People with severe defects, non-cardiac congenital anomalies, and maternal race other than NH white had the greatest mortality risk.

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

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

Birth defects and preterm birth (PTB) are leading causes of infant morbidity and mortality in the United States. Infants with birth defects are more likely to be born preterm (<37 weeks), yet the roles of maternal ethnicity and fetal growth in this relationship are unclear. This study aimed to assess the risk of PTB among non‐Hispanic (NH) Black, NH‐White, and Hispanic infants with congenital heart defects (CHD), adjusting for fetal growth.Florida Birth Defects Registry data were used to conduct a retrospective cohort study on 14,319 live‐born infants with CHDs born January 1, 1998 to December 31, 2002. ORs and 95% CIs were computed for each growth category (small‐for‐gestational age [SGA], appropriate‐for‐gestational‐age [AGA], and large‐for‐gestational‐age [LGA]) by ethnicity and adjusted for maternal and infant covariates using logistic regression.After adjusting for potential confounders, SGA and AGA NH‐Black infants with CHDs had increased risk of PTB compared to NH‐White infants with CHDs (OR 1.79; 95% CI: 1.40, 2.30 and OR 1.89; 95% CI: 1.68, 2.13, respectively). Hispanic SGA, AGA, and infants with CHDs had no increased risk of PTB compared to NH‐White infants.The increased risk of PTB among SGA and AGA NH‐Black infants with CHDs is not explained by the overall disparities in risk of PTB between NH‐Blacks and NH‐Whites. Additional studies are needed to determine the specific subtypes of CHD for which these relationships are present and if these findings are seen among infants with other birth defects. Birth Defects Research (Part A) 79:754–764, 2007. © 2007 Wiley‐Liss, Inc.

Few registry-based studies have investigated survival among infants with congenital anomalies. We conducted a registry-based study to examine patterns and probability of survival during the first year of life among infants with selected congenital anomalies. Data from the Texas Birth Defects Monitoring Division were merged with linked birth-infant death files for 2,774 infants born January 1, 1995 to December 31, 1997, with at least 1 of 23 common anomalies. Deaths before the first birthday were assessed from infant death files. Kaplan–Meier was used to estimate first-year survival; first-year survival was assessed for specific anomalies and by the number of life-threatening anomalies. Overall, 80.8% of infants with these 23 anomalies survived the first year of life. We observed the highest survival rates for infants with gastroschisis (92.9%, 95% CI = 86.8, 96.3), trisomy 21 (92.3%, 95% CI = 89.5, 94.4) or cleft lip with or without cleft palate (87.6%, 95% CI = 84.0, 90.5). Infants with intermediate survival rates included those with microcephaly (79.7%; 95% CI = 73.6, 84.6), tetralogy of Fallot (75.0%; 95% CI = 65.5, 82.2), or with diaphragmatic hernia (72.8%; 95% CI = 61.8, 81.2). As expected, all infants with anencephaly and almost all infants with trisomy 13 or trisomy 18 died during the first year of life. First-year survival declined as the number of co-occurring life-threatening anomalies increased. Overall, first-year survival for infants with congenital anomalies was high. Additional population-based studies are needed to quantify improvements in first-year survival. Teratology 64:267–275, 2001. © 2001 Wiley-Liss, Inc.

Introduction:Existing studies on quality of life (QOL) and disabilities among adults with congenital heart defects (CHD) have been limited to those in cardiac care. We aimed to evaluate QOL and disability status among a population-based sample of young adults with CHD from 3 regions of the US.Methods:We used 2016-2019 Congenital Heart Survey To Recognize Outcomes, Needs, and wellbeinG (CH STRONG) cross-sectional survey data from adults with CHD born during 1980-1997 in Arizona, Arkansas, and metro-Atlanta. Patient-Reported Outcomes Measurement Information System 10 questions were used for physical and mental QOL, with component scores transformed to T-score distributions and standardized to the general US population. Disability status among CH STRONG participants, based on six American Community Survey (ACS) questions, was compared to that of similarly aged ACS respondents from the same states. Likelihood Ratio ?2tests, accounting for clustering by site, assessed differences by CHD severity and by disability status.Results:Of the 1,514 CH STRONG participants, mean t-scores for physical (52) and mental QOL (50) were similar to that of the general population (50) and did not differ by CHD severity (?2p>0.05; Fig 1). About 39% of CH STRONG participants reported ?1 disability compared to 7% in ACS, and their most commonly-reported disability was cognitive difficulty (28%; Fig 2). CH STRONG participants with disabilities had similar QOL to those without (both ?2p>0.05).Conclusions:Young adults with CHD had similar QOL to that of the general US population, despite experiencing more disabilities. Among adults with CHD, having disabilities was not associated with reduced QOL.

Introduction:Studies of long-term outcomes among adults with congenital heart defects (CHD) have typically focused on those receiving care at specialty centers, limiting generalizability. The objective of the Congenital Heart Survey To Recognize Outcomes, Needs, and well-beinG (CH STRONG) was to assess comorbidities, healthcare utilization, quality of life, and social and educational outcomes, from a U.S. 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 registries from three U.S. locations (Arkansas, Arizona, and Atlanta, GA) that were linked to death records through 2015. Individuals with current contact information were mailed survey packages from October 2016 through January 2019. Chi square tests, accounting for clustering by site, were used to compare respondents to non-respondents.Results:Sites obtained contact information for 74.6% of the 9,312 eligible individuals alive at recruitment (Figure). Of those, 1,656 returned surveys, either online (18.1%) or on paper (81.9%), for a response rate of 23.9% (AR: 18.3%; AZ: 30.7%; Atlanta: 28.0%; p-value < 0.01). For 20.0% of respondents, a proxy (e.g., parent) completed the survey; among those, 63.9% reported the individual with CHD was mentally unable. Among respondents and non-respondents, respectively, sex (female: 54.0% and 47.3%), birth year (1986-90: 30.1% and 28.0%; 1991-1997: 56.0% and 57.5%), maternal race/ethnicity (non-Hispanic white: 74.3% and 63.0%), CHD severity (severe: 33.8% and 27.9%), presence of Down syndrome (9.2% and 8.9%), and additional non-cardiac defects (43.8% and 50.5%) did not differ significantly (p-value > 0.05 for all).Conclusions:CH STRONG will provide the first multi-site population-based findings on long-term outcomes among the growing population of U.S. adults with CHD.

Objective To evaluate whether the association between maternal periconceptional use of selective serotonin reuptake inhibitors (SSRIs) and increased risk of congenital heart defects in offspring is modified by maternal or infant genetic variants in folate, homocysteine, or transsulfuration pathways.Design Population based study. DNA from mothers, fathers, and infants was genotyped with an Illumina GoldenGate custom single nucleotide polymorphism panel. A hybrid design based on a log linear model was used to calculate relative risks and Bayesian false discovery probabilities (BFDP) to identify polymorphisms associated with congenital heart defects modified by SSRI use.Data sources Data from the US National Birth Defects Prevention Study on 1180 liveborn infants with congenital heart defects and 1644 controls, born 1997-2008.Main outcome measures Cases included infants with selected congenital heart defects and control infants had no major defects. SSRI use was obtained from telephone interviews with mothers.Results For women who reported taking SSRIs periconceptionally, maternal SHMT1 (rs9909104) GG and AGgenotypes were associated with a 5.9 and 2.4 increased risk of select congenital heart defects in offspring, respectively, versus the AA genotype (BFDP=0.69). Compared with the AA genotype, BHMT (rs492842 and rs542852) GG and AG genotypes were associated with twice the riskof congenital heart defects (BFDP=0.74 and 0.79, respectively). MGST1 (rs2075237) CC and ACgenotypes were associated with an increased risk compared with the GG genotype (8.0 and 2.8, respectively; BFDP=0.79). Single nucleotide polymorphism in infant genes in the folate (MTHFS rs12438477), homocysteine (TRDMT1 rs6602178 and GNMT rs11752813) and transsulfuration (GSTP1 rs7941395 and MGST1 rs7294985) pathways were also associated with an increased risk of congenital heart defects.Conclusions Common maternal or infant genetic variants in folate, homocysteine, or transsulfuration pathways are associated with an increased risk of certain congenital heart defects among children of women taking SSRIs during cardiogenesis.