Birth Defects Registry Research Articles

Epidemiology of Colpocephaly in the Texas Birth Defects Registry, 1999 to 2020.

Colpocephaly is a congenital brain defect characterized by enlargement of the occipital horns of the lateral ventricles. Few population-based studies have focused on this central nervous system (CNS) defect. This study aimed to evaluate the birth prevalence and survival of Texas infants with colpocephaly delivered between 1999 and 2020. Cases from the Texas Birth Defects Registry (TBDR) with a diagnosis of colpocephaly were identified. Unadjusted birth prevalence, 1-year survival estimates, and crude hazard ratios with 95% confidence intervals (CIs) were calculated from data collected from the medical record abstraction and linked vital records. Select maternal and infant variables were assessed overall and across four medical classification groups (presence of isolated, chromosomal, syndromic, or multiple major defects). From 1999 to 2020, 1,146 cases with colpocephaly were identified. The overall birth prevalence of colpocephaly was 1.36/10,000 live births (95% CI: 1.28-1.44). Significantly higher prevalence was noted for male infants, infants with low birth weight (<2,500 g), and very preterm (<32 weeks) infants. Overall, 1-year survival was 89.5%, with statistically significant differences observed in each medical classification group (e.g., isolated) across levels of maternal education, Texas/Mexico border maternal residence at delivery, infant birth weight, and gestational age. These findings have important implications for pediatric neurology and future research, such as counseling on the prevalence and prognosis of colpocephaly. Additionally, these findings highlight that the population burden of CNS defects may be higher than previously believed, supporting the expansion of research of rare brain defects. · The overall birth prevalence of colpocephaly for Texas infants delivered between 1999 and 2020 was 1.36/10,000 live births.. · Statistically significant differences in 1-year survival were observed across select maternal and infant variables.. · Longitudinal studies are necessary to fully ascertain the prevalence of colpocephaly beyond the first year of life..

P-574. Extrapolating Expected Efficacy, Safety, and Pharmacokinetics (PK) of Dolutegravir/Lamivudine (DTG/3TC) in Pregnant People Living with HIV-1 from Pregnancy Data with Combination DTG and/or 3TC Antiretroviral Therapies

Abstract Background Minimizing fetal exposure to unnecessary drugs is a guiding principle during pregnancy. DTG/3TC has demonstrated efficacy, a high barrier to resistance, and a favorable safety profile. Data on DTG/3TC use in pregnant people living with HIV-1 are limited; however, safety and PK data for the individual components are extensive from DTG- and 3TC-containing 3-drug regimens (3DRs) as preferred regimens in pregnancy. Randomized trial data and PK from pregnant participants receiving DTG 3DRs or 2-drug regimens were used to extrapolate anticipated DTG/3TC efficacy, safety, and PK in pregnancy. Methods A literature review of articles, conferences, Antiretroviral Pregnancy Registry (APR) Interim Summary, and other non-interventional studies including DTG and/or 3TC in PubMed (Jan 1998-Nov 2023) using the search terms dolutegravir, lamivudine, and pregnancy was conducted. Efficacy, safety, PK, vertical transmission, and birth outcomes data were extracted. Clinical utility of DTG/3TC in pregnancy was evaluated in context of current perinatal treatment guidelines. Results Two studies evaluated DTG/3TC efficacy and safety in pregnancy: 30/31 (97%) participants maintained virologic suppression (&amp;lt; 50 c/mL); no vertical transmission occurred. Among 194 studies of DTG and 492 of 3TC, 3 randomized trials of DTG 3DR efficacy and safety in pregnancy were found. While DTG PK in pregnancy was generally lower and 3TC PK was slightly lower than postpartum, both were well above thresholds associated with efficacy in non-pregnant adults. Overall birth defect prevalence rate with DTG exposure at conception was 0.95% (16/1683, Tsepamo) and 0.88% (43/4902, Eswatini). The APR reported overall birth defect prevalence of 3.3% (32/957) with first-trimester and 5.3% (29/549) with second/third-trimester DTG exposure, which did not significantly differ from the population-expected rate (Metropolitan Atlanta Congenital Defects Program, 2.7%; Texas Birth Defects Registry, 4.2%). Conclusion DTG/3TC is anticipated to be similarly effective and tolerated for parental health and vertical transmission prevention with fetal exposure to fewer drugs. Pregnancy is not anticipated to significantly impact DTG/3TC exposure. DTG and 3TC are well tolerated with a well-established safety profile in pregnancy. Disclosures William R. Short, MD, Gilead: Grant/Research Support|Janssen: Honoraria|ViiV Healthcare: Advisor/Consultant|ViiV Healthcare: Honoraria Parul Patel, MSW, GSK: Stocks/Bonds (Public Company)|ViiV Healthcare: Employee Gustavo Verdier, BSc, BPharm, MBA, ViiV Healthcare: Employee Ana Puga, MD, FAAP, AAHIVS, GSK: Stocks/Bonds (Public Company)|ViiV Healthcare: Employee Andrew Weber, MS, GSK: Stocks/Bonds (Public Company)|ViiV Healthcare: Employee Leigh Ragone, MS, GlaxoSmithKline: Stocks/Bonds (Public Company)|ViiV Healthcare: Full time employee Eva Fernvik, PhD, GSK: Stocks/Bonds (Public Company)|ViiV Healthcare: Employee Vani Vannappagari, MBBS, MPH, PhD, GSK: Stocks/Bonds (Public Company)|ViiV Healthcare: Full time Employee|ViiV Healthcare: Stocks/Bonds (Public Company) V. Paul DiMondi, PharmD, GSK: Stocks/Bonds (Public Company)|ViiV Healthcare: Employee Clifford B. Jones, BSc MSc MB ChB, GSK: Stocks/Bonds (Public Company)|ViiV Healthcare: Employee

Recommendations for Improving Surveillance of Congenital Anomalies in Europe Using Healthcare Databases.

Although accessing administrative data in healthcare databases may be a more time-efficient and cost-effective method of conducting surveillance, there is evidence suggesting that administrative data alone are not sufficient for population-based surveillance of congenital anomalies. To propose recommendations to maximise the potential use of healthcare databases for surveillance of congenital anomalies based on our data linkage experiences and results from the EUROlinkCAT study. EUROlinkCAT is a population-based cohort study of 99,416 children with anomalies born between 1995 and 2014. The congenital anomaly case records of children in 11 European congenital anomaly (EUROCAT) registries (eight countries) were linked to standardised administrative healthcare data (birth records, death records and hospital discharge records) to evaluate mortality and morbidity outcomes in these children. Overall, 97% of children with anomalies were successfully matched to their records in their national or regional administrative databases. Recommendations to improve surveillance of anomalies when using healthcare data were developed through establishing and analysing data from this cohort. The primary recommendation is to develop systems to report anomalies diagnosed in foetuses who undergo a termination and link these data to their mothers. Each liveborn baby must be assigned a permanent unique identification number at birth to enable accurate linkage across healthcare databases. Implementing and improving existing algorithms to discriminate between major anomalies and suspected or minor anomalies will improve accuracy in coding. Heterogeneity in coding anomalies will improve by avoiding the use of 'unspecified' or 'other specified' codes in hospital databases. Relaxation of country-specific regulations concerning the suppression of small numbers are necessary to enable data to be combined across European countries. Implementation of these recommendations will enable the information in electronic healthcare databases, in conjunction with Congenital Anomaly registries, to be fully exploited and hence will improve the surveillance of anomalies in children.

Comorbidities and Healthcare Utilization Among Young Adults With Congenital Heart Defects by Down Syndrome Status-Congenital Heart Survey to Recognize Outcomes, Needs, and wellbeinG, 2016-2019.

Almost half of individuals born with Down syndrome (DS) have congenital heart defects (CHDs). Yet, little is known about the health and healthcare needs of adults with CHDs and DS. Therefore, we examined comorbidities and healthcare utilization of this population. Data were from the 2016-2019 Congenital Heart Survey to Recognize Outcomes, Needs, and well-beinG (CH STRONG), a survey of 19-38-year-olds with CHDs identified through birth defects registries in Arkansas, Arizona, and Atlanta. Outcome estimates were standardized to the CH STRONG eligible population. Multivariable Poisson regression generated adjusted prevalence ratios (aPRs) for associations between DS and each outcome, adjusting for covariates, including CHD severity. Among 1500 respondents, 9.1% had DS. Compared to those without DS, respondents with DS were more commonly male (55.5% vs. 45.0%), < 25 years old (51.8% vs. 42.7%), non-Hispanic White (72.3% vs. 69.3%), and publicly insured (77.4% vs. 22.8%; all p < 0.05). Of adults with CHDs and DS, 5.5% had cardiac comorbidities, 19.3% had emergency room (ER) visits, 6.2% had hospital admissions, and 1.2% had cost-related delays in care in the last year; 0.1 to 0.6 times lower than adults with CHDs without DS. Additionally, 26.7% had non-cardiac comorbidities (aPR = 1.25 [0.92-1.72]), most commonly sleep apnea (13.7% vs. 3.2%, aPR = 3.67 [2.02-6.67]). Receipt of cardiology care in the last 2 years was similarly low (52.7% vs. 44.7%). Adults with CHDs and DS comprise a substantial percentage of adults with CHDs and have unique health and healthcare needs. Half of adults with CHDs and DS are not receiving recommended routine cardiac care.

Prenatal diagnosis of congenital anomalies and birth institution complexity levels in Argentina.

Patiens with major congenital anomalies diagnosed prenatally should be referred to and delivered in institutions with the appropriate level of complexity, as this reduces morbidity and mortality. We aimed to assess the prevalence and prenatal diagnosis proportion of selected congenital abnormalities and the complexity levels of birth institutions in a sample of public maternity hospitals in Argentina. Data sources were (1) National Congenital Anomalies Registry, covering the period from 2013 to 2021; and (2) Categorization of birth institutions according to their complexity (high or low). Newborns with the following anomalies were selected for analysis: spina bifida, hydrocephalus, critical congenital heart defects, diaphragmatic hernia, gastroschisis, and omphalocele. Prevalences at birth and prenatal diagnosis proportions were calculated according to the birth institution complexity level. A total of 2.214.102 births across 131 institutions were evaluated, with 1.202.311 births in high-complexity institutions and 1.011.791 in low-complexity institutions. The prevalences per 10.000 births and the prenatal diagnosis proportions for the entire sample were: spina bifida 5,40(95%CI 5,10 - 5,71) 68,54%; hydrocephalus 6,96(95% CI 6,62 - 7,32) 78,92%; critical congenital heart defects 11,05(95% CI 10,62 - 11,49) 43,21%; diaphragmatic hernia 3,88(95%CI 3,62 - 4,14) 68,65%; gastroschisis 7,85(95%CI 7,48 - 8,22) 79,27%; omphalocele 2,01(95%CI 1,83 - 2,20) 76,18%. Prevalences and prenatal diagnosis porportions were significantly higher in high-complexity institutions. Prenatal diagnosis and perinatal care networks must be improved to ensure that patients with major congenital anomalies are delivered in high-complexity birth institutions. The prevalence and prenatal diagnosis porportion, stratified by the complexity level of institutions, can serve as management indicators to evaluate improvements in care quality.

Childbirth after cancer among 42 896 male adolescents and young adults: a population-based study

Abstract Background Few studies have examined childbirth and adverse perinatal outcomes among male adolescents and young adults with cancer (AYAs, diagnosed at age 15-39 years). We conducted a population-based assessment of these outcomes in a large, diverse sample. Methods Male AYAs diagnosed between January 1, 1995, and December 31, 2015, were identified using the Texas Cancer Registry and linked to live birth certificates and the Texas Birth Defects Registry through December 31, 2016. Cumulative incidence of live birth after diagnosis was estimated. Log binomial regression models were used to estimate prevalence of preterm birth (&amp;lt;37 weeks), low birth weight (&amp;lt;2500 g), small for gestational age (&amp;lt;10th percentile), and any birth defect among liveborn offspring of male AYAs compared with age-, race-, and ethnicity-matched men without cancer. Results We identified 42 896 male AYAs, among whom germ cell cancers (20.0%) were the most common. There were 9686 live births to 6833 male AYAs after diagnosis. Cumulative incidence of live birth was 18.0% (95% confidence interval [CI] = 17.6% to 18.4%) at 10 years after diagnosis. Ten-year cumulative incidence differed by cancer type (P &amp;lt; .01) and was highest for thyroid (27.6%, 95% CI = 25.4% to 29.9%) but lowest for gastrointestinal (9.6%, 95% CI = 8.1% to 10.6%) cancer. Prevalence of preterm birth (8.9% vs 8.0%, P = .02) and low birth weight (6.0% vs 5.3%, P = .02) was higher for liveborn offspring of male AYAs compared with men without cancer. There was no difference in prevalence of birth defects (4.9% vs 4.8%, P = .64). Conclusion Our findings underscore the continued importance of reproductive counseling for AYAs.

Authors' reply to correspondence on "direct potable reuse and birth defects prevalence in Texas": An augmented synthetic control method analysis of data from a population-based birth defects registry.

Authors' reply to correspondence on "direct potable reuse and birth defects prevalence in Texas": An augmented synthetic control method analysis of data from a population-based birth defects registry.

Low Apgar Score and Risk of Neonatal Mortality among Infants with Birth Defects.

The Apgar score is a clinical tool to assess newborn health at delivery and has shown utility in predicting neonatal mortality in the general population, but its predictive ability in neonates with birth defects remains unexplored. As such, we aimed to investigate the performance of the 5-minute Apgar score in predicting neonatal mortality among neonates with a spectrum of major birth defects. Data for neonates with birth defects born between 1999 and 2017 were obtained from the Texas Birth Defect Registry. We generated receiver operating characteristic curves and corresponding area under the curve (AUC) values for neonatal mortality (death within the first 28 days of life) by 5-minute Apgar score (<7 vs. ≥7) to measure discrimination capacity. We performed secondary analyses to determine the predictive ability of the Apgar score: (1) among infants with an isolated birth defect and (2) separately in preterm and term neonates. Low Apgar score yielded substantial predictive ability for neonatal mortality, with 25 out of 26 AUC values > 0.70 across a spectrum of defect categories. High predictive ability was consistent among neonates with isolated defects, and preterm and term neonates. The Apgar score is likely useful for predicting neonatal mortality among most neonates with birth defects. Despite small sample sizes limiting some secondary analyses, the findings emphasize the potential continued use of the Apgar score as a rapid clinical assessment tool for newborns with birth defects. Continued research may refine the Apgar score's application in this important population, both in clinical practice and population health research. · Predictive models suggest the 5-minute Apgar score (<7) is predictive of neonatal mortality.. · Consistent results were observed across spectrum of birth defect categories.. · Secondary analyses (e.g., preterm infants) yielded similarly consistent results..

Abstract 4143228: Uncovering Hidden Disparities in Surgical Mortality among Texas Medicaid-Insured Infants with Critical Congenital Heart Disease

Background: Data shows that publicly insured patients with critical congenital heart disease (CCHD) have higher surgical mortality than privately insured patients. However, little is known about disparities within Medicaid-insured cohorts. We hypothesized that disparities in surgical mortality exist within the Medicaid population, with the highest mortality being among the most socially vulnerable patients. Methods: We conducted a retrospective cohort study using Texas Birth Defects Registry records of infants with CCHD born 2010-2014 who underwent cardiac surgery &lt;1 year old (CCHDs). Patients with CCHD as defined by the Centers for Disease Control or ductal dependent anatomy were included, and records for study inclusion were reviewed by a pediatric cardiologist. Cases were linked with death certificates and the Medicaid database, and Medicaid patients were stratified into Primary (PM) and Secondary (SM) cohorts. The PM cohort was comprised of patients with the highest scores (most socioeconomically vulnerable) based on the census tract derived Social Vulnerability Index (SVI). The primary predictor was race/ethnicity and primary outcome was infant mortality. Descriptive sociodemographics were analyzed using chi-square. Infant mortality was analyzed using stratified univariable Cox Proportional-Hazards models. Results: We identified 2525 infants with CCHD S , of whom 14.5% had PM and 56.9% had SM. The Medicaid-cohort had more single ventricle, chromosomal, and extracardiac defects than the Non-Medicaid (NM) cohort (p&lt;0.0001). Compared to the SM cohort, CCHD S infants with PM were more likely to be born preterm, and be born to mothers who are non-White, have &lt; a high school education (p&lt;0.0001, respectively), and who drove further to surgical facility (p&lt;0.005). Cox regression showed no racial/ethnic mortality disparities in the PM cohort. In the SM cohort, infant mortality was 2.2x higher among Black patients (HR 2.21, CI 1.41-3.45). In the NM cohort, Hispanic patients had nearly 2x (HR 1.93, CI 1.12-3.33) and Black patients had 3x (HR 3.01, CI 1.42-5.96) higher risk of infant mortality than White CCHDs infants. Conclusions: We completed one of the largest analyses of Medicaid-insured CCHD S infants using a novel SVI stratification. Despite worse SVI, racial/ethnic disparities in CCHD S mortality were not observed among PM-insured patients. Future database work should include stratified Medicaid populations to accurately interpret outcomes in patients with CCHD.

Implementation of a national rapid prenatal exome sequencing service in England: evaluation of service outcomes and factors associated with regional variation.

Prenatal exome sequencing (pES) can enhance genetic diagnosis of fetuses with structural anomalies and has recently been introduced as a national service in England. We aimed to examine service outcomes such as diagnostic yield (definite final diagnosis), referral rate, and sources of referral, and explore variation in outcomes of pES by individual or service level factors between 01 October 2021 and 30 June 2022. pES testing results from the National Health Service laboratories performing testing were linked to National Congenital Anomaly and Rare Disease Registration Service data and the Maternity Services Data Set and descriptive statistics computed. There were 475,089 women who gave birth in England during the study period. The referral rate for pES was 8.6 (95% CI 7.8, 9.4) per 10,000 maternities. About 59% of those referred proceeded with pES testing and 35% of women who proceeded received a definite final diagnosis with a median turnaround time of 15days. Of those who had pES testing, 64.6% had a live birth, 25.3% underwent termination of pregnancy (median gestational age at termination: 26weeks), and 9.3% had a stillbirth. Among the 85 women who had a definite final diagnosis, 40% had a termination of pregnancy, 18% had a stillbirth, and 42% had a live birth. The corresponding figures among women without a definite final diagnosis were 18%, 5%, and 78%, respectively. Among women who had a termination of pregnancy, the median gestational age at final report was 24.9weeks and 26.2weeks at termination. Variation observed in some of the characteristics and outcomes between regional services were limited by small sample size. This study showed that of those referred, pES testing provided a diagnosis for one in three pregnancies with a fetal anomaly across England during the study period when other tests had been non-informative. Women who opted for a termination of pregnancy underwent the procedure at relatively late gestations. Earlier referral for pES, streamlining pathways, and faster turnaround times may help results to be available at an earlier gestation to allow families more time to make decisions around continuing or terminating their pregnancy. The variation in service outcomes between regional services needs to be investigated further to understand the reasons for these differences.

Epidemiology of Macrocephaly in the Texas Birth Defects Registry, 1999-2019.

Macrocephaly is a clinical observation denoted as an occipitofrontal head circumference exceeding two standard deviations above same age and sex norms. By its definition, macrocephaly occurs in approximately 3% of the population. Descriptive epidemiologic evaluations of macrocephaly are lacking in the literature. The primary objective of this study was to describe the prevalence of macrocephaly captured by the Texas Birth Defects Registry (TBDR) by infant sex, rural/urban residence, and select maternal characteristics. Cases of TBDR between 1999 and 2019 with a six-digit Centers for Disease Control modified-British Pediatric Association (BPA) code of 742.400 (enlarged brain/head, large head, macrocephaly, megalencephaly) were identified. All pregnancy outcomes and diagnostic certainties were included. Prevalence (per 10,000 live births) and 95% confidence intervals (CIs) were calculated using a Poisson table by rural/urban residence, infant sex, maternal age, education, race/ethnicity, history of diabetes, and body mass index (BMI). Prevalence calculations were repeated across multiple sensitivity analyses including (1) definite, isolated cases excluding those with indication of being either "benign" or "familial", (2) definite, non-isolated cases, (3) definite non-isolated cases excluding chromosomal and syndromic cases, and (4) definite, proportionate (at birth) cases. A secondary objective was to describe the most common co-occurring congenital defects among definite, non-isolated cases. Overall, between 1999 and 2019, 14,637 cases of macrocephaly were identified in the TBDR resulting in a prevalence of 18.12/10,000 live births (95% CI: 17.83-18.42). Most cases were live born (99%), had a definite diagnosis (87%), and were non-isolated (57%). Prevalence was significantly higher among males, among those with an urban residence, and among mothers who were older, Non-Hispanic White, who had greater than high school education, who had a history of diabetes, and who were obese. Prevalence patterns remained consistent across all sensitivity analyses. The most common co-occurring congenital defects among definite, non-isolated cases were minor and primarily included skull and facial bone anomalies (e.g., plagiocephaly [18%]). To our knowledge, this is the first epidemiologic evaluation of macrocephaly in a birth defects registry. The long-term clinical impact of isolated macrocephaly is not well understood and should be the focus of future investigations.

Epidemiology of Coloboma: Prevalence and Patterns in Texas, 1999-2014.

Coloboma is a rare congenital malformation in which part of the tissue that makes up the eye is missing and may cause visual impairment or blindness. Little is known about the epidemiology of this condition. Therefore, we obtained data from the Texas Birth Defects Registry on children identified with coloboma for the period 1999-2014. Using information on all live births from the same period, prevalence ratios (PRs) for selected demographic and clinical factors were used to estimate associations using Poisson regression among cases with coloboma. Coloboma cases were divided into subgroups to explore patterns of co-occurring defects and syndromes. All variables significant in unadjusted models (p < 0.05) were included in multivariable models to evaluate adjusted PRs (aPRs). We identified 1587 cases with coloboma, of whom 934 (58.8%) were nonsyndromic, and 474 (29.9%) were isolated. When considering all identified cases, factors associated with significant differences in prevalence included plurality (multiple vs. singleton aPR = 1.4, 95% CI: 1.1-1.8); maternal education (college or greater vs. less than high school aPR = 0.7, 95% CI: 0.6-0.9); maternal race/ethnicity (Hispanic vs. non-Hispanic White aPR = 0.9, 95% CI: 0.8-1.0); and maternal diabetes (yes vs. no aPR = 1.3, 95% CI: 1.0-1.6). There was a notable increase in the birth prevalence of coloboma during the study period (p-for-trend < 0.001). Effect estimates were similar across the different subgroups. In our large population, we identified several factors associated with the prevalence of coloboma. These findings may help define subgroups of women more likely to have children affected by coloboma, which could inform improved screening efforts.

Correspondence on “Direct potable reuse and birth defects prevalence in Texas”: An augmented synthetic control method analysis of data from a population-based birth defects registry

Correspondence on “Direct potable reuse and birth defects prevalence in Texas”: An augmented synthetic control method analysis of data from a population-based birth defects registry

Influencing Policy to Advance Paediatric Surgery in Africa

My aim in this lecture was to address the critical role of policy in advancing paediatric surgery in Africa. I highlight the policy gaps hindering progress in paediatric surgery, discuss supportive ongoing policy initiatives and outline the short-term impacts of these initiatives. Globally, an estimated 1.7 billion children lack access to safe and timely surgical care. In Nigeria, policy gaps have contributed to significant challenges in paediatric surgical care, including poor access and inequities in the distribution of paediatric surgeons and anaesthesiologists. To address this situation, key innovations including inclusion of children's surgery in Nigeria’s National Surgical, Obstetrics, Anaesthesia, and Nursing Plan (NSOANP) has led to infrastructure improvements, critical care training, and the creation of a birth defects registry. These initiatives have shown significant gains, such as increased surgical volumes and cost-effective infrastructure investments. Efforts to strengthen the workforce for paediatric surgery through mentoring, training, and tasksharing are underway to address the shortage of paediatric surgeons and paediatric anaesthesiologists. Furthermore, children's surgery is gaining emphasis in new policies and plans across Africa, including initiatives such as the Africa Surgical Initiative and Pan African Surgical Healthcare Forum. Paediatric surgeons must actively engage in public health policy and decision-making to create sustainable impacts on global child surgical healthcare. Continued efforts are needed to broaden engagement beyond surgical networks and platforms to achieve lasting improvements in paediatric surgical care.

Prevalence of Congenital Anomalies Before and After Implementation of a Novel Wastewater Treatment Technology in Texas: An Augmented Synthetic Control Method Analysis Utilizing Data from a Population-Based Birth Defects Registry

Objective and ApproachDirect potable reuse (DPR) involves adding purified wastewater that has not passed through an environmental buffer into a water distribution system. This technology may address growing demand for water in many population centers, but there are no studies of health outcomes in populations receiving DPR-treated drinking water. Our objective was to determine whether the prevalence of congenital anomalies increased in the period following introduction of DPR-treated water to certain public water systems in Texas. We obtained data on all cases with congenital anomalies regardless of pregnancy outcome during 2003-2017 from the population-based Texas Birth Defects Registry. Maternal demographic and residential data were obtained and a reference population of all livebirths in Texas was identified by linkage to birth and fetal death records. The augmented synthetic control method was used to model county-level changes in prevalence of congenital anomalies (expressed per 10,000 livebirths) after the adoption of DPR by four Texas counties in mid-2013. County-level data on maternal age, education, ethnicity, and rural-urban status were included as covariates. Results: We observed increased prevalence of all congenital anomalies collectively (average treatment effect in the treated [ATT] = 53.6) and congenital heart disease (ATT = 287.3) during the years 2014-2017. Neural tube defects prevalence was unchanged. ConclusionsWe found evidence that the prevalence of congenital anomalies overall and congenital heart disease specifically increased during the years 2014-2017. ImplicationsAdditional research into reproductive and developmental outcomes among people in areas supplied with DPR-treated water is warranted to inform water policy decisions.

Congenital Anomalies among Offspring of Women Living in Low Socioeconomic Status Neighborhoods or Hispanic/Latino Enclaves, Texas, 1999-2018

Objectives and ApproachNeighborhood influences pregnancy outcomes through effects on maternal health. We evaluated prevalence of &gt;140 congenital anomalies monitored by the population-based Texas Birth Defects Registry among residents of Hispanic/Latino enclaves (census tracts with high proportions of Hispanic/Latino residents, immigrants, and Spanish-speaking households) and tracts with low socioeconomic status (low nSES). We included all cases regardless of pregnancy outcome (1999-2018) and a reference population of all livebirths, identified by linkage to Texas vital records. We calculated Yost socioeconomic index and Hispanic/Latino enclave index scores using linked U.S. Census Bureau data. We used Poisson regression to estimate the prevalence ratio (PR) and 95% confidence interval of anomalies among residents of: low nSES/enclave (34.5%); low nSES/non-enclave (25.6%); high nSES/enclave (4.6%); and high nSES/non-enclave (referent; 35.3%) tracts. We adjusted for maternal age, education, race/ethnicity, parity, and pre-pregnancy body mass index. ResultsLow nSES was associated with microcephaly, pulmonary artery anomalies, atrial septal defect, and Down syndrome (PRs 1.1-1.6), and inversely associated with hypospadias and other male genital anomalies (PRs 0.8-0.9). Offspring of women in low nSES enclaves were at increased risk of several congenital heart defects relative to those in other neighborhoods. Conversely, prevalence of hypospadias was lowest among offspring of women in low nSES enclaves. ConclusionsLinkage between a population-based registry, vital records, and Census Bureau data revealed novel associations between neighborhood characteristics and congenital anomalies. ImplicationsFurther research is warranted to understand mechanisms linking neighborhood factors to congenital anomalies.

Enhancing the Classification of Congenital Heart Defects for Outcome Association Studies in Birth Defects Registries.

Traditional strategies for grouping congenital heart defects (CHDs) using birth defect registry data do not adequately address differences in expected clinical consequences between different combinations of CHDs. We report a lesion-specific classification system for birth defect registry-based outcome studies. For Core Cardiac Lesion Outcome Classifications (C-CLOC) groups, common CHDs expected to have reasonable clinical homogeneity were defined. Criteria based on combinations of Centers for Disease and Control-modified British Pediatric Association (BPA) codes were defined for each C-CLOC group. To demonstrate proof of concept and retention of reasonable case counts within C-CLOC groups, Texas Birth Defect Registry data (1999-2017 deliveries) were used to compare case counts and neonatal mortality between traditional vs. C-CLOC classification approaches. C-CLOC defined 59 CHD groups among 62,262 infants with CHDs. Classifying cases into the single, mutually exclusive C-CLOC group reflecting the highest complexity CHD present reduced case counts among lower complexity lesions (e.g., 86.5% of cases with a common atrium BPA code were reclassified to a higher complexity group for a co-occurring CHD). As expected, C-CLOC groups had retained larger sample sizes (i.e., representing presumably better-powered analytic groups) compared to cases with only one CHD code and no occurring CHDs. This new CHD classification system for investigators using birth defect registry data, C-CLOC, is expected to balance clinical outcome homogeneity in analytic groups while maintaining sufficiently large case counts within categories, thus improving power for CHD-specific outcome association comparisons. Future outcome studies utilizing C-CLOC-based classifications are planned.

Demographic Differences and Potential Bias From Automated Occupation Coding Among Mothers of Babies Born With or Without Cleft Lip and/or Cleft Palate in the Texas Birth Defects Registry.

To compare maternal demographics based on occupation coding status and evaluate potential bias by excluding manually coded occupations. This case-control study assessed cases with clefts obtained from the Texas Birth Defects Registry. The NIOSH Industry and Occupation Computerized Coding System automatically coded occupations, with manual coding for unclassified cases. Maternal demographics were tabulated by occupation coding status (manual vs. automatic). Logistic regression examined associations between major occupation groups and clefts. Automatic coding covered over 90% of all mothers. Building, grounds cleaning, and maintenance occupations, and office and administrative support occupations were significantly associated with cleft lip with or without cleft palate, even after excluding manually coded occupations. We found consistent associations before and after excluding manually coded data for most comparisons, suggesting that machine learning can facilitate occupation-related birth defects research.

Orofacial Clefts and Maternal Risk Factors: A Population-Based Case-Control Study.

Orofacial clefts (OFCs) are some of the most common congenital anomalies worldwide. The aim of this case-control study was to evaluate the association of OFCs with selected maternal characteristics. Data on isolated non-syndromic cases of OFCs were extracted from the population-based registry of congenital anomalies of Tuscany. A sample of live-born infants without any congenital anomaly was used as the control group. We investigated the association with sex and some maternal characteristics: age, body mass index, smoking, and education. Adjusted odds ratios (OR) were calculated using a logistic regression model. Analyses were performed for the total OFCs and separately for cleft lip (CL) and cleft palate (CP). Data on 219 cases and 37,988 controls were analyzed. A higher proportion of males (57.9%) was observed, particularly for CL. A decreasing trend among the maternal age classes was observed (OR:0.81 (95%CI 0.70-0.94)). Underweight mothers had a higher prevalence of OFCs, in particular for CL (OR:1.88 (95%CI 1.08-3.26)). We found an association of OFCs with lower maternal age. The association with maternal age remains controversial and further epidemiological evidence is needed through multicenter studies. We observed that CL was more common in underweight mothers, suggesting actions of primary prevention.

The Antiretroviral Pregnancy Registry: Three decades of prospective monitoring for birth defects.

Antiretrovirals (ARVs) are life-saving drugs used for the treatment and prevention of HIV infection and antiviral drugs (AVs) for the treatment of chronic HBV infection. ARVs have proven highly effective in reducing perinatal HIV transmission, however the risk of birth defects from prenatal exposure to ARVs/AVs is an ongoing concern. The Antiretroviral Pregnancy Registry (APR), an international, prospective exposure-registration cohort study, monitors ARV and AV use in pregnancy for early signals of teratogenicity. This communication reports results of 30-years' experience of ARV/AV exposure during pregnancy and lessons learned through continuous quality improvement. Birth defect prevalence is estimated and compared to internal and external groups. Statistical inference is based on exact methods for binomial proportions. Between 2006 and 2023, cumulative enrollment more than tripled from 6893 to 25 960 pregnancies and ARVs/AVs monitored increased from 29 to 222. Through January 2023, there were 21 636 live births and 631 outcomes with birth defects, for overall prevalence of 2.9/100 live births (95% CI 2.7, 3.2). The birth defect prevalence was 3.0% (95% CI 2.7%, 3.3%) among first trimester exposures and 2.8% (95% CI 2.5%, 3.2%) among second/third trimester exposures (prevalence ratio 1.04 [95% CI 0.89, 1.21]). Birth defect prevalence is not statistically significantly different between first trimester ARV/AV pregnancy exposures compared to second/third trimester exposures and is also not different from two population-based surveillance systems: 2.72/100 live births reported in the Metropolitan Atlanta Congenital Defects Program (MACDP); and 4.17/100 live births from the Texas Birth Defects Registry (TBDR).