Orofacial clefts in Costa Rica, 1996-2021: Analysis of surveillance data.

BACKGROUND: Orofacial clefts (OFCs) are among the most common birth defects (BD). In 2008, a series of improvements began in the Costa Rican Birth Defect Register Center (CREC). We aim to explore trends between 1996 and 2021. METHODS: A trend analysis of OFCs from 1996 to 2021 and a descriptive analysis of OFCs from 2010 to 2021 were performed based on data from the CREC, the national BD surveillance system. Prevalence at birth was calculated according to the type: cleft palate (CP), cleft lip with or without CP (CL ± P), and presentation (isolated, multiple non-syndromic, or syndromes). We used joinpoint regression to identify if a significant change in trend occurred; the average annual percent change (AAPC) was determined. Marginal means and prevalence ratios by subperiod (1996-2009 as referent and 2010-2021) were estimated using Poisson regression and compared using Wald's chi-square tests (α ≤.05). RESULTS: We found a significant AAPC for OFCs prevalence of +1.4: +0.6 for isolated, +2.9 for multiple non-syndromic, and +7.7 for syndromes (p < .05). When comparing the OFC's prevalence of the subperiod 2010-2021 (11.86 per 10,000) with 1996-2009 (9.36 per 10,000) the prevalence ratio was 1.3 (p < .01): 1.1 (p < .05) for isolated, 1.6 (p < .01) for multiple non-syndromic, and 3.3 (p < .01) for syndromes. The prevalence of OFCs from 2010 to 2021 was 9.1 for CL ± P and 2.8 for CP. Seventy-one percent of the OFCs were isolated, 22% multiple non-syndromic, and 7% syndromes. CONCLUSION: The trend in OFCs' prevalence is toward increasing, mainly due to improvements in the surveillance system.

Maternal exposure to ambient temperature and birth defects in Brazil: a nationwide case-control study of over 11 million newborns.

Maternal exposure to extreme ambient temperature during pregnancy has been proposed as a potential risk factor for birth defects. Comprehensive investigations on this association remain limited, particularly in low- and middle-income countries. This study aims to examine the association between ambient temperature exposure during pregnancy and the risk of birth defects in Brazil, contributing to the broader understanding of environmental influences on birth outcomes. Using a large dataset of over 11 million live birth records, we analyzed 12 categories of birth defects, encompassing a time frame from 2001 to 2018. Ambient temperature data were assigned at the municipality level. For the exposure assessment, we considered two biologically driven pregnancy stages by dividing the gestational period into two specific windows: the first trimester (from week 1 to week 12) and the second trimester (from week 13 to week 28). We employed a two-stage case-control design. In the first stage, we applied a conditional logistic regression model to estimate the odds ratio (OR) for specific birth defects and each of the five Brazilian regions (North, Northeast, Midwest, Southeast, and South). The model was adjusted for potential confounding variables, including PM2.5, relative humidity, and socioeconomic status. Temporal trends were addressed using time-stratified sampling. In the second stage, we used mixed-effects meta-analysis to pool region-specific estimates. Our analysis revealed a significant association between maternal exposure to higher ambient temperatures during the first trimester and an increased risk of specific birth defect categories, including those affecting the genital organs (OR = 1.08, 95% CI: 1.02; 1.14), digestive system (OR = 1.12, 95% CI: 1.06; 1.19); circulatory system (OR = 1.08, 95% CI: 1.01; 1.17); eyes, ears, face, and neck (OR = 1.08, 95% CI: 1.02; 1.15); benign neoplasms tumors (OR = 1.17, 95% CI: 1.03; 1.32), musculoskeletal system (OR = 1.03, 95% CI: 1.01; 1.05); and other congenital anomalies (OR = 1.22, 95% CI: 1.15; 1.29). The associations with respiratory system, nervous system, and chromosomal anomalies were null. These findings have significant implications for public health policies aimed at mitigating the impact of environmental factors on birth outcomes, both in Brazil and globally.

The most common congenital malformations in dogs: Literature review and practical guide.

Congenital malformations can affect almost 7% of canine newborns. The increase of commercial dog breeding and inbreeding used to maintain the striking characteristics of each breed, the appearance of malformations has become increasingly common, especially in brachycephalic dogs. The causes are diverse, and include genetic, nutritional, iatrogenic, and infectious factors, often making it difficult to establish a cause-consequence relationship. The high mortality associated with malformations comes not only from the fact that some are incompatible with life, but also because even if many undergo surgical treatment or correction, they require specific management, monitoring, and clinical treatment for an indefinite period of time. The most common malformations such as cleft lip and palate, hydrocephalus and anasarca have been studied for a long time, and it is currently known that brachycephalic dogs have a greater predisposition, however, for other less common conditions as gastroschisis and hypospadias, there is only a few case reports. The appearance of congenital defects in a litter leads to financial losses for the breeder, emotional losses for the owner and the veterinarian and harms the well-being of that individual. For this reason, the aim of this review article is to gather relevant information on the characteristics, diagnosis, and management of the main malformations in puppies. It is essential that the veterinarian is prepared to diagnose and treat these conditions, reducing negative impacts on animals and owners.

Tetralogy of Fallot: Hypoxia, the villain of the story?

BACKGROUND: Tetralogy of Fallot (ToF) is a cyanotic congenital heart disease, composed of four malformations: persistent communication between the right and the left ventricle, pulmonary stenosis, overriding aorta, and right ventricle hypertrophy. The etiology of this disease is not entirely known as yet, but it has been proposed that the pathology has genetic components. During embryonic development, the fetus is exposed to a physiological hypoxia to facilitate the formation of blood vessels and blood cells through de novo processes. METHODS: After researching scientific databases on the implications of oxygen on the normal and abnormal development of organs, especially the heart, we were able to propose that oxygen deprivation may be the cause of the disease. RESULTS: During this period, the hypoxia-inducible factor is activated and triggers transcriptional responses that enable adaptation to the hypoxic environment through angiogenic activation. High levels of this protein can alter certain physiological pathways, such as those related to the vascular endothelial growth factor. Research has shown that prolonged oxygen deprivation during embryological development can lead to the occurrence of congenital heart diseases, such as ToF. CONCLUSIONS: Studies using animal models have demonstrated that the deficiency or disruption of a protein called "CITED2," which plays an important role in cardiac morphogenesis and its loss, results in the alteration of pluripotent, cardiac, and neural lineage differentiation, thereby disrupting the normal development of the heart and other tissues.

Three-Year Post-Neonatal Intensive Care Unit Health Care Utilization Among Infants with Congenital Anomalies.

OBJECTIVE: To describe 3-year post-neonatal intensive care unit (NICU) health care use among children with congenital anomalies discharged home from a level IV NICU. STUDY DESIGN: Retrospective chart review of children with congenital anomalies enrolled in a previous prospective cohort study from 201 to 2020. We assessed hospital readmission rate, number of surgeries, and durable medical equipment (DME) use by type of anomaly. RESULTS: Among 166 infants enrolled in the original study, 158 survived to NICU discharge. One-third of the cohort had a genetic anomaly. Six of 158 patients (4%) died before 3 years of age. More than one-half the children were readmitted within the first 2 years of life, and one-third were readmitted in the third year of life. Readmissions were greatest for those with multiple, musculoskeletal, and central nervous system anomalies and lowest for abdominal-wall defects. Approximately one-half the children underwent surgeries, and this proportion remained constant over the 3-year time. Sixty-two percent of patients received DME at discharge, with gastrostomy tubes being the most common. Gastrostomy tubes were still present in 75% of the patients at 3 years of age. CONCLUSION: Children with congenital anomalies are at risk for increased health care use during early childhood. Those with multiple anomalies, a genetic syndrome, musculoskeletal, and central nervous system anomalies and those discharged with DME are at greatest risk whereas those with abdominal-wall defects are at lowest risk. Provider awareness, high-quality discharge training, parent psychological support, greater assimilation of families in the NICU, and telehealth may be some strategies to better support these families.

Population-based prevalence and trend of birth defects in Costa Rica from 2000 to 2019.

BACKGROUND: We aimed to analyze the prevalence and trend of birth defects (BDs) in Costa Rica, where BDs are the second leading cause of infant and under-five mortality. METHODS: A descriptive analysis of selected BDs prevalence and trends from 2000 to 2019 was performed, based on data from the Costa Rican Birth Defects Register Center, the national BDs surveillance system with coverage of 98% of live births in the country. We used Joinpoint regression to identify any calendar year where a significant change in trend occurred; the annual percent change (APC) and the average annual percent change (AAPC) were determined. Marginal means and prevalence ratios by subperiod (2000-2009 as referent and 2010-2019) were estimated using Poisson regression, and compared using Wald's chi-square tests (alpha ≤0.05). RESULTS: From 2000 to 2019, BDs occurred in 2.3% of live births (95% CI: 2.3-2.4); 73% of which were major BDs. Males presented a significantly higher prevalence (sex ratio 1.13 males/females). The trend showed an AAPC of +3.7 (p < .05) with two joinpoints, 2005 and 2013. A significant APC (+11.3) was observed during 2005-2013, within the context of improvements in the surveillance system, such as the increase in the reporting age, and the incorporation of other data sources in addition to maternity hospitals. Most of the BDs groups presented a significant upward trend. The highest AAPC was observed for the respiratory system (+11.7), congenital heart defects (+9.5), and nervous system (+8.5). CONCLUSIONS: The BDs present a clear upward trend in the last two decades due, among other things, to a significant improvement in the surveillance system.

Defectos congénitos: de la embriogénesis a la prevención

Los defectos congénitos constituyen causa de discapacidad física, psíquica y social, con un impacto en el incremento de los indicadores de morbilidad y mortalidad infantil. Pueden ser prevenibles en el nivel primario o preconcepcional. Con el objetivo de sistematizar los referentes teóricos relacionados con la embriogénesis de los defectos congénitos en función de su prevención, se realizó una búsqueda sobre el tema, consultándose 29 referencias bibliográficas. Se abordaron generalidades del desarrollo ontogénico, aspectos históricos de los defectos congénitos, su embriogénesis, etiología y definición. Asimismo, la prevención como estrategia de intervención en salud en diferentes niveles de actuación aplicados a los defectos congénitos. La etapa prenatal de la ontogenia -la más significativa- se divide a su vez en tres subetapas: la preembrionaria, la embrionaria y la fetal. La embrionaria, que transita entre la segunda y la octava semanas del desarrollo, es la más susceptible y vulnerable, y por tanto es el momento en el que, con mayor frecuencia, acontecen los errores en la embriogénesis, lo cual se traduce en el producto como un defecto congénito. La etiología de estos desórdenes de la ontogenia, obedece a factores genéticos, ambientales y multifactoriales. Existen tres niveles de prevención: preconcepcional, prenatal y posnatal; en el primero, se ponen en práctica diferentes acciones, y resulta vital la contribución de los médicos de la atención primaria de salud.

Birth defects cause physical, mental and social disabilities, with an impact on the increase of infantile morbidity and mortality indicators. They may be preventable at primary or preconception level. In order of systematize the theoretical references related to the embryogenesis of birth defects in function of their prevention, a search was carried out on the topic, consulting 29 bibliographic references. Generalities of ontogenic development, historical aspects of birth defects, their embryogenesis, etiology and definition are addressed. Also, prevention as strategy of health intervention at different levels of action applied to birth defects. The prenatal stage of ontogeny -the most significant one- is in turn divided into three sub-stages: pre-embryonic, embryonic, and fetal. The embryonic one, which passes between the second and eight weeks of development, is the most susceptible and vulnerable, and therefore it is the time when, most often, errors in embryogenesis occur, which translates into the product as a birth defect. The etiology of these ontogeny disorders is due to genetic, environmental and multifactorial factors. There are three prevention levels: pre-conceptional, pre-natal and post-natal; in the first, different actions are put into practice, and the contribution of the primary health care physicians is vital.

Mexican-American Women's Lifelong Residence in the United States Is Associated with an Increased Risk of Gastroschisis: A Population-Based Study.

OBJECTIVE: To determine whether nativity is associated with abdominal wall defects among births to Mexican-American women. STUDY DESIGN: Using a cross-sectional, population-based design, stratified and multivariable logistic regression analyses were performed on the 2014-2017 National Center for Health Statistics live-birth cohort dataset of infants of US-born (n = 1 398 719) and foreign-born (n = 1 221 411) Mexican-American women. RESULTS: The incidence of gastroschisis was greater among births to US-born compared with Mexico-born Mexican-American women: 36.7/100 000 vs 15.5/100 000, RR = 2.4 (2.0, 2.9). US-born (compared with Mexico-born) Mexican-American mothers had a greater percentage of teens and cigarette smokers, P < .0001. In both subgroups, gastroschisis rates were greatest among teens and decreased with advancing maternal age. Adjusting for maternal age, parity, education, cigarette smoking, pre-pregnancy body mass index, prenatal care usage, and infant sex), OR of gastroschisis for US-born (compared with Mexico-born) Mexican-American women was 1.7 (95% CI 1.4-2.0). The population attributable risk of maternal birth in the US for gastroschisis equaled 43%. The incidence of omphalocele did not vary by maternal nativity. CONCLUSIONS: Mexican-American women's birth in the US vs Mexico is an independent risk factor for gastroschisis but not omphalocele. Moreover, a substantial proportion of gastroschisis lesions among Mexican-American infants is attributable to factors closely related to their mother's nativity.

Prevalence of congenital anomalies in the Dutch Caribbean islands of Aruba, Bonaire, and Curaçao.

BACKGROUND: Congenital anomalies represent an important global health issue. Data on the prevalence and pattern of congenital anomalies in the Caribbean region are scarce and lacking altogether in Aruba, Bonaire and Curaçao (ABC islands). METHODS: We performed a population-based surveillance study to determine the prevalence of structural congenital anomalies in the ABC islands, including all live births and stillbirths between January 1, 2008 and December 31, 2017 with major congenital anomalies according to EUROCAT guide 1.5. Terminations of pregnancy for fetal anomaly were included as well. Cases were identified by active case ascertainment, using multiple sources including pediatric patient files and discharge letters, delivery records, and clinical genetic patient files. Total and subgroup prevalence rates were compared between the three islands and to the French West Indies and Northern Netherlands. RESULTS: Total prevalence of congenital anomalies on the ABC islands was 242.97 per 10,000 births. Total prevalence of congenital anomalies in Bonaire (325.15 per 10,000 births) was higher compared to Aruba (233.29 per 10,000 births) and Curaçao (238.58 per 10,000 births), which was mainly attributable to a higher prevalence of limb anomalies, in particular polydactyly, in Bonaire. Total prevalence of congenital anomalies on the ABC islands was comparable to the French West Indies (248.69 per 10,000 births) but significantly lower compared to the Northern Netherlands (298.98 per 10,000 births). In the subgroup prevalence analysis, the prevalence of polydactyly and atrial septal defect on the ABC islands was significantly higher compared with the French West Indies and the Northern Netherlands, while the prevalence of congenital anomalies of the kidney and urinary tract and genetic disorders was significantly lower. CONCLUSIONS: This is the first study to establish the prevalence and pattern of congenital anomalies on the ABC islands, which is important to inform healthcare managers and policymakers and to provide a basis for continuous surveillance of congenital anomalies.

Contribution of Preterm Birth to Mortality Among Neonates with Birth Defects.

OBJECTIVE: To estimate the proportion of neonatal mortality risk attributable to preterm delivery among neonates with birth defects. STUDY DESIGN: Using a statewide cohort of live born infants from the Texas Birth Defects Registry (1999-2014 deliveries), we estimated the population attributable fraction and 95% CI of neonatal mortality (death <28 days) attributable to prematurity (birth at <37 weeks vs ≥37 weeks) for 31 specific birth defects. To better understand the overall population burden, analyses were repeated for all birth defects combined. RESULTS: Our analyses included 169 148 neonates with birth defects, of which 40 872 (24.2%) were delivered preterm. The estimated proportion of neonatal mortality attributable to prematurity varied by birth defect, ranging from 12.5% (95% CI: 8.7-16.1) for hypoplastic left heart syndrome to 71.9% (95% CI: 41.1-86.6) for anotia or microtia. Overall, the proportion was 51.7% (95% CI: 49.4-54.0) for all birth defects combined. CONCLUSIONS: A large proportion of deaths among neonates with birth defects are attributable to preterm delivery. Our results highlight differences in this burden across common birth defects. Our findings may be helpful for prioritizing future work focused on better understanding the etiology of prematurity among neonates with birth defects and the mechanisms by which prematurity contributes to neonatal mortality in this population.

Vigilancia epidemiológica de defectos congénitos en Granma

Introducción: el Registro Cubano De malformaciones Congénitas (RECUMAC), es un programa de atención y vigilancia clínico-epidemiológico de las anomalías congénitas, el cual fue implementado en nuestro país en el año 1985, tiene un diseño de tipo caso-control, de base hospitalaria y alcance nacional, recogiendo información sobre la madre y el recién nacido, los productos de las terminaciones voluntarias de embarazo (TVE), así como factores ambientales y genéticos de interés. Objetivo: determinar la prevalencia al nacer y la frecuencia ajustada de defectos congénitos mayores. Métodos: se realizó un estudio observacional, descriptivo y transversal, que implicó a los recién nacidos con defectos congénitos mayores de la provincia Granma en el período 2011-2018. Se calculó la prevalencia al nacer, la frecuencia ajustada y la tendencia de ambos, del total de los defectos estudiados para cada año, en cada municipio. Resultados: las frecuencias ajustadas de malformaciones congénitas se mantienen entre 14,4 y 15x1000 NV, excepto en los años 2012 y 2014 en que se elevó a 20 x1000 NV, los municipios Jiguaní, Yara, Bayamo, Cauto Cristo, Niquero y Buey Arriba fueron los de mayor frecuencia de anomalías congénitas, superando la media provincial, con frecuencias entre 16,13 y 23,2x1000 NV, el sistema de órganos con mayor FA de malformaciones congénitas fue el cardiovascular con 3,74x1000 NV, y según sistema de vigilancia internacional fue la hidrocefalia la malformación más frecuente con 0,92x1000 NV y 92% de TVE. Conclusiones: Las mayores tasas de malformaciones congénitas pertenecen en primer lugar al sistema cardiovascular seguidas del sistema genitourinario y el soma. El síndrome Down, la hidrocefalia, la Gastrosquisis, la Hipospadia y el labio leporino son las cinco malformaciones congénitas más frecuentes en nuestra provincia.

Introduction: the Cuban Registry of Congenital Malformations (RECUMAC), is a program of care and clinical-epidemiological surveillance of congenital anomalies, which was implemented in our country in 1985, has a case-control design, hospital-based and national scope, collecting information on the mother and newborn, the products of voluntary terminations of pregnancy (TVE), as well as environmental and genetic factors of interest. Objective: to determine the prevalence at birth and adjusted frequency of major birth defects. Methods: an observational, descriptive and cross-sectional study was conducted involving newborns with major congenital defects in Granma province in the period 2011-2018. The prevalence at birth, the adjusted frequency and the trend of both, of the total of the defects studied for each year, in each municipality were calculated. Results: the adjusted frequencies of congenital malformations remain between 14.4 and 15x1000 NV, except in the years 2012 and 2014 when it rose to 20 x1000 NV, the municipalities Jiguaní, Yara, Bayamo, Cauto Cristo, Niquero and Buey Arriba were the ones with the highest frequency of congenital anomalies, exceeding the provincial average, with frequencies between 16.13 and 23.2x1000 NV, the organ system with the highest AF of congenital malformations was the cardiovascular one with 3.74x1000 NV, and according to the international surveillance system, hydrocephalus was the most frequent malformation with 0.92x1000 NV and 92% of TVE. Conclusions: The highest rates of congenital malformations belong first to the cardiovascular system followed by the genitourinary system and the soma. Down syndrome, hydrocephalus, gastroschisis, hypospadia and cleft lip are the five most frequent congenital malformations in our province.

Introdução: o Registro Cubano de Malformações Congênitas (RECUMAC), é um programa de assistência e vigilância clínico-epidemiológica das anomalias congênitas, que foi implantado em nosso país em 1985, possui delineamento caso-controle, de âmbito hospitalar e nacional, coletando informações sobre a mãe e o recém-nascido, produtos de interrupções voluntárias da gravidez (TVE), bem como fatores ambientais e genéticos de interesse. Objetivo: determinar a prevalência ao nascer e a frequência ajustada dos principais defeitos congênitos. Métodos: foi realizado um estudo observacional, descritivo e transversal envolvendo recém-nascidos com defeitos congênitos maiores na província de Granma no período de 2011 a 2018. Foram calculadas a prevalência ao nascer, a frequência ajustada e a tendência de ambas, do total de defeitos estudados para cada ano, em cada município. Resultados: as frequências ajustadas de malformações congênitas permanecem entre 14,4 e 15x1000 NV, exceto nos anos de 2012 e 2014 quando subiu para 20 x1000 NV, os municípios de Jiguaní, Yara, Bayamo, Cauto Cristo, Niquero e Buey Arriba foram os que apresentaram maior frequência de anomalias congênitas, superando a média provincial, com frequências entre 16,13 e 23,2x1000 NV, o sistema orgânico com maior FA de malformações congênitas foi o cardiovascular com 3,74x1000 NV e, de acordo com o sistema de vigilância internacional, a hidrocefalia foi a malformação mais frequente com 0,92x1000 NV e 92% de TVE. Conclusões: As maior estaxas de malformações congênitas pertencem primeiro ao sistema cardiovascular, seguido pelo aparelho geniturinário e pelo soma. Síndrome de Down, hidrocefalia, gastrosquise, hipospádia e fenda labial são as cinco malformações congênitas mais frequentes em nossa província.

Congenital anomalies during the 2015-2018 Zika virus epidemic: a population-based cross-sectional study.

BACKGROUND: Congenital anomalies are associated with several clinical and epidemiological complications. Following the Zika epidemic onset in Latin America, the incidence of congenital anomalies increased in Brazil. This study aimed to determine the frequency of congenital anomalies in one Brazilian state and assess potential factors associated with them. METHODS: This cross-sectional descriptive study was based on data concerning congenital anomalies recorded in the Brazilian Live-Born Information System during the Zika epidemic in Mato Grosso do Sul state from 2015 to 2018. Congenital anomalies were stratified according to year of birth and classified using ICD-10 categories. RESULTS: In total, 1,473 (0.85%) anomalies were registered. Within the number of cases recorded, microcephaly showed the greatest frequency and variations, with a 420% increase observed in the number of cases from 2015 to 2016. We identified an increase in the incidence of central nervous system anomalies, with the highest peak observed in 2016 followed by a subsequent decrease. Musculoskeletal, nervous, and cardiovascular system anomalies, and eye, ear, face, and neck anomalies represented 73.9% of all recorded anomalies. There was an increased chance of congenital anomalies in uneducated (odds ratio [OR] 5.56, 95% confidence interval [CI] 2.61-11.84) and Indigenous (OR 1.32, 95% CI 1.03-1.69) women, as well as among premature births (OR 2.74, 95% CI 2.39-3.13). CONCLUSIONS: We estimated the incidence of congenital anomalies during the Zika epidemic. Our findings could help to support future research and intervention strategies in health facilities to better identify and assist children born with congenital anomalies.

Prepregnancy overweight and obesity as risk factors for birth defects: a cross-sectional study over a 30-year period.

Overweight and obesity are public health problems worldwide despite being modifiable conditions. The association between birth defects and pregestational maternal body mass index is not entirely clear. We aimed to assess the prevalence and estimate the risk of birth defects related to pregestational body mass index and other maternal factors. We explored a 30-year time series database in a cross-section study. We analysed 40,217 cases, among them 2.8% had birth defects. Bivariate analysis showed a higher prevalence of birth defects with increased pre-pregnancy body mass index and in extremes of maternal age, white skin colour, and primiparity. Multivariable logistic regression showed a higher chance of birth defects in women with pre-pregnancy overweight/obesity (OR:1.19 [CI95%:1.01-1.41]), maternal age ≥ 40 years (OR:1.68 [CI95%:1.11-2.54]), and white skin colour (OR:1.44 [CI95%:1.19-1.75]). Maternal weight is a modifiable risk factor that must be considered and addressed in preconception counselling to minimise possible deleterious effects on embryogenesis.IMPACT STATEMENTWhat is already known on this subject? Previous studies have linked some maternal factors with birth defects. However, the association with prepregnancy maternal body mass index is not clear.What do the results of this study add? Our findings provide support for the association of prepregnancy maternal overweight and obesity with birth defects and highlight that BMI is a modified risk factor.What are the implications of these findings for clinical practice and/or further research? Maternal body mass index is a modifiable risk factor, highlighting the importance of preconception counselling for the prevention and possible reduction of factors that increase the risk of birth defects.

Analysis of early neonatal case fatality rate among newborns with congenital hydrocephalus, a 2000-2014 multi-country registry-based study.

BACKGROUND: Congenital hydrocephalus (CH) comprises a heterogeneous group of birth anomalies with a wide-ranging prevalence across geographic regions and registry type. The aim of the present study was to analyze the early neonatal case fatality rate (CFR) and total birth prevalence of newborns diagnosed with CH. METHODS: Data were provided by 25 registries from four continents participating in the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) on births ascertained between 2000 and 2014. Two CH rates were calculated using a Poisson distribution: early neonatal CFR (death within 7 days) per 100 liveborn CH cases (CFR) and total birth prevalence rate (BPR) per 10,000 births (including live births and stillbirths) (BPR). Heterogeneity between registries was calculated using a meta-analysis approach with random effects. Temporal trends in CFR and BPR within registries were evaluated through Poisson regression modeling. RESULTS: A total of 13,112 CH cases among 19,293,280 total births were analyzed. The early neonatal CFR was 5.9 per 100 liveborn cases, 95% confidence interval (CI): 5.4-6.8. The CFR among syndromic cases was 2.7 times (95% CI: 2.2-3.3) higher than among non-syndromic cases (10.4% [95% CI: 9.3-11.7] and 4.4% [95% CI: 3.7-5.2], respectively). The total BPR was 6.8 per 10,000 births (95% CI: 6.7-6.9). Stratified by elective termination of pregnancy for fetal anomalies (ETOPFA), region and system, higher CFR were observed alongside higher BPR rates. The early neonatal CFR and total BPR did not show temporal variation, with the exception of a CFR decrease in one registry. CONCLUSIONS: Findings of early neonatal CFR and total BPR were highly heterogeneous among registries participating in ICBDSR. Most registries with higher CFR also had higher BPR. Differences were attributable to type of registry (hospital-based vs. population-based), ETOPFA (allowed yes or no) and geographical regions. These findings contribute to the understanding of regional differences of CH occurrence and early neonatal deaths.

Neonatal anthropometry of malformed newborns: A large South American population-based study.

BACKGROUND: Population-based anthropometric evaluation of malformed newborns is scarce. OBJECTIVES: To evaluate malformed newborns' foetal growth using the ICD 10 malformations' classification. METHODS: A study including 33,769 newborns (14,857 malformed and 18,912 nonmalformed), selected from 678,840 births from nine South American countries, period 2010-2018, was conducted. Prevalence of severe small and small for gestational age was calculated for malformed and nonmalformed newborns classified by preterm birth categories. Prevalence and relative risk (RR) with its 95% confidence interval (CI) were calculated. The associations between anthropometric phenotypes and congenital malformations were evaluated with generalized linear models. RESULTS: Prevalence of preterm and term severe small and small for gestational age newborns was higher in malformed than that in nonmalformed neonates. For grouped ICD 10 malformations categories, the RR for severe small for gestational age was 2.88 (95% CI 2.51, 3.30) and 2.10 (95% CI 1.92, 2.30) for small for gestational age. For at-term and preterm malformed newborns, the RR for severe small for gestational age was 2.21 (95% CI 1.87, 2.61) and 3.21 (95% CI 2.52, 4.10), respectively; for small for gestational age, the RR was 2.31 (95% CI 2.11, 2.53) for at-term newborns and 2.58 (95% CI 2.16, 3.08) for preterm ones. CONCLUSIONS: Prevalence and relative risk of severe small and small for gestational age vary according to the group of malformations and gestational age; they increase in congenital malformations of the nervous, respiratory and digestive systems, and in chromosomal abnormalities and are lower for malformations of eye, ear, face and neck and cleft lip and palate. Foetal growth considered together with malformed newborns' gestational age would allow for inferring different risks of morbidity and mortality.

Audiological follow-up of children with congenital Zika syndrome.

How does the auditory function of children with congenital Zika syndrome present during the first three years of life? To determine the auditory function of children with congenital Zika syndrome during the first three years of life and estimate the frequency and long-term presentation of hearing loss in this syndrome, an auditory assessment with screening and diagnostic tests was conducted. The screening test consisted of measuring the short latency ABR using click stimuli. If the ABR click indicated hearing loss, confirmation was obtained with a frequency-specific ABR (FS-ABR), in which the stimuli were tone bursts at frequencies of 500 and 2000 Hz by bone and air conduction. This case series included 107 children with confirmed congenital Zika syndrome, and the cumulative incidence of sensorineural hearing loss in the first three years of life was 9.3% (10/107). There were no cases of delayed-onset or progressive deficits in hearing. Early presentation of sensorineural hearing loss seems to occur with a higher frequency in children with congenital Zika syndrome than in the general population. Sensorineural hearing loss resulting from congenital Zika virus infection does not appear to present with delayed onset or with progressive deficits.

Association between maternal infections during pregnancy and congenital defects in their offspring: a population-based case-control study in Bogota and Cali, Colombia 2001-2018.

Infections are frequent during pregnancy and their teratogenic role is well documented in Toxoplasmosis, other infections, Rubella, Cytomegalovirus, and Herpes simplex (TORCH). However, the in-utero development effects of the rest of the infections that affect pregnant women are unknown. We described a cohort of patients with major Birth Defects (BD) and the exposure to infections during pregnancy from the information of Congenital Defects Surveillance Programs of two Colombian cities (Bogota and Cali) between 2001 and 2018. We evaluated associations between groups of maternal infections and BD among 3096 cases and 7446 controls that were registered. BD presentation was more frequent as isolated (64.3%), polymalformed (23.2%), and syndromic (12.4%). Infections during pregnancy were present in 52.5% of cases and 44.6% of controls. The most common single infection between cases and controls was vaginal infection. The most common polyinfection was vaginal and urinary tract infection. We found an association between BD and vaginal infections with an odds ratio (OR) 1.18 (CI 1.08-1.30), urinary tract infections OR 1.16 (CI 1.05-1.28), gastrointestinal infections OR 2.06 (IC 1.18-3.59), respiratory infections OR 1.56 (IC 1.28-1.9) and viral infections OR 1.88 (IC 1.18-3.0). Knowing the teratogenic effect of infections is important to extend prevention, screening, timely diagnosis, and appropriate treatment to pregnant women.

Prenatal exposure to wildfire-related air pollution and birth defects in Brazil.

BACKGROUND: Birth defects are a major cause of poor health outcomes during both childhood and adulthood. A growing body of evidence demonstrated associations between air pollution exposure during pregnancy and birth defects. To date, there is no study looking at birth defects and exposure to wildfire-related air pollution, which is suggested as a type of air pollution source with high toxicity for reproductive health. OBJECTIVE: Our study addresses this gap by examining the association between birth defects and wildfire smoke exposure in Brazil between 2001 and 2018. Based on known differences of impacts of wildfires across different regions of Brazil, we hypothesized differences in risks of birth defects for different regions. METHODS: We used a logistic regression model to estimate the odds ratios (ORs) for individual birth defects (12 categories) associated with wildfire exposure during each trimester of pregnancy. RESULTS: Among the 16,825,497 birth records in our study population, there were a total of 7595 infants born in Brazil between 2001 and 2018 with birth defects in any of the selected categories. After adjusting for several confounders in the primary analysis, we found statistically significant OR for three birth defects, including cleft lip/cleft palate [OR: 1.007 (95% CI: 1.001; 1.013)] during the second trimester of exposure, congenital anomalies of the respiratory system [OR: 1.013 (95% CI: 1.002; 1.023)] in the second trimester of exposure, and congenital anomalies of the nervous system [OR: 1.002 (95% CI: 1.001; 1.003)] during the first trimester of exposure for the regions South, North, and Midwest, respectively. SIGNIFICANCE: Our results suggest that maternal exposure to wildfire smoke during pregnancy may increase the risk of an infant being born with some congenital anomaly. Considering that birth defects are associated with long-term disability, impacting families and the healthcare system (e.g., healthcare costs), our findings should be of great concern to the public health community. IMPACT STATEMENT: Our study focused on the association between maternal exposure to wildfire smoke in Brazil during pregnancy and the risk of an infant being born with congenital anomalies, which presents serious public health and environmental challenges.

Influence of birthplace on gastroschisis outcomes in a state in the southeastern region of Brazil

Abstract Objective: To characterize the influence of birthplace on outcomes of patients with gastroschisis admitted to three hospitals in a state in Brazil's southeastern region, according to condition inborn (born in a reference center) or outborn (born outside the reference center). Methods: Retrospective multicenter cohort study of patients with gastroschisis. The sample size utilized was of patients admitted in three hospitals with a diagnosis of gastroschisis ICD 10 Q79.3 between January 2000 to December 2018. Patients were divided into two groups, inborn and outborn. Characteristics of prenatal, perinatal and postoperative were compared using statistical tests. The level of significance adopted was P-value < 0.05. Results: In total, 144 cases of gastroschisis were investigated. The outborn patients group had higher rates of absence of antenatal diagnosis (p = 0.001), vaginal delivery (p = 0.001), longer time between birth and abdominal wall closure surgery (p = 0.001), to silo removal (p = 0.001), to first enteral feeding (p = 0.008), for weaning from mechanical ventilation (p = 0.034), used less peripherally inserted central catheter (PICC) and required more venous dissections (p = 0.001), and lower mean of serum sodium (p = 0.015). There were no differences in mortality rates and length of hospital stay between the inborn and outborn groups. Conclusion: Although outborn patients with gastroschisis were less likely to have an antenatal diagnosis and were more prone to a longer time to undergo surgical and feeding procedures, and to spend more time in mechanical ventilation, these disadvantages seemed not to reflect on the death rate and the length of hospital stay of patients from this group.