Using a health observance event to raise awareness: An assessment of World Birth Defects Day.

World Birth Defects Day (WorldBDDay), observed annually on March 3, was launched in 2015 to advocate for public health surveillance, research, and prevention of birth defects, along with improved care and treatment for affected individuals. Following its fifth observance in 2019, we assessed WorldBDDay by analyzing: (a) engagement and content of over 2000 WorldBDDay posts on Facebook, Twitter, and Instagram; (b) interview responses from 9 WorldBDDay charter (founding) organizations on their perceptions of strengths and areas for improvement for WorldBDDay; (c) survey responses from 61 WorldBDDay 2019 partner (participating) organizations on their WorldBDDay 2019 activities; and (d) post-2019 social media engagement. Most social media posts (60%) occurred from organizations using Twitter (80% vs. 14% for Instagram and 6% for Facebook), although posts from individuals had higher levels of engagement (e.g., likes and comments). The highest engagement occurred for posts focused on general awareness, prevention, or events. Charter organizations reported the need for existing and new partner engagement, including a designated WorldBDDay contact for regular communication and coordination of activities and prepared prevention-focused messaging. Partner organizations reported using the WorldBDDay toolkit, especially key messages and social media tips, and suggested expanding the toolkit with relevant resources. Post-2019 Twitter engagement was lower than 2019 WorldBDDay (peak event) but showed similar reach to WorldBDDay events prior to 2019. Our assessment identified WorldBDDay health observance events as an important tool to support knowledge dissemination and global community engagement around birth defects. Moving forward, engagement with more individuals and organizations may improve the reach of WorldBDDay.

A multi-program analysis of cleft lip with cleft palate prevalence and mortality using data from 22 International Clearinghouse for Birth Defects Surveillance and Research programs, 1974-2014.

BACKGROUND: Cleft lip with cleft palate (CLP) is a congenital condition that affects both the oral cavity and the lips. This study estimated the prevalence and mortality of CLP using surveillance data collected from birth defect registries around the world. METHODS: Data from 22 population- and hospital-based surveillance programs affiliated with the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) in 18 countries on live births (LB), stillbirths (SB), and elective terminations of pregnancy for fetal anomaly (ETOPFA) for CLP from 1974 to 2014 were analyzed. Prevalence and survival (survival for LB only) estimates were calculated for total and subclassifications of CLP and by pregnancy outcome. RESULTS: The pooled prevalence of total CLP cases was 6.4 CLP per 10,000 births. The prevalence of CLP and all of the pregnancy outcomes varied across programs. Higher ETOPFA rates were recorded in most European programs compared to programs in other continents. In programs reporting low ETOPFA rates or where there was no ascertainment of ETOPFA, the rate of CLP among LB and SB was higher compared to those where ETOPFA rates were ascertained. Overall survival for total CLP was 91%. For isolated CLP, the survival was 97.7%. CLP associated with multiple congenital anomalies had an overall survival of 77.1%, and for CLP associated with genetic/chromosomal syndromes, overall survival was 40.9%. CONCLUSIONS: Total CLP prevalence reported in this study is lower than estimates from prior studies, with variation by pregnancy outcomes between programs. Survival was lower when CLP was associated with other congenital anomalies or syndromes compared to isolated CLP.

Prevalence and mortality among children with anorectal malformation: A multi-country analysis.

PURPOSE: We examined the total prevalence, trends in prevalence, and age-specific mortality among individuals with anorectal malformation (ARM) METHODS: We conducted a retrospective cohort study using data from 24 population- and hospital-based birth defects surveillance programs affiliated with the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) from 18 countries and for births from 1974 to 2014. We estimated pooled and program-specific total prevalence per 10,000 total births. Poisson regression was used to assess time trends in prevalence from 2001 to 2012 when most programs contributed data. We calculated selected age-specific proportions of deaths, stratified by case status RESULTS: The pooled total prevalence of ARM was 3.26 per 10,000 total births (95% Confidence Interval = 3.19, 3.32) for birth years 1974-2014. About 60% of cases were multiple or syndromic. Prevalence of multiple, syndromic, and stillborn cases decreased from 2001 to 2012. The first week mortality proportion was 12.5%, 3.2%, 28.3%, and 18.2% among all, isolated, multiple, and syndromic cases, respectively CONCLUSIONS: ARM is relatively rare, with multiple and syndromic cases showing decreasing prevalence during the study period. Mortality is a concern during the first week of life, and especially among multiple and syndromic cases. Our descriptive epidemiological findings increase our understanding of geographic variation in the prevalence of ARM and can be used to plan needed clinical services. Exploring factors influencing prevalence and mortality among individuals with ARM could inform future studies.

Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease.

Congenital anomalies (CA) affect 3-5% of newborns, representing the second-leading cause of infant mortality in Argentina. Multiple congenital anomalies (MCA) have a prevalence of 2.26/1000 births in newborns, while congenital heart diseases (CHD) are the most frequent CA with a prevalence of 4.06/1000 births. The aim of this study was to identify the genetic causes in Argentinian patients with MCA and isolated CHD. We recruited 366 patients (172 with MCA and 194 with isolated CHD) born between June 2015 and August 2019 at public hospitals. DNA from peripheral blood was obtained from all patients, while karyotyping was performed in patients with MCA. Samples from patients presenting conotruncal CHD or DiGeorge phenotype (n = 137) were studied using MLPA. Ninety-three samples were studied by array-CGH and 18 by targeted or exome next-generation sequencing (NGS). A total of 240 patients were successfully studied using at least one technique. Cytogenetic abnormalities were observed in 13 patients, while 18 had clinically relevant imbalances detected by array-CGH. After MLPA, 26 patients presented 22q11 deletions or duplications and one presented a TBX1 gene deletion. Following NGS analysis, 12 patients presented pathogenic or likely pathogenic genetic variants, five of them, found in KAT6B, SHH, MYH11, MYH7 and EP300 genes, are novel. Using an algorithm that combines molecular techniques with clinical and genetic assessment, we determined the genetic contribution in 27.5% of the analyzed patients.

A Multicountry Analysis of Prevalence and Mortality among Neonates and Children with Bladder Exstrophy.

OBJECTIVE: Bladder exstrophy (BE) is a rare but severe birth defect affecting the lower abdominal wall and genitourinary system. The objective of the study is to examine the total prevalence, trends in prevalence, and age-specific mortality among individuals with BE. STUDY DESIGN: We conducted a retrospective cohort study. Data were analyzed from 20 birth defects surveillance programs, members of the International Clearinghouse for Birth Defects Surveillance and Research in 16 countries. Live births, stillbirths, and elective terminations of pregnancy for fetal anomaly (ETOPFA) diagnosed with BE from 1974 to 2014. Pooled and program-specific prevalence of BE per 100,000 total births was calculated. The 95% confidence intervals (CI) for prevalence were estimated using Poisson approximation of binomial distribution. Time trends in prevalence of BE from 2000 to 2014 were examined using Poisson regression. Proportion of deaths among BE cases was calculated on the day of birth, day 2 to 6, day 7 to 27, day 28 to 364, 1 to 4 years, and ≥5 years. Mortality analysis was stratified by isolated, multiple, and syndromic case status. RESULTS: The pooled total prevalence of BE was 2.58 per 100,000 total births (95% CI = 2.40, 2.78) for study years 1974 to 2014. Prevalence varied over time with a decreasing trend from 2000 to 2014. The first-week mortality proportion was 3.5, 17.3, and 14.6% among isolated, multiple, and syndromic BE cases, respectively. The majority of first-week mortality occurred on the first day of life among isolated, multiple, and syndromic BE cases. The proportion of first-week deaths was higher among cases reported from programs in Latin America where ETOPFA services were not available. CONCLUSIONS: Prevalence of BE varied by program and showed a decreasing trend from 2000 to -2014. Mortality is a concern among multiple and syndromic cases, and a high proportion of deaths among cases occurred during the first week of life. KEY POINTS: · Total prevalence of BE was 2.58 per 100,000 births.. · Prevalence decreased from 2000 to 2014.. · The first-week mortality was 9.3%..

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.

Detección de cardiopatías congénitas críticas en recién nacidos en Argentina a través del sistema nacional de vigilancia de anomalías congénitas (RENAC) / Detection of critical congenital heart disease among newborns in Argentina through the national surveillance system of congenital heart disease (RENAC)

Introducción. Las cardiopatías congénitas críticas (CCC) son las anomalías estructurales del corazón ductus-dependientes, que pueden llevar a la muerte o requieren tratamiento invasivo en el primer mes de vida. Objetivo. Conocer la prevalencia y distribución de CCC en recién nacidos de Argentina, en comparación con otros países, y la proporción de detección prenatal y de mortalidad perinatal. Material y métodos. Se utilizó material de la Red Nacional de Anomalías Congénitas de Argentina (RENAC) del período 2009-2018, y de otros sistemas de vigilancia de Estados Unidos (EE. UU.), Europa y Colombia. Para Argentina se analizó la proporción de detección prenatal, mortalidad perinatal y prevalencia de recién nacidos con CCC según jurisdicción y subsector de salud. Resultados. Prevalencia de CCC de 11,46 (IC95 %: 11,02-11,92) cada 10 000 nacimientos. El 43,93 % tuvo detección prenatal y la mortalidad perinatal fue del 25 %. La tetralogía de Fallot fue el defecto específico más frecuente. La prevalencia de CCC y el porcentaje de detección prenatal fue significativamente menor en el subsector público, mientras que la mortalidad perinatal fue mayor en este subsector. La prevalencia de CCC observada fue menor que en los registros de EE. UU. (NBDPN) y Europa (EUROCAT). El registro de Bogotá mostró prevalencias específicas diferentes. Conclusión. La prevalencia de CCC es más baja que la observada en otros países, y aún menor en el sector público de Argentina. Se enfatiza la necesidad de mejorar la detección prenatal e implementar la oximetría de pulso en recién nacidos como prueba de tamizaje obligatorio y universal.

Introduction. Critical congenital heart disease (CCHD) is a term that refers to ductus-dependent structural anomalies of the heart that may be fatal or require invasive management in the first month of life. Objective. To know the prevalence and distribution of CCHD among newborns in Argentina, compared to other countries, and the proportion of prenatal detection and perinatal mortality. Material and methods. Data provided by the National Network of Congenital Anomalies (Red Nacional de Anomalías Congénitas de Argentina, RENAC) for the 2009-2018 period and by other surveillance systems in the United States, Europe, and Colombia were used. For Argentina, the proportion of prenatal detection, perinatal mortality, and CCHD prevalence in newborns by jurisdiction and health system subsector were analyzed. Results. The prevalence of CCHD was 11.46 (95% confidence interval: 11.02-11.92) every 10 000 births. Prenatal detection was possible in 43.93% of cases, and perinatal mortality was 25%. Tetralogy of Fallot was the most frequent specific defect. The prevalence of CCHD and percentage of prenatal detection was significantly lower in the public subsector, whereas perinatal mortality was higher in this subsector. The prevalence of CCHD was lower than in the United States (NBDPN) and European (EUROCAT) registries. The Bogotá Registry showed different specific prevalence values. Conclusion. The prevalence of CCHD is lower than what has been observed in other countries, and even lower in the public sector of Argentina. The need to improve prenatal detection and implement pulse oximetry among newborns as a mandatory and universal screening is emphasized.

Detection of critical congenital heart disease among newborns in Argentina through the national surveillance system of congenital heart disease (RENAC). / Detección de cardiopatías congénitas críticas en recién nacidos en Argentina a través del sistema nacional de vigilancia de anomalías congénitas (RENAC).

INTRODUCTION: Critical congenital heart disease (CCHD) is a term that refers to ductus-dependent structural anomalies of the heart that may be fatal or require invasive management in the first month of life. OBJECTIVE: To know the prevalence and distribution of CCHD among newborns in Argentina, compared to other countries, and the proportion of prenatal detection and perinatal mortality. MATERIAL AND METHODS: Data provided by the National Network of Congenital Anomalies (Red Nacional de Anomalías Congénitas de Argentina, RENAC) for the 2009-2018 period and by other surveillance systems in the United States, Europe, and Colombia were used. For Argentina, the proportion of prenatal detection, perinatal mortality, and CCHD prevalence in newborns by jurisdiction and health system subsector were analyzed. RESULTS: The prevalence of CCHD was 11.46 (95% confidence interval: 11.02-11.92) every 10 000 births. Prenatal detection was possible in 43.93% of cases, and perinatal mortality was 25%. Tetralogy of Fallot was the most frequent specific defect. The prevalence of CCHD and percentage of prenatal detection was significantly lower in the public subsector, whereas perinatal mortality was higher in this subsector. The prevalence of CCHD was lower than in the United States (NBDPN) and European (EUROCAT) registries. The Bogotá Registry showed different specific prevalence values. CONCLUSION: The prevalence of CCHD is lower than what has been observed in other countries, and even lower in the public sector of Argentina. The need to improve prenatal detection and implement pulse oximetry among newborns as a mandatory and universal screening is emphasized.

Introducción. Las cardiopatías congénitas críticas (CCC) son las anomalías estructurales del corazón ductus-dependientes, que pueden llevar a la muerte o requieren tratamiento invasivo en el primer mes de vida. Objetivo. Conocer la prevalencia y distribución de CCC en recién nacidos de Argentina, en comparación con otros países, y la proporción de detección prenatal y de mortalidad perinatal. Material y métodos. Se utilizó material de la Red Nacional de Anomalías Congénitas de Argentina (RENAC) del período 2009-2018, y de otros sistemas de vigilancia de Estados Unidos (EE. UU.), Europa y Colombia. Para Argentina se analizó la proporción de detección prenatal, mortalidad perinatal y prevalencia de recién nacidos con CCC según jurisdicción y subsector de salud. Resultados. Prevalencia de CCC de 11,46 (IC95 %: 11,02-11,92) cada 10 000 nacimientos. El 43,93 % tuvo detección prenatal y la mortalidad perinatal fue del 25 %. La tetralogía de Fallot fue el defecto específico más frecuente. La prevalencia de CCC y el porcentaje de detección prenatal fue significativamente menor en el subsector público, mientras que la mortalidad perinatal fue mayor en este subsector. La prevalencia de CCC observada fue menor que en los registros de EE. UU. (NBDPN) y Europa (EUROCAT). El registro de Bogotá mostró prevalencias específicas diferentes. Conclusión. La prevalencia de CCC es más baja que la observada en otros países, y aún menor en el sector público de Argentina. Se enfatiza la necesidad de mejorar la detección prenatal e implementar la oximetría de pulso en recién nacidos como prueba de tamizaje obligatorio y universal.

Prevalence of microcephaly: the Latin American Network of Congenital Malformations 2010-2017.

Objective: The Latin American Network of Congenital Malformations: ReLAMC was established in 2017 to provide accurate congenital anomaly surveillance. This study used data from ReLAMC registries to quantify the prevalence of microcephaly from 2010 to 2017 (before, during and after the Zika virus epidemic). Design: Nine ReLAMC congenital anomaly registries provided case-level data or aggregate data for any live births, still births or terminations of pregnancy with microcephaly. Births to pregnant women infected with Zika virus first occurred in Brazil in 2015, and in the remaining registry areas in 2016 with the exception of Chile that did not experience Zika virus. Therefore the prevalence of microcephaly for 2010-2014 and individual years 2015, 2016 and 2017 was estimated using multilevel random effect Poisson models. Clinical classification and characteristics of the cases were compared pre and post Zika for all centres providing individual case-level data. Results: The prevalence of microcephaly for all registries excluding Brazil was 2.3 per 10 000 (95% CI 2.0 to 2.6) for 2010-2014 rising to 5.4 (95% CI 4.8 to 6.0) in 2016 and 5.9 (95% CI 5.3 to 6.6) in 2017. Brazil had a prevalence of 0.6 per 10 000 (95% CI 0.5 to 0.6) in 2010-2014, rising to 5.8 (95% CI 5.6 to 6.1) in 2015, 8.0 (95% CI 7.6 to 8.3) in 2016 and then falling in 2017. Only 29 out of 687 cases of microcephaly were reported as congenital Zika syndrome in countries excluding Brazil. Conclusions: The prevalence of microcephaly was influenced both by Zika causing congenital Zika syndrome and by increased reporting awareness.

Characteristics of the treatment received by children with cleft lip and palate in Argentina. / Características del tratamiento recibido por los niños con fisura labio alvéolo palatina en Argentina.

INTRODUCTION: Cleft lip and palate (CLP) are congenital abnormalities that affect anatomically and functionally the face and mouth, involving lip (CL), palate (CP), or both (CL/CP). OBJECTIVE: to characterize the treatment of children with CLP in public institutions in Argentina. PATIENTS AND METHOD: Cross sectional study in a random sample of 100 children from the Flap Network. We included children with isolated CL, CP, and CL/CP, of both sexes, with birth weight of 2500 grams or more and ges tational age over 36 weeks. The following data were recorded date of birth, hospital of birth, birth weight, gestational age, sex, specific diagnosis of the cleft, and initial surgery data. A telephone survey was conducted with the children's parents. To characterize the treatment, three indicators were cons tructed: interdisciplinary, opportunity, and integrality. These indicators were composed of different variables, and according to the sum of the score attributed to each one, the treatment was categorized as high, medium or low based on the treatment guidelines used by the Sumar Program. RESULTS: 30% of the patients started early treatment, 58% underwent timely surgery, and 29% of the children were in follow-up with basic specialties. The mother's high educational level was associated with higher probability of having interdisciplinary (OR2.9; 95%CI 1.3-6.8), comprehensive (OR3.7; 95%CI 1.6 8.7), and timely treatment (OR2.9; 95%CI 1.3-6.7). CONCLUSIONS: There are barriers to accessing care, such as long distances or shift management. Less social vulnerability of families was associated with greater likelihood of receiving treatment close to standards.

Birth prevalence of congenital anomalies in Argentina, according to socioeconomic level.

Birth prevalence of congenital anomalies (CA) in Argentina is estimated around 1.7%. CA are the second leading cause of infant mortality. Poverty and other adverse socioeconomic conditions have been associated with birth defects. To describe the prevalence at birth of CA, according to the two proxy variables of socioeconomic level: the health subsector of the hospital where the cases were born (PUB-public versus PRI-private or social security) and its geographical location. The design of the study was ecological using the data of the National Network of Congenital Anomalies of Argentina (RENAC); from October 2010 to December 2018. CA birth prevalence was estimated using the Poisson regression. We used a logistic regression model to analyze the association birth prevalence to health subsector and geographical region. A total of 2,202,994 births were examined in the study period, with a global CA prevalence of 1.69% (95% CI 1.68-1.71). The highest prevalence was observed in PUB hospitals when comparing to PRI hospitals at the country level and in all regions. There were differences in the prevalence of selected congenital anomalies with a statistically significant association to PUB (observed in anencephaly, encephalocele, hydrocephalus, microcephaly, holoprosencephaly, microtia/anotia, cleft lip and palate, postaxial polydactyly, talipes equinovarus, talipes calcaneovalgus, and gastroschisis). The prevalence of critical heart defects and chromosomal anomalies was significantly higher in PRI hospitals. Although this is an ecological study with no information on socioeconomic status at individual level, we found an association between CA frequency and selected CA with the PUB subsector. Vulnerable populations affected with CA require a greater effort from policy makers and health care providers to allocate more resources and design strategies to access to health.

Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs.

BACKGROUND: Esophageal atresia (EA) affects around 2.3-2.6 per 10,000 births world-wide. Infants born with this condition require surgical correction soon after birth. Most survival studies of infants with EA are locally or regionally based. We aimed to describe survival across multiple world regions. METHODS: We included infants diagnosed with EA between 1980 and 2015 from 24 birth defects surveillance programs that are members of the International Clearinghouse for Birth Defects Surveillance and Research. We calculated survival as the proportion of liveborn infants alive at 1 month, 1- and 5-years, among all infants with EA, those with isolated EA, those with EA and additional anomalies or EA and a chromosomal anomaly or genetic syndrome. We also investigated trends in survival over the decades, 1980s-2010s. RESULTS: We included 6,466 liveborn infants with EA. Survival was 89.4% (95% CI 88.1-90.5) at 1-month, 84.5% (95% CI 83.0-85.9) at 1-year and 82.7% (95% CI 81.2-84.2) at 5-years. One-month survival for infants with isolated EA (97.1%) was higher than for infants with additional anomalies (89.7%) or infants with chromosomal or genetic syndrome diagnoses (57.3%) with little change at 1- and 5-years. Survival at 1 month improved from the 1980s to the 2010s, by 6.5% for infants with isolated EA and by 21.5% for infants with EA and additional anomalies. CONCLUSIONS: Almost all infants with isolated EA survived to 5 years. Mortality was higher for infants with EA and an additional anomaly, including chromosomal or genetic syndromes. Survival improved from the 1980s, particularly for those with additional anomalies.

Análisis de anomalías cromosómicas, desbalances genómicos y variantes de secuencia como causa de cardiopatías congénitas / Analysis of chromosomal abnormalities, genomic imbalances, and sequence variants as cause of congenital heart defects

INTRODUCCIÓN: Las cardiopatías congénitas (CC) son causadas por el desarrollo anómalo del corazón durante el período embriofetal. Abarcan un amplio espectro de anomalías estructurales de las cavidades cardíacas o de los grandes vasos, con una prevalencia mundial de 6 a 9 por 1000 nacimientos. En Argentina constituyen un tercio de las anomalías congénitas (AC) al nacimiento. Si bien su etiología es heterogénea, se ha observado recurrencia familiar acorde con la influencia de factores genéticos. El objetivo del estudio fue evaluar la presencia de anomalías cromosómicas, desbalances genómicos o variantes de secuencias en una muestra de niños afectados con CC en Argentina. MÉTODOS: Se incluyó a 289 pacientes con CC de hasta 16 años. Se realizó un cariotipo para pacientes con otras AC y análisis por amplificación múltiple de sondas dependiente de ligación (MLPA) de regiones genómicas asociadas a CC para aquellos con CC conotroncales. En muestras seleccionadas, se analizaron desbalances genómicos por microarreglos de ADN (array-CGH) o variantes de secuencia en el gen NKX2-5. RESULTADOS: Hubo 9 pacientes que presentaron anomalías cromosómicas, 21 desbalances por MLPA y 8 por array-CGH. No se hallaron variantes patogénicas en NKX2-5 en los casos estudiados. DISCUSIÓN: Se halló la causa de la afección en el 13% de los casos analizados. El estudio de pacientes con CC aisladas o asociadas a otras AC no había sido abordado previamente en Argentina mediante este algoritmo

Prevalence and mortality in children with congenital diaphragmatic hernia: a multicountry study.

PURPOSE: This study determined the prevalence, mortality, and time trends of children with congenital diaphragmatic hernia (CDH). METHODS: Twenty-five hospital- and population-based surveillance programs in 19 International Clearinghouse for Birth Defects Surveillance and Research member countries provided birth defects mortality data between 1974 and 2015. CDH cases included live births, stillbirths, or elective termination of pregnancy for fetal anomalies. Prevalence, cumulative mortality rates, and 95% confidence intervals (CIs) were calculated using Poisson regression and a Kaplan-Meier product-limit method. Joinpoint regression analyses were conducted to assess time trends. RESULTS: The prevalence of CDH was 2.6 per 10,000 total births (95% CI: 2.5-2.7), slightly increasing between 2001 and 2012 (average annual percent change = 0.5%; 95% CI:-0.6 to 1.6). The total percent mortality of CDH was 37.7%, with hospital-based registries having more deaths among live births than population-based registries (45.1% vs. 33.8%). Mortality rates decreased over time (average annual percent change = -2.4%; 95% CI: -3.8 to 1.1). Most deaths due to CDH occurred among 2- to 6-day-old infants for both registry types (36.3%, hospital-based; 12.1%, population-based). CONCLUSIONS: The mortality of CDH has decreased over time. Mortality remains high during the first week and varied by registry type.

The Latin American network for congenital malformation surveillance: ReLAMC.

The early detection of congenital anomaly epidemics occurs when comparing current with previous frequencies in the same population. The success of epidemiologic surveillance depends on numerous factors, including the accuracy of the rates available in the base period, wide population coverage, and short periodicity of analysis. This study aims to describe the Latin American network of congenital malformation surveillance: ReLAMC, created to increase epidemiologic surveillance in Latin America. We describe the main steps, tasks, strategies used, and preliminary results. From 2017 to 2019, five national registries (Argentina [RENAC], Brazil [SINASC/SIM-BRS], Chile [RENACH], Costa Rica [CREC], Paraguay [RENADECOPY-PNPDC]), six regional registries (Bogotá [PVSDC-Bogota], Cali [PVSDC-Cali], Maule [RRMC SSM], Nicaragua [SVDC], Nuevo-León [ReDeCon HU], São Paulo [SINASC/SIM-MSP]) and the ECLAMC hospital network sent data to ReLAMC on a total population of 9,152,674 births, with a total of 101,749 malformed newborns (1.1%; 95% CI 1.10-1.12). Of the 9,000,651 births in countries covering both live and stillbirths, 88,881 were stillborn (0.99%; 95% CI 0.98-0.99), and among stillborns, 6,755 were malformed (7.61%; 95% CI 7.44-7.79). The microcephaly rate was 2.45 per 10,000 births (95% CI 2.35-2.55), hydrocephaly 3.03 (2.92-3.14), spina bifida 2.89 (2.78-3.00), congenital heart defects 15.53 (15.27-15.79), cleft lip 2.02 (1.93-2.11), cleft palate and lip 2.77 (2.66-2.88), talipes 2.56 (2.46-2.67), conjoined twins 0.16 (0.14-0.19), and Down syndrome 5.33 (5.18-5.48). Each congenital anomaly showed heterogeneity in prevalence rates among registries. The harmonization of data in relation to operational differences between registries is the next step in developing the common ReLAMC database.

A multi-country study of prevalence and early childhood mortality among children with omphalocele.

BACKGROUND: Omphalocele is the second most common abdominal birth defect and often occurs with other structural and genetic defects. The objective of this study was to determine omphalocele prevalence, time trends, and mortality during early childhood, by geographical region, and the presence of associated anomalies. METHODS: We conducted a retrospective study with 23 birth defect surveillance systems in 18 countries who are members of the International Clearinghouse for Birth Defects Surveillance and Research that submitted data on cases ascertained from 2000 through 2012, approximately 16 million pregnancies were surveyed that resulted in live births, stillbirths, or elective terminations of pregnancy for fetal anomalies (ETOPFA) and cases with omphalocele were included. Overall prevalence and mortality rates for specific ages were calculated (day of birth, neonatal, infant, and early childhood). We used Kaplan-Meier estimates with 95% confidence intervals (CI) to calculate cumulative mortality and joinpoint regression for time trend analyses. RESULTS: The prevalence of omphalocele was 2.6 per 10,000 births (95% CI: 2.5, 2.7) and showed no temporal change from 2000-2012 (average annual percent change = -0.19%, p = .52). The overall mortality rate was 32.1% (95% CI: 30.2, 34.0). Most deaths occurred during the neonatal period and among children with multiple anomalies or syndromic omphalocele. Prevalence and mortality varied by registry type (e.g., hospital- vs. population-based) and inclusion or exclusion of ETOPFA. CONCLUSIONS: The prevalence of omphalocele showed no temporal change from 2000-2012. Approximately one-third of children with omphalocele did not survive early childhood with most deaths occurring in the neonatal period.

[Zika virus embryopathy in Argentina: clinical characteristics in newborns]. / Embriopatía por virus Zika en Argentina: características clínicas y diagnóstico en recién nacidos.

Introduction: Microcephaly and brain abnormalities may be due to multiple etiologies, one of them is the congenital infection by Zika virus (ZIKV). From 2016 to the present, there has been a series of ZIKV outbreaks in Argentina. Methods: National Network of Congenital Anomalies (RENAC) and the National Institute of Viral Diseases (INEVH), under the National Administration of Laboratories and Health Institutes "Carlos Malbrán" (ANLIS), carry out the intensified surveillance of newborns with microcephaly and brain abnormalities. This article presents the clinical characteristics and laboratory testof patients detected with congenital infection by ZIKV between April 2016 to March 2018, Results: 10 cases with embryopathy were detected, six autochthonous and four imported; in two cases, the mothers were asymptomatic during pregnancy; all the cases presented microcephaly and cranial facial disproportion, ventriculomegaly in seven cases and in six cerebral calcifications. The diagnosis of congenital infection by Zika in the newborn was made by antigen-specific Immunoglobulin M (MAC-ELISA) and plaque-reduction neutralization test (PRNT90 ). PCR was negative in all cases. Conclusion: the patients presented clinical features that were consistent with those reported in other countries. The need for serological studies that allow confirmation is emphasized, ruling out cross-reactivity with other Flaviviruses.

Introducción: La microcefalia y las anomalías cerebrales congénitas pueden deberse a múltiples etiologías, siendo uno de ellas la infección congénita por el virus Zika (ZIKV). Desde 2016 hasta hoy se han sucedido una serie de brotes del ZIKV en Argentina. Métodos: La Red Nacional de Anomalías Congénitas (RENAC) y el Instituto Nacional de Enfermedades Virales (INEVH), dependientes de la Administración Nacional de Laboratorios e Institutos de Salud "Carlos Malbrán" (ANLIS), realizan la vigilancia intensificada de recién nacidos con microcefalia y anomalías cerebrales. Este trabajo presenta las características clínicas y estudios de laboratorio de los pacientes con infección congénita por ZIKV detectados entre abril de 2016 a marzo 2018. Resultados: se detectaron 10 casos con embriopatía, seis fueron autóctonos y cuatro importados; en dos casos las madres fueron asintomática durante el embarazo; todos los casos presentaron microcefalia y desproporción cráneo facial, ventriculomegalia en siete casos y en seis calcificaciones cerebrales. El diagnóstico de infección congénita por Zika en el recién nacido se realizó por estudios serológicos inmunoglobulina M antígeno específica (MAC-ELISA) y prueba de neutralización por reducción de placas (PRNT90). La PCR fue negativa en todos los casos. Conclusión: Los pacientes presentaron características clínicas coincidentes con las reportadas en otros países Se enfatiza la necesidad de estudios serológicos que permitan la confirmación, descartando la reactividad cruzada con otros Flavivirus.

Congenital limb reduction defects in 1.6 million births in Argentina.

The objectives of this study were to describe the birth prevalence of limb reduction defects (LRD) in Argentina, their clinical features, and to review the literature on this topic. The data source was the National Network of Congenital Anomalies of Argentina, a surveillance system that has been operative since 2009. Data were collected from November 1, 2009 to December 31, 2016. 1,663,610 births and 702 affected patients were registered during this period. The prevalence of LRD was 4.22/10,000 births (CI 95%: 3.93-4.54). In 15,094 stillbirths, prevalence was 30.80/10,000 (CI 95%: 22.31-40.65). Perinatal mortality (stillbirths plus early neonatal deaths) was 24.6%, mostly explained by postnatal deaths. LRD were classified according to different variables, including Gold's anatomic classification. Then, 41.0% of patients had transverse terminal defects and 50.2% had longitudinal defects. We found multiple and syndromic clinical presentation to be associated with both preaxial LRD and lethality. The prevalence of LRD was lower and perinatal mortality was higher in our study compared to that of previously published studies. Because there is heterogeneity in the inclusion and exclusion criteria among publications, a greater effort should be made in order to include similar populations and to use a unified anatomic classification and nomenclature.

Birth prevalence of congenital anomalies in the City of Buenos Aires, Argentina, according to socioeconomic level.

The goal of our study is to describe the prevalence of congenital anomalies (CA) in hospitals of the City of Buenos Aires, Argentina, according to two proxy variables of the socioeconomic level: health subsector, public (PUB) versus private/social security (PRI), and geographical location, northern (N) versus southern (S). The source of data was the National Network of Congenital Anomalies of Argentina (RENAC) (period 2010-2016). From a total of 228,208 births, 4872 newborns with CA were detected (2.14%). The prevalence in PRI-N, PUB-N, PRI-S, and PUB-S hospitals were 1.59%, 1.91%, 2.20%, and 2.43%, respectively. Prevalence of neural tube defects, abdominal wall defects, and oral clefts was significantly higher in PUB than in PRI hospitals. Prevalence of critical heart defects was significantly lower in PUB-N and in PRI-S hospitals. Prevalence of anencephaly, encephalocele, hydrocephalus, microcephaly, gastroschisis, cleft lip and palate, ductus arteriosus, and bilateral renal agenesis was higher in PUB hospitals, both N and S, as well as microphthalmia/anophthalmia and ambiguous genitalia, spina bifida, anotia/microtia, postaxial polydactyly, and diaphragmatic hernia had higher prevalences in PUB-S hospitals. Omphalocele was more frequent in PUB-N hospitals. Results suggest that vulnerable populations in the public and southern subsectors of the city still require a greater support to reinforce resources and strategies that lead to greater equity in access to health.

Prenatal detection of congenital anomalies and related factors in Argentina.

Congenital anomalies (CAs) are a leading cause of neonatal death. Many CAs can be diagnosed prenatally. To estimate the prenatal detection rate (PDR) of CA in hospitals participating in the RENAC (National Network of Congenital Anomalies of Argentina) and to analyze the PDR according to different factors. Sources were reports of RENAC from the 2013-2016 period. Congenital anomalies included were those detectable by ultrasound or by a prenatal karyotype. PDR was calculated by region, health subsector, clinical presentation, maternal age, sex, and twining. Using multiple logistic regression analysis, we evaluated predictors of prenatal detection. In total, 9976 cases were defined as prenatal detectable; 5021 were detected (PDR = 50.3%). Multiple presentation increased the chances of prenatal detection (Adj. OR = 1.6; 95%CI 1.4-1.9). Prenatal detection was lower in the public subsector (Adj. OR = 0.8; 95%CI 0.7-0.9) and in the northern regions of the country. PDR was higher than 75% in isolated cases of urinary malformation, anencephaly, and gastroschisis. Prenatal detection increased the chance of birth in higher complexity-level hospitals (Adj. OR = 2.5; 95%CI 2.3-2.8). PDR was within the range previously reported. Heterogeneity between regions and health subsector suggests the need for training to achieve equity in detection.