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%..

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.

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.

Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis.

The aim of the study is to determine the prevalence, outcomes, and survival (among live births [LB]), in pregnancies diagnosed with trisomy 13 (T13) and 18 (T18), by congenital anomaly register and region. Twenty-four population- and hospital-based birth defects surveillance registers from 18 countries, contributed data on T13 and T18 between 1974 and 2014 using a common data-reporting protocol. The mean total birth prevalence (i.e., LB, stillbirths, and elective termination of pregnancy for fetal anomalies [ETOPFA]) in the registers with ETOPFA (n = 15) for T13 was 1.68 (95% CI 1.3-2.06), and for T18 was 4.08 (95% CI 3.01-5.15), per 10,000 births. The prevalence varied among the various registers. The mean prevalence among LB in all registers for T13 was 0.55 (95%CI 0.38-0.72), and for T18 was 1.07 (95% CI 0.77-1.38), per 10,000 births. The median mortality in the first week of life was 48% for T13 and 42% for T18, across all registers, half of which occurred on the first day of life. Across 16 registers with complete 1-year follow-up, mortality in first year of life was 87% for T13 and 88% for T18. This study provides an international perspective on prevalence and mortality of T13 and T18. Overall outcomes and survival among LB were poor with about half of live born infants not surviving first week of life; nevertheless about 10% survived the first year of life. Prevalence and outcomes varied by country and termination policies. The study highlights the variation in screening, data collection, and reporting practices for these conditions.

Analysis of Mortality among Neonates and Children with Spina Bifida: An International Registry-Based Study, 2001-2012.

BACKGROUND: Medical advancements have resulted in better survival and life expectancy among those with spina bifida, but a significantly increased risk of perinatal and postnatal mortality for individuals with spina bifida remains. OBJECTIVES: To examine stillbirth and infant and child mortality among those affected by spina bifida using data from multiple countries. METHODS: We conducted an observational study, using data from 24 population- and hospital-based surveillance registries in 18 countries contributing as members of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). Cases of spina bifida that resulted in livebirths or stillbirths from 20 weeks' gestation or elective termination of pregnancy for fetal anomaly (ETOPFA) were included. Among liveborn spina bifida cases, we calculated mortality at different ages as number of deaths among liveborn cases divided by total number of liveborn cases with spina bifida. As a secondary outcome measure, we estimated the prevalence of spina bifida per 10 000 total births. The 95% confidence interval for the prevalence estimate was estimated using the Poisson approximation of binomial distribution. RESULTS: Between years 2001 and 2012, the overall first-week mortality proportion was 6.9% (95% CI 6.3, 7.7) and was lower in programmes operating in countries with policies that allowed ETOPFA compared with their counterparts (5.9% vs. 8.4%). The majority of first-week mortality occurred on the first day of life. In programmes where information on long-term mortality was available through linkage to administrative databases, survival at 5 years of age was 90%-96% in Europe, and 86%-96% in North America. CONCLUSIONS: Our multi-country study showed a high proportion of stillbirth and infant and child deaths among those with spina bifida. Effective folic acid interventions could prevent many cases of spina bifida, thereby preventing associated childhood morbidity and mortality.

A consensus statement on birth defects surveillance, prevention, and care in Latin America and the Caribbean.

Birth defects contribute up to 21% of the mortality in those under 5 years of age in Latin America and the Caribbean (LAC), and that burden has been compounded by the Zika virus epidemic. In 2001, the March of Dimes launched a series of biennial assemblies called the International Conference on Birth Defects and Disabilities in the Developing World (ICBD). The latest ICBD, in 2017, convened in Bogotá, Colombia, and was attended by over 300 professionals, policymakers, and donors. The conference attendees, a majority of whom were from LAC, supported a call to action in the form of a consensus statement. The consensus statement lists key actions for maximizing birth defects surveillance, prevention, and care in LAC: 1) improving surveillance; 2) reducing risks for birth defects; 3) fortifying staple foods; 4) preventing and treating infections associated with birth defects; 5) implementing newborn screening; 6) providing care and services for people with birth defects and disabilities; 7) involving governments, civil society, and international agencies; and 8) advancing research for birth defects. Implementation and scale-up of evidence-based interventions using multisectoral and multidisciplinary collaborative approaches were endorsed. LAC countries can leverage technology and social media to advance and advocate for approaches identified in the consensus statement. The consensus statement can be used as a guide by both governments and nongovernmental agencies to take immediate steps for improving the quality of life of those living with birth defects and associated disabilities in the LAC countries.

Los defectos congénitos contribuyen hasta con el 21% de la mortalidad de los menores de 5 años en América Latina y el Caribe (ALC); la epidemia de síndrome congénito por el virus del Zika aumentó esa carga. En el 2001, la organización March of Dimes instituyó una serie de asambleas bienales denominadas Conferencia internacional sobre defectos congénitos y discapacidades en el mundo en desarrollo (ICBD). La más re-ciente, en el 2017, se llevó a cabo en Bogotá (Colombia) y contó con la presencia de más de 300 profesionales, responsables de las políticas y donantes. Los asistentes a la conferencia, en su mayoría de América Latina y el Caribe, apoyaron un llamamiento a la acción en forma de una declaración de consenso. Dicha declaración enumera las acciones clave para potenciar al máximo la vigilancia, la prevención y la atención de los defectos congénitos en América Latina y el Caribe, a saber: 1) mejorar la vigilancia; 2) reducir los factores de riesgo asociados a defectos congénitos; 3) fortificar los alimentos de primera necesidad; 4) prevenir y tratar las infecciones asociadas con los defectos congénitos; 5) instituir programas de tamizaje a los recién nacidos; 6) prestar atención y servicios a las personas con defectos congénitos y discapacidades; 7) hacer participar a los gobiernos, la sociedad civil y los organismos internacionales; y 8) promover la investigación sobre los defectos congénitos. Se respaldaron la ejecución y la ampliación a mayor escala de las intervenciones basadas en evidencia, con enfoques colaborativos multisectoriales y multidisciplinarios. Los países de América Latina y el Caribe pueden aprovechar la tecnología y las redes sociales para impulsar y promover las estrategias mencionadas en la declaración de consenso. Por su parte, tanto los gobiernos como los organismos no gubernamentales pueden usar la declaración de consenso como una guía para adoptar medidas inmediatas para mejorar la calidad de vida de las personas con defectos congénitos y las discapacidades asociadas, en los países de América Latina y el Caribe.

As malformações congênitas constituem 21% das causas de morte em crianças menores de 5 anos na América Latina e no Caribe (ALC) e este ônus tem sido agravado pela epidemia do vírus zika. Em 2001, a March of Dimes lançou uma série de encontros bienais denominada International Conference on Birth Defects and Disabilities in the Developing World (conferência internacional sobre malformações congênitas e deficiências no mundo em desenvolvimento, ICBD). A última ICBD foi realizada em Bogotá, na Colômbia, em 2017 e contou com a participação de mais de 300 profissionais, formuladores de políticas e doadores. Os participantes da conferência, na sua maioria da ALC, demonstraram apoio a um chamado à ação na forma de uma declaração de consenso. Nela, enumeram-se as principais ações para aumentar ao máximo a vigilância, prevenção e atenção às malformações congênitas na ALC: 1) melhorar a vigilância; 2) reduzir os riscos de malformações congênitas; 3) fortificar os gêneros alimentícios de primeira necessidade; 4) prevenir e tratar as infecções associadas às malformações congênitas; 5) implementar testes de detecção em recém-nascidos; 6) prestar atendimento e serviços aos portadores de malformações congênitas e deficiências; 7) atrair a participação de governos, sociedade civil e organismos internacionais e 8) incentivar o progresso da pesquisa na área de malformações congênitas. Foram endossadas a implementação e a expansão das intervenções com fundamentação científica usando enfoques colaborativos multissetoriais e multidisciplinares. Os países da ALC devem se valer de tecnologia e das mídias sociais para promover e defender os enfoques identificados na declaração de consenso. A declaração pode servir como guia aos governos e organismos não governamentais ao tomarem medidas imediatas para melhorar a qualidade de vida de quem vive com malformações congênitas e deficiências associadas nos países da ALC.

[Systems for surveillance of birth defects in Latin America and the Caribbean: present and futureSistemas de vigilância de anomalias congênitas na América Latina e Caribe: presente e futuro]. / Sistemas de vigilancia de anomalías congénitas en América Latina y el Caribe: presente y futuro.

OBJECTIVES: To determine the availability of national systems for surveillance of birth defects in Latin America and the Caribbean and describe their characteristics. METHODS: Cross-sectional study based on a semi-structured, self-administered online survey sent in 2017 by local representative offices of the Pan American Health Organization to authorities at the ministries of health of all countries in Latin America and the Caribbean. The survey obtained information on the availability and characteristics of national systems for surveillance of birth defects in each country. RESULTS: Eleven countries have a national system for surveillance of birth defects: Argentina, Colombia, Costa Rica, Cuba, Dominican Republic, Guatemala, Mexico, Panama, Paraguay, Uruguay, and Venezuela. These systems have heterogeneous features: six are hospital-based; 10 include both live births and stillbirths in their case definition. All the surveillance systems include cases with severe and minor defects, except in Argentina, Colombia, and Guatemala, where only severe birth defects are recorded. Only Argentina, Costa Rica, and Uruguay prepare periodic reports that consolidate and present the results of surveillance. The registries in Argentina and Costa Rica have operational manuals. CONCLUSIONS: The availability of national systems for surveillance of birth defects remains limited and highly heterogeneous in Latin America and the Caribbean. Priority should be given to continued expansion and strengthening of this type of surveillance in these countries.

OBJETIVOS: Conhecer a existência de sistemas nacionais de vigilância de anomalias congênitas na América Latina e Caribe e descrever as características destes sistemas. MÉTODOS: Estudo transversal realizado por meio de uma pesquisa online com uso de questionário semiestruturado e autoaplicado enviado no 2017 pelas representações locais da Organização Pan-Americana da Saúde (OPAS) às autoridades dos ministérios da Saúde em todos os países da América Latina e Caribe. Foram coletados dados sobre a existência de sistema nacional de vigilância de anomalias congênitas e as características destes sistemas. RESULTADOS: Onze países possuem um sistema nacional de vigilância de anomalias congênitas: Argentina, Colômbia, Costa Rica, Cuba, Guatemala, México, Panamá, Paraguai, República Dominicana, Uruguai e Venezuela. Os sistemas são de natureza heterogênea, seis são baseados em registros hospitalares e 10 incluem nascidos vivos e morte fetal na definição de caso. A maioria dos sistemas de vigilância abrange casos de anomalias congênitas maiores e menores, exceto na Argentina, Colômbia e Guatemala em que são registradas apenas as anomalias congênitas maiores. A Argentina, Costa Rica e Uruguai são os únicos países que apresentam relatórios periódicos reunindo os achados da vigilância e a Argentina e Costa Rica possuem manuais operacionais para o registro. CONCLUSÕES: Verificou-se que, na América Latina e no Caribe, os sistemas nacionais de vigilância de anomalias congênitas são ainda em um pequeno número e bastante heterogêneos. É uma prioridade expandir e reforçar esta forma de vigilância nos países da região.

[Descriptive epidemiology of major structural congenital anomalies in Argentina]. / Epidemiología descriptiva de las anomalías congénitas estructurales mayores en Argentina.

The objective of the study is to present the frequency of congenital anomalies (CA) reported to the National Network of Congenital Anomalies of Argentina (RENAC) in the year 2016, as part of its monitoring activities. RENAC is an official, national and hospital-based surveillance system of CA. The case definition includes newborns with major structural CA, external or internal, identified from birth until hospital discharge and detected by physical examination, complementary studies, interventions or autopsy. All live newborns and stillbirths of 500 grams or more were included. The prevalence of CA at birth was calculated as the quotient between the number of live newborns and stillbirths with CA, and the total number of live newborns and stillbirths, for a given period. According to their presentation, the cases with specific CA were classified into isolated, multiple and syndromes. The prevalence at birth of major structural CA was 1.59% (95% confidence intervals 1.55-1.64). The most frequent specific anomalies were: cleft lip and palate, gastroschisis, hydrocephalus, talipes equinovarus, spina bifida, postaxial polydactyly, anorectal malformation, diaphragmatic hernia, renal cysts and esophageal atresia. The most frequent syndrome was Down's. The expected annual cases and the prevalence of selected specific CA were estimated. RENAC data are within values reported in the literature.

Sirenomelia in Argentina: Prevalence, geographic clusters and temporal trends analysis.

BACKGROUND: Sirenomelia is a severe malformation of the lower body characterized by a single medial lower limb and a variable combination of visceral abnormalities. Given that Sirenomelia is a very rare birth defect, epidemiological studies are scarce. The aim of this study is to evaluate prevalence, geographic clusters and time trends of sirenomelia in Argentina, using data from the National Network of Congenital Anomalies of Argentina (RENAC) from November 2009 until December 2014. METHODS: This is a descriptive study using data from the RENAC, a hospital-based surveillance system for newborns affected with major morphological congenital anomalies. We calculated sirenomelia prevalence throughout the period, searched for geographical clusters, and evaluated time trends. RESULTS: The prevalence of confirmed cases of sirenomelia throughout the period was 2.35 per 100,000 births. Cluster analysis showed no statistically significant geographical aggregates. Time-trends analysis showed that the prevalence was higher in years 2009 to 2010. CONCLUSION: The observed prevalence was higher than the observed in previous epidemiological studies in other geographic regions. We observed a likely real increase in the initial period of our study. We used strict diagnostic criteria, excluding cases that only had clinical diagnosis of sirenomelia. Therefore, real prevalence could be even higher. This study did not show any geographic clusters. Because etiology of sirenomelia has not yet been established, studies of epidemiological features of this defect may contribute to define its causes. Birth Defects Research (Part A) 106:604-611, 2016. © 2016 Wiley Periodicals, Inc.

Diprosopus: Systematic review and report of two cases.

BACKGROUND: Diprosopus is a subtype of symmetric conjoined twins with one head, facial duplication and a single trunk. Diprosopus is a very rare congenital anomaly. METHODS: This is a systematic review of published cases and the presentation of two new cases born in Argentina. We estimated the prevalence of conjoined twins and diprosopus using data from the National Network of Congenital Anomalies of Argentina (RENAC). RESULTS: The prevalence of conjoined twins in RENAC was 19 per 1,000,000 births (95% confidence interval, 12-29). Diprosopus prevalence was 2 per 1,000,000 births (95% confidence interval, 0.2-6.8). In the systematic review, we identified 31 diprosopus cases. The facial structures more frequently duplicated were nose and eyes. Most frequent associated anomalies were: anencephaly, duplication of cerebral hemispheres, craniorachischisis, oral clefts, spinal abnormalities, congenital heart defects, diaphragmatic hernia, thoracic and/or abdominal visceral laterality anomalies. One of the RENAC cases and three cases from the literature had another discordant nonmalformed twin. CONCLUSION: The conjoined twins prevalence was similar to other studies. The prevalence of diprosopus was higher. The etiology is still unknown. The presence of visceral laterality anomalies may indicate the link between diprosopus and the alteration or duplication of the primitive node in the perigastrulation period (12-15 days postfertilization). Pregnancies of more than two embryos may be a risk factor for diprosopus. Given the low prevalence of this defect, it would be useful to perform studies involving several surveillance systems and international consortiums. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc. Birth Defects Research (Part A) 106:993-1007, 2016. © 2016 Wiley Periodicals, Inc.

Descriptive study on neural tube defects in Argentina.

BACKGROUND: Neural tube defects (NTDs) are the most common congenital anomalies of the central nervous system. Prevalence of NTDs varies depending on geographic region and folic acid fortification. The main objectives of this study are to analyze the prevalences of NTDs reported to the National Registry of Congenital Anomalies of Argentina (RENAC) during the period 2009 to 2013, to compare them with data from other selected surveillance systems of the Americas, and to evaluate the impact of folic acid fortification on the prevalence of NTDs in Argentina. METHODS: We analyzed changes in prevalence between 2009 and 2013 for the RENAC, and differences in prevalence between RENAC and other surveillance systems. We evaluated changes for the pre and postfortification time periods in Argentina. RESULTS: In Argentina, anencephaly and spina bifida showed no statistically significant variation between 2009 and 2013, and encephalocele showed a statistically significant decline. The RENAC showed a statistically significant higher prevalence for all three defects when compared with surveillance systems from Chile, Colombia, and Costa Rica, and a statistically significant lower birth prevalence than Cuba for anencephaly. No differences were observed when comparing it to the Atlanta-USA and Mexico systems. A significant decrease in prevalence was observed for all three anomalies for the postfortification period in Argentina. CONCLUSION: The characteristics of cases reported to the RENAC are similar to those already reported in the literature. The differences in prevalence between the RENAC and other surveillance systems could be artifactual or real. We confirmed the decrease of prevalence of NTDs after folic acid fortification.

Apert syndrome with omphalocele: a case report.

Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 caused by mutations in the fibroblast growth factor receptor 2 and characterized by coronal craniosynostosis, symmetric bone and skin syndactyly of hands and feet, and craniofacial dysmorphic features. The estimated prevalence of this syndrome is 10 to 15.5 cases per 1,000,000 live births. Apert syndrome has considerable clinical variability. We present a case of Apert syndrome and associated features reported to the National Registry of Congenital Anomalies of Argentina (RENAC). The reported case had omphalocele, esophageal atresia, and mega cisterna magna. The last two signs were reported several times as part of the clinical presentation of Apert syndrome. To our knowledge, this is the second reported case diagnosed with Apert syndrome associated with omphalocele.

Prevalence of congenital anomalies and prenatal diagnosis by birth institution (public vs. non-public): indicators of inequality in access to elective termination of pregnancy for fetal anomalies.

Congenital anomalies (CA) encompass all morphological or functional alterations originating prenatally and present at birth. The prenatal diagnosis of these anomalies can significantly impact the overall health of the pregnant individual and may influence her decision regarding the continuation of the pregnancy. In contexts where safe pregnancy termination is not guaranteed by the state, it can lead to unsafe procedures with severe consequences. In our research, we analyzed epidemiological information on CA to develop potential indicators of inequity in access to safe abortion prior to the legalization of legal termination of pregnancy in Argentina. We included cases from 13 public hospitals and 9 non-public subsector hospitals, from the period 2013-2020. Two groups of specific CA were selected: 1) CA capable of being prenatally diagnosed, and 2) CA related to vascular disruptive events. 10/18 of the selected CA capable of being prenatally diagnosed had a significantly higher prevalence in public hospitals (anencephaly, encephalocele, spina bifida, microcephaly, hydrocephalus, holoprosencephaly, hydranencephaly, diaphragmatic hernia, gastroschisis, bilateral renal agenesis). Non public hospitals had higher prenatal detection. Birth prevalence of CA related with vascular disruptive events (limb reduction, Moebius syndrome, amniotic band sequence) were significantly higher in public hospitals. These results suggest disparities in access to prenatal diagnosis and safe abortion based on socioeconomic status. There was a significant gap in access to prenatal diagnosis for CA and possibly to safe elective abortion depending on the type of institution (public vs. non-public).

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.

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.

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.

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.