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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.

The malattia leventinese is an autosomal dominant inherited disease whose symptoms appear between the second and fourth decades of life. It is characterized by the appearance of drusen located between the retinal pigment epithelium and the Bruch membrane. It is usually associated with low vision and may progress to blindness. The pathogenic variant p.Arg345Trp in the EFEMP1 gene has been associated with this disease. We characterized clinically and molecularly a family with malattia leventinese using a comprehensive approach that involved ophthalmologists, pediatricians, and geneticists. This approach is of great importance since the phenotype of this disease is often confused with acular degeneration. All family members underwent ophthalmological evaluation and DNA extraction from a peripheral blood sample. All exons of the EFEMP1 gene were amplified and sequenced. The pathogenic variant p.Arg345Trp was identified in affected individuals in this family. This is the first report of malattia leventinese in a family with the p.Arg345Trp pathogenic variant in Colombia. The molecular diagnosis of retinal dystrophies is essential to differentiate this type of pathology.La malattia leventinese es una enfermedad hereditaria autosómica dominante, cuyos síntomas se inician entre la segunda y la cuarta décadas de la vida. Se caracteriza por la aparición de drusas localizadas entre el epitelio pigmentario de la retina y la membrana de Bruch; suele reducir la visión drásticamente y progresar a ceguera. La variante patogénica p.Arg345Trp en el gen EFEMP1 se ha asociado con esta enfermedad. Se presenta aquí la caracterización clínica y molecular de una familia con malattia leventinese mediante un manejo integral que involucró a oftalmólogos, pediatras y genetistas, lo que es de gran importancia, ya que el fenotipo de esta enfermedad suele confundirse con la degeneración macular. A todos los individuos de la familia se les hizo la evaluación oftalmológica con imágenes diagnósticas de retina y extracción de ADN a partir de una muestra de sangre periférica. Todos los exones del gen EFEMP1 se amplificaron y secuenciaron. La variante patogénica p.Arg345Trp se identificó en los individuos afectados. Este es el primer reporte de malattia leventinese en una familia con la variante patogénica p.Arg345Trp en Colombia. El diagnóstico molecular de las distrofias retinianas es fundamental para diferenciar este tipo de enfermedades.

Craniofacial microsomia (CFM) represents a spectrum of craniofacial malformations, ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or facial nerve. The genetic causes of CFM remain largely unknown.We performed genome sequencing and linkage analysis in patients and families with microtia and CFM of unknown genetic etiology. The functional consequences of damaging missense variants were evaluated through expression of wild-type and mutant proteins in vitro.We studied a 5-generation kindred with microtia, identifying a missense variant in FOXI3 (p.Arg236Trp) as the cause of disease (logarithm of the odds = 3.33). We subsequently identified 6 individuals from 3 additional kindreds with microtia-CFM spectrum phenotypes harboring damaging variants in FOXI3, a regulator of ectodermal and neural crest development. Missense variants in the nuclear localization sequence were identified in cases with isolated microtia with aural atresia and found to affect subcellular localization of FOXI3. Loss of function variants were found in patients with microtia and mandibular hypoplasia (CFM), suggesting dosage sensitivity of FOXI3.Damaging variants in FOXI3 are the second most frequent genetic cause of CFM, causing 1% of all cases, including 13% of familial cases in our cohort.

Birth defects are structural or functional defects present at birth and are caused by different factors that affect intrauterine development. They are the second most common cause of death under five years of age in Latin America and the Caribbean. In Bogotá and Cali, Colombia, there are two surveillance programs established to evaluate the prevalence of them. The purpose of the following article is to describe the experience and results of the surveillance of the Birth Defects Surveillance Programs in Bogotá and Cali, Colombia, 2002-2019. The information was taken from the surveillance programs that have an active hospital system in some institutions of the city (ECLAMC modality), and use data from the passive national system (Sistema Nacional de Vigilancia en Salud Pública - SIVIGILA) to expand their coverage. From 2002 until 2019, 1,289.650 births have been monitored through one of the surveillance programs, including both methodologies. The importance of surveillance programs relies on the amount of data obtained that allows the development of research, the detection of potential changes throughout time, and the guidance of public policies to improve promotion and prevention strategies.

Worldwide prevalence of neural tube defects is between 1.2 and 124.1 per 10 000 live births. This study analyzes risk factors linked with neural tube defects. The study focused on the Surveillance and Monitoring Programs of Congenital Anomalies databases in Bogota and Cali. Births were monitored between 2001 and 2018. Liveborn or stillborn with neural tube defects were defined as cases, using a case-control ratio of 1:4. Paternal age, folic acid supplementation, birth weight, urban or rural origin, maternal and paternal studies, and socioeconomic levels were analyzed. Across the 215 730 births monitored, 147 cases with a rate of 6.82/10 000 live births were found (6.79-6.85). In isolated cases, lower birth weight had a P 45 years showed an odds ratio (OR) of 4.24 (1.54-11.65), socioeconomic status 1 and 2, OR of 2.49 (1.63-3.82), maternal primary schooling or lower OR 2.61 (1.28-5.31), and housing in urban areas OR 2.4 (1.4-4.09).

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.

Resumen Introducción. Los defectos congénitos afectan entre el 2 y el 3 % de los recién nacidos, y son una carga importante entre las causas de morbilidad y mortalidad infantil en los primeros cinco años de vida. En Colombia, fueron la segunda causa de mortalidad infantil según los reportes del Departamento Administrativo Nacional de Estadística (DANE) para el 2011. Objetivo. Describir el estado de salud y las barreras en la atención de niños con defectos congénitos nacidos entre el 2011 y el 2017 en dos instituciones de salud de Cali. Materiales y métodos. Se hizo un estudio observacional descriptivo de corte transversal. Se incluyeron los nacidos entre enero de 2011 y diciembre de 2017 con, al menos, un defecto congénito, a quienes se les hizo seguimiento telefónico. Resultados. De 54.193 nacidos en el período analizado, 1.389 (2,56 %) tenían, por lo menos, un defecto congénito. Todos los casos se clasificaron según la escala de pronóstico y se incluyeron 881 en el seguimiento. El defecto congénito más frecuente fue la malformación congénita cardíaca, con 88 (9,99 %) casos; en segundo lugar, las malformaciones o defectos del riñón, con 73 (8,29 %) casos; en tercer lugar, el síndrome de Down, con 72 (8,17 %) casos, y en cuarto lugar, las anormalidades testiculares, con 56 (6,36 %). Ciento sesenta y uno (35,46 %) de los cuidadores de los 454 casos con seguimiento efectivo, manifestaron haber encontrado, por lo menos, un tipo de barrera en la atención. Conclusión. Se deben implementar programas de seguimiento de los pacientes con defectos congénitos, que contribuyan a disminuir la morbimortalidad. Abstract Introduction: Birth defects affect 2-3% of births contributing an important load to the causes of infant morbidity and mortality during the first five years of life. In Colombia, they are the second cause of infant mortality according to reports from the Departamento Administrativo Nacional de Estadística (DANE) 2011. Objective: To describe the state of health and barriers in the health care of children with congenital defects born between 2011 and 2017 in two institutions of Cali. Materials and methods: We conducted a descriptive cross-sectional observational study. We included babies born between January, 2011, and December, 2017, with at least one congenital defect who were followed up by telephone. Results: Out of 54,193 births during the period, 1,389 (2.56%) newborns had at least one congenital defect. All cases were classified according to the prognostic scale and 881 were included in the follow-up. The most frequent congenital defect was congenital cardiac malformation with 88 cases (9.99%), followed by malformation/defect of the kidney with 73 cases (8.29%), Down syndrome with 72 cases (8.17%), and testicular abnormalities with 56 cases (6.36%). Out of the 454 cases with effective follow-up, 161 (35.46%) of the caregivers stated that they had experienced at least one type of barrier during health care. Conclusion: Follow-up programs should be implemented for patients with birth defects to contribute to reducing morbidity and mortality.

Antecedentes en Colombia para el 2015 las anomalías del Sistema Nervioso Central (SNC) constituyeron el 16% de la mortalidad por anomalías congénitas, una tasa de sobrevida alta que genera cronicidad en el manejo del paciente y aumento en la carga socioeconómica. Objetivo describir las características clínicas y prevalencia de las anomalías del SNC en Bogotá y Cali del 2001 al 2016. Métodos La información se obtuvo de los Programas de Vigilancia y Seguimiento de Anomalías Congénitas de Bogotá y Cali, realizando un análisis retrospectivo basado en casos y controles del ECLAMC. Se clasificaron los casos por grupos: aislados, polimalformados y sindrómicos. La proporción de casos y controles fue 1:4 respectivamente. Se analizó la distribución de frecuencias y las variables cuantitativas con prueba t de Student. Resultados Se encontraron 924 anomalías del SNC de 488 521 nacimientos y 3696 controles, para una tasa de 18.91/10 000 nacidos vivos. Las malformaciones más frecuentes fueron hidrocefalia (4.24/10 000), microcefalia (3.95/10 000) y defectos del tubo neural (DTN) (3.54/10 000). Se encontró diferencia estadísticamente significativa entre peso, talla y edad gestacional entre casos y controles. Conclusión Colombia continúa presentando una alta prevalencia de anomalías del SNC, sin embargo, se observa una tendencia a la reducción cuando se compara con las tasas de otros países. Se pudo concluir además la fuerte asociación de las anomalías congénitas del SNC con el parto pretérmino y prematuro, lo que tiene un alto impacto en la morbimortalidad y discapacidad.

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.

Children with craniofacial microsomia (CFM) are at increased risk for educational and social concerns. This study describes intervention services and frequency of teasing in a multinational population of children with CFM. Caregivers of children with CFM ages 3 to 18 years in the US and South America were administered a questionnaire. Additional information was gathered from medical charts and photographs. Participants (N = 169) had an average age of 10.1 ± 6.2 years, were primarily male (60%), and from the US (46%) or Colombia (32%). Most participants had microtia and mandibular hypoplasia (70%). They often had unilateral (71%) or bilateral (19%) hearing loss and 53% used a hearing aid. In the US, special education services were provided for 48% of participants enrolled in school; however, similar services were rare (4%) in South America and reflect differences in education systems. Access to any intervention service was higher in the US (80%) than in South America (48%). Caregivers reported children showed diagnosis awareness by an average age of 4.4 ± 1.9 years. Current or past teasing was reported in 41% of the children, starting at a mean age of 6.0 ± 2.4 years, and most often took place at school (86%). As half of the US participants received developmental and academic interventions, providers should screen for needs and facilitate access to services. Given diagnosis awareness at age 4 and teasing at age 6, providers are encouraged to assess for psychosocial concerns and link to resources early in treatment.

Birth defects (BDs) are structural or functional anomalies, sporadic or hereditary, of prenatal origin. Public health surveillance is defined as the ongoing systematic collection, analysis, and interpretation of outcome-specific data for use in the planning, implementation, and evaluation of public health practice. BD surveillance systems may have different characteristics according to design, coverage, type of surveillance, case ascertainment, case definition, BD description, maximum age of diagnosis, pregnancy outcomes, coding systems, and the location of the coding process (central or local). The aim of this article is to describe and compare methodology, applications, and results of birth defect surveillance systems in two South-American countries: Colombia and Argentina. In both countries, the surveillance systems developed activities in relation to the Zika virus emergency. For most BDs, a statistically significant higher prevalence is observed in Argentina-RENAC than in Colombian registries. This may be due to methodological reasons or real differences in prevalence. The strengths, weaknesses, and the future perspectives of the Argentine and Colombian systems are presented. When developing a surveillance system, the objectives, the available resources, and previous experiences in similar contexts must be taken into account. In that sense, the experience of Argentina and Colombia can be useful for others when developing a birth defect surveillance system. Fil: Groisman, Boris. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; Argentina Fil: Liascovich, Rosa. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; Argentina Fil: Bidondo, Maria Paz. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; Argentina Fil: Barbero, Pablo Miguel. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; Argentina Fil: Duarte, Santiago Pablo. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; Argentina Fil: Tellechea, Ana Laura. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán". Centro Nacional de Genética Médica; Argentina Fil: Holguín, Jorge. Pontificia Universidad Javeriana; Colombia Fil: Rodríguez, Catherine. Secretaría Distrital de Salud; Colombia Fil: Hurtado Villa, Paula. Pontificia Universidad Javeriana; Colombia Fil: Caicedo, Natalia. Pontificia Universidad Javeriana; Colombia Fil: Botta, Gabriela. Pontificia Universidad Javeriana; Colombia Fil: Zarante Montoya, Ignacio Manuel. Pontificia Universidad Javeriana; Colombia

Resumen Objetivo: Describir la prevalencia de las cardiopatías congénitas en dos hospitales de Cali entre 2011-2017. Método: Se realizó un estudio retrospectivo de una cohorte de 54.193 nacimientos en dos hospitales de Cali, que incluyó recién nacidos desde el 1.º de enero 2011 hasta el 31 de diciembre de 2017 captados en el programa de vigilancia y seguimiento de defectos congénitos. Inicialmente se hizo un análisis descriptivo de los pacientes con cardiopatías y luego se analizó la relación de algunas variables con un chi-cuadrado (C2) con una significancia de p-valor < 0,05. Resultados: La prevalencia en esta cohorte fue de 2,42 por 1.000 nacimientos. De los 131 pacientes con cardiopatías congénitas, 73 (55,73%) eran de sexo masculino; 91 (69,47%) nacieron con peso adecuado para la edad gestacional y 31 (23,66%) fueron pretérmino. De las madres, 30,53% se encontraban entre 25 y 29 años y 42% eran primigrávidas. Respecto a las cardiopatías congénitas, la más frecuente fue la comunicación interventricular con 52 (32,30%) casos; 105 (80,15%) tenían una sola cardiopatía congénita y 62 (47,33%) tenían cardiopatías aisladas. Las variables de peso para edad gestacional, edad materna y edad gestacional mostraron una relación estadísticamente significativa. Conclusiones: Las cardiopatías congénitas son de gran interés en salud pública dada su morbi-mortalidad y por ser causa de muerte en menores de un año en Colombia. Por lo tanto, se debe continuar trabajando en estrategias que mejoren su vigilancia, así como el diagnóstico prenatal, el tratamiento y el nivel de complejidad adecuado para cada paciente. Abstract Objective: To describe the prevalence of congenital heart disease in two hospitals of Cali in between 2011 and 2017. Method: A retrospective study of a cohort of 54,193 births was carried out in two hospitals of Cali, which included newborns from January 1, 2011 to December 31, 2017, captured through the surveillance program and monitoring of birth defects. Initially, a descriptive analysis of patients with congenital heart disease was performed, and the association of some variables with a chi-square (C2) with a p-value significance

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.

Craniofacial microsomia (CFM) is the second most common congenital facial anomaly, yet its genetic etiology remains unknown. We perform whole-exome or genome sequencing of 146 kindreds with sporadic (n = 138) or familial (n = 8) CFM, identifying a highly significant burden of loss of function variants in SF3B2 (P = 3.8 × 10−10), a component of the U2 small nuclear ribonucleoprotein complex, in probands. We describe twenty individuals from seven kindreds harboring de novo or transmitted haploinsufficient variants in SF3B2. Probands display mandibular hypoplasia, microtia, facial and preauricular tags, epibulbar dermoids, lateral oral clefts in addition to skeletal and cardiac abnormalities. Targeted morpholino knockdown of SF3B2 in Xenopus results in disruption of cranial neural crest precursor formation and subsequent craniofacial cartilage defects, supporting a link between spliceosome mutations and impaired neural crest development in congenital craniofacial disease. The results establish haploinsufficient variants in SF3B2 as the most prevalent genetic cause of CFM, explaining ~3% of sporadic and ~25% of familial cases., Despite being a common congenital facial anomaly, the genetic etiology of craniofacial microsomia (CFM) is not well understood. Here, the authors use exome and genome sequencing of 146 individuals with CFM to identify haploinsufficient variants in SF3B2 as a prevalent underlying cause.

Background Craniofacial microsomia (CFM), also known as the oculo‐auriculo‐vertebral spectrum, comprises a variable phenotype with the most common features including microtia and mandibular hypoplasia on one or both sides, in addition to lateral oral clefts, epibulbar dermoids, cardiac, vertebral, and renal abnormalities. The etiology of CFM is largely unknown. The MYT1 gene has been reported as a candidate based in mutations found in three unrelated individuals. Additional patients with mutations in this gene are required to establish its causality. We present two individuals with CFM that have rare variants in MYT1 contributing to better understand the genotype and phenotype associated with mutations in this gene. Methods/Results We conducted genetic analysis using whole‐exome and ‐genome sequencing in 128 trios with CFM. Two novel MYT1 mutations were identified in two participants. Sanger sequencing was used to confirm these mutations. Conclusion We identified two additional individuals with CFM who carry rare variants in MYT1, further supporting the presumptive role of this gene in the CFM spectrum., We conducted genetic analysis using whole‐exome and ‐genome sequencing in 128 trios with CFM. Two novel MYT1 mutations were identified in two participants, further supporting the presumptive role of this gene in the CFM spectrum.

ObjectiveThe 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).DesignNine 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.ResultsThe 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.ConclusionsThe prevalence of microcephaly was influenced both by Zika causing congenital Zika syndrome and by increased reporting awareness.

El síndrome de Freeman Sheldon (SFS), descrito como parte del grupo de artrogriposis distales, se caracteriza por anomalías óseas y contracturas articulares con facies particulares. La prevalencia del SFS no se conoce con exactitud, pero existen menos de 100 reportes en la literatura. El objetivo del presente reporte es realizar la revisión de la literatura actual sobre SFS a través del reporte de un caso, señalando la importancia que tiene el diagnóstico del síndrome y las intervenciones oportunas, sobre la calidad de vida del paciente y su familia.Se presenta un caso correspondiente a una paciente femenina, recién nacida producto de un primer embarazo (G1C1) de 38 semanas de gestación, de una madre de 33 años de edad sin antecedentes patológicos. La paciente presenta mentón en H, microstomía (“boca silbante”), desviación radial de ambos pulgares y pie equino varo bilateral. El SFS se caracteriza por contracturas musculares faciales y en extremidades. El mecanismo de herenciamás comúnmente descrito ha sido autosómico dominante, sin embargo, se han reportado casos de herencia autosómica recesiva. La mutación del gen MYH3 ha sido descrita como causante de las características fenotípicas del SFS. En cuanto al pronóstico de estos pacientes, en general es bueno, dado que no tienen compromiso neurológico. Los problemas alimentarios y respiratorios ocasionados por la microstomía y demás características fenotípicas faciales requieren de un manejo multidisciplinario por diferentes especialidades, así como también para el manejo de los hallazgos en las extremidades. El SFS es una enfermedad rara, caracterizada por una displasia congénita, la cual se diagnostica principalmente por clínica con los hallazgos fenotípicos de contracturas faciales y en extremidades, como se realizó en este reporte de caso, se debe capacitar al personal médico sobre la existencia y las características de esta patología para diagnosticar de forma oportuna y tratar sus complicaciones de manera temprana. Abstract Freeman Sheldon syndrome (FSS), described as part of the distal arthrogryposis group, is characterized by bony anomalies and joint contractures with particular facies. The prevalence of FSS is not known with accuracy, but there are less than 100 reports in the literature. he objective of the present report is to review the current literature on FSS through the report of a case, pointing out the importance of the diagnosis of the syndrome and the timely interventions on the quality of life of the patient and his family. Female patient, newborn born of a first pregnancy (G1C1) of 38 weeks’ gestation, of a 33-year-old mother with no pathological history. The patient had chin in H, microstomy (“whistling face”), radial deviation of both thumbs and bilateral varus equine foot. FSS is characterized by muscular contractures of the face and extremities. The most commonly described mechanism of inheritance has been autosomal dominant, however, sporadic cases of autosomal recessive inheritance have been reported. The mutation of the MYH3 gene has been described as causing the phenotypic characteristics of the FSS. As for the prognosis of these patients, in general it is good, since they do not have neurological compromise. The food and respiratory problems caused by microstomia and other facial phenotypic characteristics require multidisciplinary management by different specialties, as well as for the management of limb findings. FSS is a rare disease, characterized by congenital dysplasia, which is diagnosed mainly by clinical phenotypical findings of facial and extremity contractures, as was done in this case report, medical personnel should be trained on the existence and characteristics of this pathology to diagnose in a timely manner and treat its complications early. Key words: Freeman-Sheldon syndrome, distal arthrogryposis type 2a, myopathy, microstomia.

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.

La infección por virus del Zika corresponde a una de las epidemias de gran impacto en las Américas definida como emergencia de salud pública de importancia internacional (ESPII) en 2016 por la OMS, caracterizándose por un cuadro clínico autolimitado con vías de transmisión sexual, vertical y vectorial de gran impacto en el trópico. Se han descrito malformaciones congénitas en hijos de mujeres que cursaron con la infección durante la gestación, que afectan al sistema nervioso central, como es el caso de microcefalia, entre otras malformaciones estructurales de carácter irreversible; por otro lado, en adultos después de terminado el curso clínico de la infección se ha encontrado ARN del virus hasta seis meses después en algunos hombres, esto propone identificar posibles riesgos en la transmisión de la enfermedad después de resuelto el cuadro clínico y, en la fecundación y gestación en parejas con antecedente de la infección. Las recomendaciones propuestas en relación a la reproducción y a la prevención de la transmisión sexual del ZIKV están fundamentadas en aspectos epidemiológicos y en hallazgos de diferentes estudios y reportes de caso en donde se tiene en cuenta hallazgo del virus en secreciones vaginales y en semen, datos que delimitan un tiempo para el momento adecuado. En el caso de los hombres, deberán esperar de tres a seis meses y las mujeres deberán esperar alrededor de ocho semanas para tener relaciones sexuales con fines conceptivos. Además, durante el embarazo se deberán utilizar métodos de barrera para la prevención de la transmisión de la infección y un posible síndrome congénito. Abstract: The Zika virus infection corresponds to one of the epidemics of great impact in the Americas defined as a public health emergency of international importance (ESPII) in 2016 by the WHO, characterized by a self-limited disease with sexual, vertical and by vectors transmission routes, of great impact in the tropics. Congenital malformations have been described in children of women who had infection during pregnancy that affect the central nervous system, as is the case of microcephaly, among other irreversible structural malformations, on the other hand, in adults after the end of the course during the clinical setting of the infection virus, RNA has been found up to 6 months later in some men, this proposes to identify possible risks in the transmission of the disease after the clinical setting is resolved and the fertilization and gestation in couples with a history of infection. The proposed recommendations in relation to the reproduction and prevention of sexual transmission of the ZIKV are based on epidemiological aspects and findings of different studies and case reports where it is taken into account finding of the virus in vaginal secretions and semen, data that they delimit a time for the right moment. In the case of men, they should wait for three to six months and women should wait around eight weeks to have sex for conceptual purposes. In addition, during pregnancy, barrier methods should be used to prevent the transmission of infection and a possible congenital syndrome. Key words: Zika virus, time-to-Pregnancy, reproduction, transmission, congenital, microcephaly.

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.

Introduction: Birth defects affect 2-3% of births contributing an important load to the causes of infant morbidity and mortality during the first five years of life. In Colombia, they are the second cause of infant mortality according to reports from the Departamento Administrativo Nacional de Estadística (DANE) 2011. Objective: To describe the state of health and barriers in the health care of children with congenital defects born between 2011 and 2017 in two institutions of Cali. Materials and methods: We conducted a descriptive cross-sectional observational study. We included babies born between January, 2011, and December, 2017, with at least one congenital defect who were followed up by telephone. Results: Out of 54,193 births during the period, 1,389 (2.56%) newborns had at least one congenital defect. All cases were classified according to the prognostic scale and 881 were included in the follow-up. The most frequent congenital defect was congenital cardiac malformation with 88 cases (9.99%), followed by malformation/defect of the kidney with 73 cases (8.29%), Down syndrome with 72 cases (8.17%), and testicular abnormalities with 56 cases (6.36%). Out of the 454 cases with effective follow-up, 161 (35.46%) of the caregivers stated that they had experienced at least one type of barrier during health care. Conclusion: Follow-up programs should be implemented for patients with birth defects to contribute to reducing morbidity and mortality.Introducción. Los defectos congénitos afectan entre el 2 y el 3 % de los recién nacidos, y son una carga importante entre las causas de morbilidad y mortalidad infantil en los primeros cinco años de vida. En Colombia, fueron la segunda causa de mortalidad infantil según los reportes del Departamento Administrativo Nacional de Estadística (DANE) para el 2011. Objetivo. Describir el estado de salud y las barreras en la atención de niños con defectos congénitos nacidos entre el 2011 y el 2017 en dos instituciones de salud de Cali. Materiales y métodos. Se hizo un estudio observacional descriptivo de corte transversal. Se incluyeron los nacidos entre enero de 2011 y diciembre de 2017 con, al menos, un defecto congénito, a quienes se les hizo seguimiento telefónico. Resultados. De 54.193 nacidos en el período analizado, 1.389 (2,56 %) tenían, por lo menos, un defecto congénito. Todos los casos se clasificaron según la escala de pronóstico y se incluyeron 881 en el seguimiento. El defecto congénito más frecuente fue la malformación congénita cardíaca, con 88 (9,99 %) casos; en segundo lugar, las malformaciones o defectos del riñón, con 73 (8,29 %) casos; en tercer lugar, el síndrome de Down, con 72 (8,17 %) casos, y en cuarto lugar, las anormalidades testiculares, con 56 (6,36 %). Ciento sesenta y uno (35,46 %) de los cuidadores de los 454 casos con seguimiento efectivo, manifestaron haber encontrado, por lo menos, un tipo de barrera en la atención. Conclusión. Se deben implementar programas de seguimiento de los pacientes con defectos congénitos, que contribuyan a disminuir la morbimortalidad.

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. Fil: Bakker, Marian K.. University of Groningen; Países Bajos Fil: Kancherla, Vijaya. University of Emory; Estados Unidos Fil: Canfield, Mark A.. No especifíca; Fil: Bermejo-Sanchez, Eva. Instituto de Salud Carlos Iii (isciii); España Fil: Cragan, Janet D.. Centers for Disease Control and Prevention; Estados Unidos Fil: Dastgiri, Saeed. University Of Medical Sciences Tabriz; Irán Fil: De Walle, Hermien E. K.. Pontificia Universidad Javeriana; Colombia Fil: Feldkamp, Marcia L.. No especifíca; Fil: Groisman, Boris. Dirección Nacional de Instituto de Investigación.Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Gatt, Miriam. Pontificia Universidad Javeriana; Colombia Fil: Hurtado Villa, Paula. Lund University; Suecia Fil: Kallen, Karin. No especifíca; Fil: Landau, Daniella. Sorbonne University; Francia Fil: Lelong, Nathalie. No especifíca; Fil: López Camelo, Jorge Santiago. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. CEMIC-CONICET. Centro de Educaciones Médicas e Investigaciones Clínicas "Norberto Quirno". CEMIC-CONICET; Argentina Fil: Martínez, Laura. Singleton Hospital; Reino Unido Fil: Morgan, Margery. No especifíca; Fil: Mutchinick, Osvaldo M.. No especifíca; Fil: Nembhard, Wendy N.. No especifíca; Fil: Pierini, Anna. No especifíca; Fil: Rissmann, Anke. Otto-von-Guericke-Universität Magdeburg; Alemania Fil: Sipek, Antonin. No especifíca; Fil: Szabova, Elena. No especifíca; Fil: Tagliabue, Giovanna. No especifíca; Fil: Wertelecki, Wladimir. No especifíca; Fil: Zarante, Ignacio. Pontificia Universidad Javeriana; Colombia Fil: Mastroiacovo, Pierpaolo. No especifíca

Zika virus infection during pregnancy is now known to cause congenital microcephaly and severe brain defects. In 2016, rates of microcephaly appeared to start increasing around May, peaking in July, and declining through December. The occurrence of microcephaly appears to have increased nearly 4-fold in 2 large cities in Colombia, concurrently with the reported Zika virus epidemic in the country.

Objectives: Among congenital craniofacial anomalies, orofacial clefts (OFCs) are the most common. Global prevalence is 2 in 1000 and in Colombia, 1 in 700. Our goal was to describe cleft palate (CP) prevalence and cleft lip with or without cleft palate (CL±P) from 2001 to 2015 in Bogota and Cali, Colombia. Method: Using the ECLAMC case-control design method, information was obtained from the Congenital Anomalies Monitoring and Surveillance Programs in Bogota and Cali. We describe the prevalence of cases classified into the following groups: isolated, polymalformed, and syndromic. The proportion of cases and controls was 1:4. Data were analyzed using frequency distribution and Student t test to compare means and 95% confidence intervals (CIs). Results: We identified 529 OFC cases and 2116 controls from 448,930 births: a rate of 11.8 per 10,000 (CI = 10.80-12.83). From the total cases, 73% were identified with CL/CP compared to 27% with CP. Males had higher CL±P (59%) prevalence, whereas the highest neonatal mortality was observed among polymalformed cases (7%). The most common anomaly identified among our cases was cleft lip without isolated cleft palate (58%). We found that OFCs are linked to birthweight, size, and gestational age and higher parity with statistically significant differences in all variables compared to controls. Conclusions: OFC is a highly prevalent anomaly in Colombia, with a range of maternal and infant differences across case subgroups. The identification of important OFC subgroups that follow certain patterns of prevalence may prove useful to primary and tertiary care facilities with the goal of reducing further disability.