Gastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980-2017.

BACKGROUND: Gastroschisis is a serious birth defect with midgut prolapse into the amniotic cavity. The objectives of this study were to evaluate the prevalence and time trends of gastroschisis among programs in the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), focusing on regional variations and maternal age changes in the population. METHODS: We analyzed data on births from 1980 to 2017 from 27 ICBDSR member programs, representing 24 countries and three regions (Europe+ (includes Iran) , Latin America, North America). Cases were identified using diagnostic codes (i.e., 756.7, 756.71, or Q79.3). We excluded cases of amniotic band syndrome, limb-body wall defect, and ruptured omphalocele. Programs provided annual counts for gastroschisis cases (live births, stillbirths, and legally permitted pregnancy terminations for fetal anomalies) and source population (live births, stillbirths), by maternal age. RESULTS: Overall, gastroschisis occurred in 1 of every 3268 births (3.06 per 10,000 births; 95% confidence intervals [CI]: 3.01, 3.11), with marked regional variation. European+ prevalence was 1.49 (95%CI: 1.44, 1.55), Latin American 3.80 (95%CI: 3.69, 3.92) and North American 4.32 (95%CI: 4.22, 4.42). A statistically significant increasing time trend was observed among six European+ , four Latin American, and four North American programs. Women <20 years of age had the highest prevalence in all programs except the Slovak Republic. CONCLUSIONS: Gastroschisis prevalence increased over time in 61% of participating programs, and the highest increase in prevalence was observed among the youngest women. Additional inquiry will help to assess the impact of the changing maternal age proportions in the birth population on gastroschisis prevalence.

Prevalencia de cardiopatías congénitas en una cohorte de 54. 193 nacimientos entre 2011-2017 / Prevalence of congenital heart disease in a cohort of 54, 193 births between 2011-2017

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 <0.05. Results: The prevalence in this cohort was 2.42 x 1,000 births. Of the 131 patients with congenital heart disease, 73 (55.73%) were male; 91 (69.47%) were born with adequate weight for gestational age and 31 (23.66%) were preterm. Of the mothers, 30.53% were between 25 and 29 years old and 42% were primigravid. Regarding CC, the most frequent was interventricular communication with 52 (32.30%) cases; 105 (80.15%) had only one congenital heart disease and 62 (47.33%) had isolated heart disease. The variables of weight for gestational age, maternal age and gestational age, showed a statistically significant association. Conclusions: Congenital cardiopathy is of great interest in public health, given their morbi-mortality and as a cause of death in children under 1 year old in Colombia. Therefore, we must continue to work on strategies that improve surveillance, as well as prenatal diagnosis, treatment and the level of complexity appropriate to each patient.

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

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

Definición diagnóstica en una familia con malattia leventinese en Colombia / Diagnostic definition of malattia leventinese in a family from Colombia

Resumen 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.

Abstract 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 macular 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.

Estado de salud y barreras en la atención de niños con defectos congénitos nacidos entre el 2011 y el 2017 en dos instituciones de salud de Cali / Health status and barriers in health care for children with birth defects born between 2011 and 2017 in two institutions in Cali

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.

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.

Amelogénesis imperfecta en una familia / Amelogenesis imperfecta in a family

Introducción: la amelogénesis imperfecta consiste en un grupo de desórdenes hereditarios que afectan el desarrollo del esmalte dental, de tal forma que se ve comprometida la apariencia clínica de todos o casi todos los dientes, tanto temporales como permanentes. Objetivo: informar las características y condiciones clínicas de la dentición de tres individuos de una misma familia con diagnóstico presuntivo de amelogénesis imperfecta. Presentación de casos: se realizó examen intrabucal a tres individuos con rango de consanguinidad de primer grado (madre y dos hijos) quienes presentaban alterado estructuralmente el esmalte de los dientes. De acuerdo con las características clínicas dentales y el método de Witkop, los individuos fueron diagnosticados de forma presuntiva con amelogénesis imperfecta hipomadura tipo II (madre), caracterizada por hipomaduración del esmalte y fragmentación por desgaste en los bordes incisales; amelogénesis imperfecta hipoplásica tipo I (hijo mayor), con amplias zonas de dentina expuesta opaca y con manchas pardas generalizadas; y amelogénesis imperfecta hipomadura tipo II (hijo menor), con predominio de lesiones en forma de copo de nieve o motas de algodón. Conclusiones: el diagnóstico clínico de la amelogénesis imperfecta basado en métodos fenotípicos resulta impreciso debido a la imposibilidad de establecer el origen de las alteraciones macroestructurales del esmalte. Sin embargo, de acuerdo con la descripción de los tres casos, son las afecciones en la cantidad y calidad del esmalte las que permiten realizar un diagnóstico clínico presuntivo, que guía la implementación de un tratamiento odontológico direccionado a la solución del compromiso estético y a la prevención del compromiso del órgano dentino-pulpar. En esta presentación de casos, la manifestación fenotípica de la enfermedad pasó de la madre a ambos hijos, siendo la amelogénesis imperfecta hipomadura dominante en el hijo menor(AU)

Introduction: amelogenesis imperfecta consists of a group of hereditary disorders that affect the development of the dental enamel in such a way that the clinical appearance of all or almost all primary and permanent teeth is compromised. Objective: report the clinical characteristics and conditions of the dentition of three individuals from the same family with a presumptive diagnosis of amelogenesis imperfecta. Case presentation: intraoral examination was performed of three first-degree relatives (mother and two children) with structurally altered tooth enamel. Based on their clinical dental characteristics and the results of the Witkop method, the individuals were presumptively diagnosed with hypomaturation amelogenesis imperfecta type II (mother), characterized by enamel hypomaturation and fragmentation by wear on the incisal edges; hypoplastic amelogenesis imperfecta type I (elder son), with large areas of opaque exposed dentin and generalized brown spots; and hypomaturation amelogenesis imperfecta type II (younger son), with a predominance of lesions in the shape of snowflakes or cotton wads. Conclusions: clinical diagnosis of amelogenesis imperfecta based on phenotypic methods is imprecise, since it is not possible to establish the origin of the macrostructural alterations of the enamel. However, according to the description of the three cases, quantitative and qualitative damage to the enamel makes it possible to establish a presumptive clinical diagnosis which will guide the implementation of a dental treatment aimed at resolving the aesthetic commitment and preventing involvement of the dentine-pulp complex. In this case presentation, the phenotypic manifestation of the disease passed from the mother to both children, and hypomaturation amelogenesis imperfecta was dominant in the younger son(AU)