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1.
J Community Genet ; 2021 Mar 31.
Artículo en Inglés | MEDLINE | ID: mdl-33786756

RESUMEN

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

2.
Rev. argent. salud publica ; 13: 1-8, 5/02/2021.
Artículo en Español | LILACS, BINACIS, ARGMSAL | ID: biblio-1147271

RESUMEN

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


Asunto(s)
Aberraciones Cromosómicas , Genética Médica , Cardiopatías
3.
Rev Fac Cien Med Univ Nac Cordoba ; 77(2): 100-105, 2020 04 07.
Artículo en Español | MEDLINE | ID: mdl-32558512

RESUMEN

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


Asunto(s)
Microcefalia/virología , Complicaciones Infecciosas del Embarazo/virología , Infección por el Virus Zika/complicaciones , Argentina/epidemiología , Femenino , Humanos , Recién Nacido , Masculino , Microcefalia/diagnóstico , Microcefalia/epidemiología , Embarazo , Complicaciones Infecciosas del Embarazo/epidemiología , Infección por el Virus Zika/epidemiología
4.
Surg Neurol Int ; 11: 122, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32494397

RESUMEN

Background: Despite surgical resection of primary central nervous system lymphomas (PCNSL) having been always discouraged, recent evidence supports that it might improve prognosis in this patient population. Five- aminolevulinic acid-derived fluorescence is widely used for the resection of malignant gliomas, but its role in PCNSL surgery remains unclear. Case Description: We present two patients with a solitary solid intraparenchymal mass. As high-grade glioma leaded the list of differential diagnosis (other possibilities were metastasis, abscess, and PCNSL), a five- aminolevulinic acid-guided complete resection (with strong fluorescence in both cases) was done. Surgery was uneventfully carried on with complete resection until five-aminolevulinic acid-induced fluorescence was no longer evident. After surgery, patients have no neurological deficits and had good recovery. Pathological examination revealed that both tumors were PCNSL. Adjuvant radiotherapy and chemotherapy were started. After 1 year of follow-up, patients have good evolution and have no recurrences. Conclusion: These cases add to the growing literature which shows that surgery might play an important role in the management of PCNSL with an accessible and single lesion. Five-aminolevulinic acid could also be a useful tool to achieve complete resection and improve prognosis in this group of patients.

5.
Am J Med Genet A ; 182(5): 1084-1092, 2020 05.
Artículo en Inglés | MEDLINE | ID: mdl-32112602

RESUMEN

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.

6.
J Community Genet ; 11(3): 303-311, 2020 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-31900751

RESUMEN

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

7.
J Community Genet ; 11(3): 313-320, 2020 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-31900752

RESUMEN

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

10.
Salud Colect ; 15: e1863, 2019 Jul 29.
Artículo en Español | MEDLINE | ID: mdl-31365691

RESUMEN

The aim of this study was to describe the prevalence at birth of Down syndrome in Argentina. The prevalence by jurisdiction and maternal age was calculated for the 2009-2015 period and the prevalence and proportion of prenatal diagnosis was compared according to sub-sector (public and private) and complexity level of the maternity wards. The association of Down syndrome with birth weight and gestational age was analyzed. The data source was the National Network of Congenital Anomalies of Argentina [Red Nacional de Anomalías Congénitas] (RENAC). The prevalence was 17.26 per 10,000 births; by jurisdictions it varied between 10.99 and 23.71; and by maternal age, between 10.32 in women <20 years of age and 158.06 in those ≥45 years of age. In hospitals of the private subsector there was a higher prevalence, attributable to differences in the structure of maternal age, and a greater proportion of prenatal diagnosis. There was a negative correlation between birth weight and Down syndrome (ß=-294.7; p<0.001). No difference in the median gestational age at birth between Down syndrome newborns and newborns without major anomalies was found, but the distribution of gestational age differed. Knowledge of certain epidemiological characteristics of this health issue could contribute to the implementation of health policies.


Asunto(s)
Síndrome de Down/epidemiología , Argentina/epidemiología , Peso al Nacer , Femenino , Humanos , Recién Nacido , Masculino , Edad Materna , Prevalencia , Factores de Riesgo
11.
Arch. argent. pediatr ; 117(4): 377-381, ago. 2019. ilus
Artículo en Español | LILACS, BINACIS | ID: biblio-1054940

RESUMEN

El síndrome lumbocostovertebral se define por la presencia de hernia lumbar, hemivértebras y anomalías costales. El objetivo de este trabajo es describir el primer caso reportado en Argentina. El paciente fue comunicado a la Red Nacional de Anomalías Congénitas de Argentina. Se describe el cuadro clínico, los diagnósticos diferenciales y los posibles mecanismos patogénicos involucrados. Se sugiere que esta entidad sea considerada como una asociación. La hernia lumbar en un recién nacido es un hallazgo infrecuente y debe pesquisarse la presencia de otras anomalías asociadas.


Lumbocostovertebral syndrome is defined by the presence of lumbar hernia, hemivertebrae and costal anomalies. Our aim was to describe the first case reported in Argentina. The patient was reported to the National Registry of Congenital Anomalies of Argentina. The clinical picture, differential diagnoses and possible pathogenic mechanisms involved are described. We suggest considering this as a lumbocostovertebral association. Lumbar hernia in a newborn is an infrequent finding and other associated anomalies should be evaluated.


Asunto(s)
Humanos , Masculino , Recién Nacido , Costillas/anomalías , Escoliosis/congénito , Hernia/congénito , Costillas/diagnóstico por imagen , Escoliosis/diagnóstico por imagen , Columna Vertebral/anomalías , Anomalías Múltiples/embriología
12.
Arch Argent Pediatr ; 117(4): e377-e381, 2019 08 01.
Artículo en Español | MEDLINE | ID: mdl-31339279

RESUMEN

Lumbocostovertebral syndrome is defined by the presence of lumbar hernia, hemivertebrae and costal anomalies. Our aim was to describe the first case reported in Argentina. The patient was reported to the National Registry of Congenital Anomalies of Argentina. The clinical picture, differential diagnoses and possible pathogenic mechanisms involved are described. We suggest considering this as a lumbocostovertebral association. Lumbar hernia in a newborn is an infrequent finding and other associated anomalies should be evaluated.


Asunto(s)
Anomalías Múltiples/diagnóstico , Desplazamiento del Disco Intervertebral/diagnóstico , Costillas/anomalías , Columna Vertebral/anomalías , Argentina , Humanos , Recién Nacido , Vértebras Lumbares , Masculino , Fenotipo , Síndrome
13.
Artículo en Español | PAHO-IRIS | ID: phr-50989

RESUMEN

[RESUMEN]. Objetivos. Conocer la disponibilidad de los sistemas nacionales de vigilancia de anomalías congénitas en América Latina y el Caribe y describir sus características. Métodos. Estudio transversal mediante una encuesta semiestructurada y autoadministrada en línea remitida en el 2017 por las representaciones locales de la Organización Panamericana de la Salud a las autoridades de los ministerios de salud de todos los países de América Latina y el Caribe. La encuesta recabó información sobre la disponibilidad de un sistema nacional de vigilancia de anomalías congénitas en el país y sus características. Resultados. Once países cuentan con sistema nacional de vigilancia de anomalías congénitas: Argentina, Colombia, Costa Rica, Cuba, Guatemala, México, Panamá, Paraguay, República Dominicana, Uruguay y Venezuela. Los sistemas tienen características heterogéneas: 6 son sistemas de base hospitalaria; 10 incluyen en su definición de caso los nacidos vivos y los fetos muertos. En todos los sistemas de vigilancia se incluyen los casos con anomalías mayores y menores, excepto en Argentina, Colombia y Guatemala que solo registran anomalías congénitas mayores. Solo Argentina, Costa Rica y Uruguay elaboran informes periódicos que consolidan y presentan los resultados de la vigilancia; los registros de Argentina y Costa Rica disponen de manuales operativos. Conclusiones. Se comprobó la aún escasa disponibilidad de sistemas nacionales de vigilancia de anomalías congénitas en América Latina y el Caribe y su elevada heterogeneidad. Es prioritario avanzar hacia la expansión y el fortalecimiento de este tipo de vigilancia en nuestros países.


[ABSTRACT]. 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.


[RESUMO]. 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.


Asunto(s)
Anomalías Congénitas , Servicios de Vigilancia Epidemiológica , América Latina , Región del Caribe , Anomalías Congénitas , Servicios de Vigilancia Epidemiológica , América Latina , Región del Caribe , Anomalías Congénitas , Servicios de Vigilancia Epidemiológica , Región del Caribe
14.
Rev Panam Salud Publica ; 43: e44, 2019.
Artículo en Español | MEDLINE | ID: mdl-31139210

RESUMEN

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.

15.
Birth Defects Res ; 111(6): 324-332, 2019 04 01.
Artículo en Inglés | MEDLINE | ID: mdl-30746866

RESUMEN

BACKGROUND: Quality control and improvement are a key part of the implementation of an effective surveillance program. Data quality indicators (DQI) are key tools but have not been widely used, especially in a low-resource setting. METHODS: We developed a list of data quality indicators of birth defects surveillance. These DQI address ascertainment, description, coding, and classification. RESULTS: We developed 40 DQI that can be used widely to assess the quality of data relative to birth defects of major clinical and public health impact. CONCLUSIONS: DQI have to be both comprehensive (e.g., assess all main surveillance processes) and practical (not require sophisticated or costly data elements), so that they can be used effectively in many different settings. We propose this list of DQI for use in surveillance program as a way to document the quality of the program; detect variations within and between programs, and support quality improvements.


Asunto(s)
Anomalías Congénitas/diagnóstico , Anomalías Congénitas/epidemiología , Exactitud de los Datos , Recolección de Datos/métodos , Recolección de Datos/normas , Indicadores de Calidad de la Atención de Salud/normas , Argentina/epidemiología , Humanos , Vigilancia de la Población
16.
Birth Defects Res ; 111(6): 333-340, 2019 04 01.
Artículo en Inglés | MEDLINE | ID: mdl-30756506

RESUMEN

BACKGROUND: In Argentina, birth defects are a leading cause of infant deaths. In 2009, the National Network for Congenital Anomalies of Argentina (RENAC) was established as a hospital-based surveillance system of major structural birth defects. To assess and enhance the system's data quality, we previously developed data quality indicators (DQI). Our aim was to evaluate quality indicators in RENAC. METHODS: We applied the DQI presented in a related publication to the 2016 RENAC data. RESULTS: Among the DQI of description, spina bifida coverage and talipes had the lowest results. Regarding prevalence of hypospadias, it was lower than the defined threshold. RENAC did not achieve the ascertainment threshold of a prevalence of 21.5 per 10,000 for critical congenital heart defects. There was a high ratio of spina bifida to anencephaly. CONCLUSIONS: DQI provide a focus for improving quality, making decisions, and advocating for interventions. Examples include advocating for newborn screening of critical congenital heart defects with pulse oximetry; developing training programs for clinicians to improve the detection of isolated hypospadias; and developing visual tools and checklists to improve the completeness and accuracy of case description for spina bifida, talipes, and other major malformations. After the interventions, it is important to track the impact by measuring again the DQI.


Asunto(s)
Anomalías Congénitas/diagnóstico , Anomalías Congénitas/epidemiología , Recolección de Datos/métodos , Recolección de Datos/normas , Indicadores de Calidad de la Atención de Salud/normas , Argentina/epidemiología , Humanos , Vigilancia de la Población
17.
J Community Genet ; 10(3): 385-393, 2019 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-30607893

RESUMEN

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.

18.
Eur J Med Genet ; 62(12): 103603, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-30572171

RESUMEN

Currently accepted birth prevalence for osteochondrodysplasias (OCDs) is about 2 per 10,000 births. Our main goal is to estimate the prevalence of OCDs in Argentina and compare it with other surveillance systems. We examined 1,663,610 births among 160 hospitals of RENAC (Red Nacional de Anomalías Congénitas - National Network of Congenital Anomalies) between November 2009 and December 2016. Cases were detected and registered according to a pre-established protocol, ranked in three diagnostic evidence levels according to available clinical documentation, and categorized according to the 9th edition of the nosology and classification of genetic skeletal disorders. Within our dataset, the most frequent groups were Group-1 (FGFR3, chondrodysplasia) and Group-25 (Osteogenesis Imperfecta and decreased bone density). Birth prevalence per 10,000 for the main OCD types, were: Achondroplasia 0.47 (95% CI: 0.38-0.59), Thanatophoric Dysplasia 0.37 (95% CI: 0.29-0.48), and the Osteogenesis Imperfecta group 0.34 (95% CI: 0.26-0.44). For total OCD, birth prevalence was 2.20 per 10.000 births (95% CI: 1.98-2.44). RENAC prevalence of total OCDs was found to be lower than that reported by the Latin-American Study of Congenital Malformations (ECLAMC) and Utah Birth Defect Network but higher than EUROCAT. Our investigation is the first study of OCD prevalence in Argentina using data from every jurisdiction of the country.


Asunto(s)
Acondroplasia/epidemiología , Osteogénesis Imperfecta/epidemiología , Displasia Tanatofórica/epidemiología , Argentina , Tasa de Natalidad
19.
Salud colect ; 15: 21-22, 2019. tab, graf
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1139489

RESUMEN

RESUMEN El objetivo de este trabajo fue describir la prevalencia al nacimiento del síndrome de Down en Argentina. Se calculó la prevalencia por jurisdicción y edad materna para el período 2009-2015 y se comparó la prevalencia y proporción del diagnóstico prenatal según subsector (público y privado) y nivel de complejidad de las maternidades. Se analizó la asociación con el peso y la edad gestacional al nacer. La fuente de datos fue la Red Nacional de Anomalías Congénitas (RENAC). La prevalencia fue de 17,26 por cada 10.000 nacimientos; por jurisdicciones varió entre 10,99 y 23,71, y por edad materna entre 10,32 en <20 años y 158,06 en ≥45 años. En hospitales del subsector privado hubo una mayor proporción de diagnóstico prenatal y una mayor prevalencia, esta última atribuible a diferencias en la estructura de edad materna. Se observó una correlación negativa entre el peso al nacer y este síndrome ( ß=-294,7; p<0,001). No se evidenció diferencia en la mediana de la edad gestacional al nacer entre recién nacidos con síndrome de Down y neonatos sin anomalías mayores, pero sí en la distribución de la edad gestacional. El conocimiento de ciertas características epidemiológicas podrá contribuir a la implementación de políticas de salud.


ABSTRACT The aim of this study was to describe the prevalence at birth of Down syndrome in Argentina. The prevalence by jurisdiction and maternal age was calculated for the 2009-2015 period and the prevalence and proportion of prenatal diagnosis was compared according to sub-sector (public and private) and complexity level of the maternity wards. The association of Down syndrome with birth weight and gestational age was analyzed. The data source was the National Network of Congenital Anomalies of Argentina [Red Nacional de Anomalías Congénitas] (RENAC). The prevalence was 17.26 per 10,000 births; by jurisdictions it varied between 10.99 and 23.71; and by maternal age, between 10.32 in women <20 years of age and 158.06 in those ≥45 years of age. In hospitals of the private subsector there was a higher prevalence, attributable to differences in the structure of maternal age, and a greater proportion of prenatal diagnosis. There was a negative correlation between birth weight and Down syndrome ( ß=-294.7; p<0.001). No difference in the median gestational age at birth between Down syndrome newborns and newborns without major anomalies was found, but the distribution of gestational age differed. Knowledge of certain epidemiological characteristics of this health issue could contribute to the implementation of health policies.

20.
Salud colect ; 15: e1863, 2019. tab, graf
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1014563

RESUMEN

RESUMEN El objetivo de este trabajo fue describir la prevalencia al nacimiento del síndrome de Down en Argentina. Se calculó la prevalencia por jurisdicción y edad materna para el período 2009-2015 y se comparó la prevalencia y proporción del diagnóstico prenatal según subsector (público y privado) y nivel de complejidad de las maternidades. Se analizó la asociación con el peso y la edad gestacional al nacer. La fuente de datos fue la Red Nacional de Anomalías Congénitas (RENAC). La prevalencia fue de 17,26 por cada 10.000 nacimientos; por jurisdicciones varió entre 10,99 y 23,71, y por edad materna entre 10,32 en <20 años y 158,06 en ≥45 años. En hospitales del subsector privado hubo una mayor proporción de diagnóstico prenatal y una mayor prevalencia, esta última atribuible a diferencias en la estructura de edad materna. Se observó una correlación negativa entre el peso al nacer y este síndrome ( ß=-294,7; p<0,001). No se evidenció diferencia en la mediana de la edad gestacional al nacer entre recién nacidos con síndrome de Down y neonatos sin anomalías mayores, pero sí en la distribución de la edad gestacional. El conocimiento de ciertas características epidemiológicas podrá contribuir a la implementación de políticas de salud.


ABSTRACT The aim of this study was to describe the prevalence at birth of Down syndrome in Argentina. The prevalence by jurisdiction and maternal age was calculated for the 2009-2015 period and the prevalence and proportion of prenatal diagnosis was compared according to sub-sector (public and private) and complexity level of the maternity wards. The association of Down syndrome with birth weight and gestational age was analyzed. The data source was the National Network of Congenital Anomalies of Argentina [Red Nacional de Anomalías Congénitas] (RENAC). The prevalence was 17.26 per 10,000 births; by jurisdictions it varied between 10.99 and 23.71; and by maternal age, between 10.32 in women <20 years of age and 158.06 in those ≥45 years of age. In hospitals of the private subsector there was a higher prevalence, attributable to differences in the structure of maternal age, and a greater proportion of prenatal diagnosis. There was a negative correlation between birth weight and Down syndrome ( ß=-294.7; p<0.001). No difference in the median gestational age at birth between Down syndrome newborns and newborns without major anomalies was found, but the distribution of gestational age differed. Knowledge of certain epidemiological characteristics of this health issue could contribute to the implementation of health policies.

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