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1.
Birth Defects Res ; 2021 Mar 18.
Artículo en Inglés | MEDLINE | ID: mdl-33734618

RESUMEN

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.

2.
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.

3.
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
4.
Am J Med Genet C Semin Med Genet ; 184(4): 1078-1091, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-33319501

RESUMEN

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.

5.
Ann Epidemiol ; 2020 Nov 27.
Artículo en Inglés | MEDLINE | ID: mdl-33253899

RESUMEN

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

6.
Birth Defects Res ; 112(20): 1787-1801, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33067932

RESUMEN

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

7.
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
8.
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.

9.
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.

10.
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.

11.
Am J Med Genet A ; 179(12): 2382-2392, 2019 12.
Artículo en Inglés | MEDLINE | ID: mdl-31566869

RESUMEN

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.


Asunto(s)
Síndrome de la Trisomía 13/epidemiología , Síndrome de la Trisomía 18/epidemiología , Femenino , Humanos , Nacimiento Vivo , Mortalidad , Vigilancia de la Población , Embarazo , Resultado del Embarazo , Diagnóstico Prenatal , Prevalencia , Sistema de Registros , Síndrome de la Trisomía 13/genética , Síndrome de la Trisomía 13/mortalidad , Síndrome de la Trisomía 18/genética , Síndrome de la Trisomía 18/mortalidad
12.
Paediatr Perinat Epidemiol ; 33(6): 436-448, 2019 11.
Artículo en Inglés | MEDLINE | ID: mdl-31637749

RESUMEN

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.


Asunto(s)
Mortalidad del Niño , Mortalidad Infantil , Nacimiento Vivo/epidemiología , Disrafia Espinal/mortalidad , Mortinato/epidemiología , Asia/epidemiología , Niño , Preescolar , Europa (Continente)/epidemiología , Femenino , Humanos , Lactante , Recién Nacido , Masculino , América del Norte/epidemiología , Prevalencia , Sistema de Registros , América del Sur/epidemiología , Disrafia Espinal/epidemiología
15.
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
16.
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
17.
Eur Urol ; 76(4): 482-490, 2019 10.
Artículo en Inglés | MEDLINE | ID: mdl-31300237

RESUMEN

BACKGROUND: Hypospadias is a common male birth defect that has shown widespread variation in reported prevalence estimates. Many countries have reported increasing trends over recent decades. OBJECTIVE: To analyze the prevalence and trends of hypospadias for 27 international programs over a 31-yr period. DESIGN, SETTING, AND PARTICIPANTS: The study population included live births, stillbirths, and elective terminations of pregnancy diagnosed with hypospadias during 1980-2010 from 27 surveillance programs around the world. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: We used joinpoint regression to analyze changes over time in international total prevalence of hypospadias across programs, prevalence for each specific program, and prevalence across different degrees of severity of hypospadias. RESULTS AND LIMITATIONS: The international total prevalence of hypospadias for all years was 20.9 (95% confidence interval: 19.2-22.6) per 10000 births. The prevalence for each program ranged from 2.1 to 39.1 per 10000 births. The international total prevalence increased 1.6 times during the study period, by 0.25 cases per 10000 births per year (p<0.05). When analyzed separately, there were increasing trends for first-, second-, and third-degree hypospadias during the early 1990s to mid-2000s. The majority of programs (61.9%) had a significantly increasing trend during many of the years evaluated. Limitations include known differences in data collection methods across programs. CONCLUSIONS: Although there have been changes in clinical practice and registry ascertainment over time in some countries, the consistency in the observed increasing trends across many programs and by degrees of severity suggests that the total prevalence of hypospadias may be increasing in many countries. This observation is contrary to some previous reports that suggested that the total prevalence of hypospadias was no longer increasing in recent decades. PATIENT SUMMARY: We report on the prevalence and trends of hypospadias among 27 birth defect surveillance systems, which indicate that the prevalence of hypospadias continues to increase internationally.

18.
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
19.
BMJ Open ; 9(7): e028139, 2019 07 02.
Artículo en Inglés | MEDLINE | ID: mdl-31270117

RESUMEN

OBJECTIVES: To assess international trends and patterns of prenatal diagnosis of critical congenital heart defects (CCHDs) and their relation to total and live birth CCHD prevalence and mortality. SETTING: Fifteen birth defect surveillance programmes that participate in the International Clearinghouse for Birth Defects Surveillance and Research from 12 countries in Europe, North and South America and Asia. PARTICIPANTS: Live births, stillbirths and elective terminations of pregnancy for fetal anomaly diagnosed with 1 of 12 selected CCHD, ascertained by the 15 programmes for delivery years 2000 to 2014. RESULTS: 18 243 CCHD cases were reported among 8 847 081 births. The median total prevalence was 19.1 per 10 000 births but varied threefold between programmes from 10.1 to 31.0 per 10 000. CCHD were prenatally detected for at least 50% of the cases in one-third of the programmes. However, prenatal detection varied from 13% in Slovak Republic to 87% in some areas in France. Prenatal detection was consistently high for hypoplastic left heart syndrome (64% overall) and was lowest for total anomalous pulmonary venous return (28% overall). Surveillance programmes in countries that do not legally permit terminations of pregnancy tended to have higher live birth prevalence of CCHD. Most programmes showed an increasing trend in prenatally diagnosed CCHD cases. DISCUSSION AND CONCLUSIONS: Prenatal detection already accounts for 50% or more of CCHD detected in many programmes and is increasing. Local policies and access likely account for the wide variability of reported occurrence and prenatal diagnosis. Detection rates are high especially for CCHD that are more easily diagnosed on a standard obstetric four-chamber ultrasound or for fetuses that have extracardiac anomalies. These ongoing trends in prenatal diagnosis, potentially in combination with newborn pulse oximetry, are likely to modify the epidemiology and clinical outcomes of CCHD in the near future.


Asunto(s)
Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/epidemiología , Diagnóstico Prenatal , Asia/epidemiología , Europa (Continente)/epidemiología , Femenino , Cardiopatías Congénitas/mortalidad , Humanos , Recién Nacido , Masculino , América del Norte/epidemiología , Embarazo , Diagnóstico Prenatal/estadística & datos numéricos , Diagnóstico Prenatal/tendencias , Prevalencia , Estudios Retrospectivos , América del Sur/epidemiología
20.
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
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