Anomalías congénitas frecuentes en Uruguay entre 2011 y 2014: importancia de un registro para la evaluación de las necesidades de salud / Frequent congenital anomalies in Uruguay in 2011-2014; importance of a medical record for health assessment / Anomalias congênitas frequentes no Uruguai entre 2011-2014, importância de um registro para avaliação das necessidades de saúde

Introducción: las anomalías congénitas (AC) son un problema de salud pública con impacto en la infancia, la mortalidad infantil (MI) y la discapacidad. En Uruguay, así como en otros países desarrollados, las AC y la prematuridad son las principales causas de MI. Objetivos: el objetivo de este trabajo fue analizar las anomalías más frecuentes en el país entre 2011 y 2014, y evaluar los factores de riesgo. Material y método: los datos se obtuvieron del Registro Nacional de Defectos Congénitos y Enfermedades Raras y Estadísticas Vitales del Ministerio de Salud Pública. Resultados: se determinó que prácticamente la mitad de los casos fueron: cardiopatías congénitas, síndrome de Down y defectos del tubo neural (anencefalia, encefalocele y mielomeningocele), representando 0,42% (812/191.820) y 2,85% (38/1334) de los nacidos vivos (NV) y de los óbitos fetales respectivamente. Las prevalencias por 10.000 NV y OF fueron: 38,52 y 149,93 para cardiopatías congénitas; 3,6 y 7,5 para síndrome de Down; 2,1 y 127,4 para defectos del tubo neural. La edad materna avanzada fue el principal factor de riesgo de síndrome de Down. Los factores de riesgo observados en las tres anomalías seleccionadas fueron: prematurez, depresión neonatal y bajo peso al nacer. Conclusiones: las anomalías congénitas en general y las seleccionadas en este trabajo en particular, constituyen una causa relevante de morbimortalidad en el período neonatal e infantil, plausibles de prevención. El diagnóstico temprano es fundamental para planificar servicios de salud especializados. Los resultados aquí presentados se pueden utilizar como línea de base para medir el impacto de las acciones de salud a nivel nacional.

Introduction: congenital anomalies (CA) are a public health problem with an impact on childhood, infant mortality (IM) and disability. In Uruguay, as well as in other developed countries, CA and prematurity are the main causes of IM. Objectives: analyze the most frequent anomalies in the country in 2011-2014 and evaluate risk factors. Material and methods: the data were obtained from the National Record of Congenital Defects and Rare Diseases and health statistics from the Ministry of Public Health. Results: it was determined that practically half of the cases were: congenital heart disease, Down syndrome and Neural Tube Defects (anencephaly, encephalocele and myelomeningocele), accounting for 0.42% (812/191,820) and 2.85% (38/1334) of live births and stillbirths respectively. The prevalence per 10,000 NV and stillbirths were: 38.52 and 149.93 for Congenital Heart Disease; 3.6 and 7.5 for Down Syndrome; 2.1 and 127.4 for neural tube defects. Advanced maternal age was the main risk factor for Down syndrome. The risk factors observed in the three selected anomalies were: prematurity, neonatal depression and low birth weight. Conclusions: congenital anomalies in general, and those selected in this study in particular, are a relevant cause of morbidity and mortality in newborns and infants, likely to be prevented. Early diagnosis is essential for planning specialized health services. The results presented in the present paper can be used as a baseline to measure the impact of health actions at national level.

Introdução: as anomalias congênitas (AC) são um problema de saúde pública com impacto na infância, na mortalidade infantil (MI) e na deficiência. No Uruguai, assim como em outros países desenvolvidos as AC e prematuridade são as principais causas de MI. Objetivos: analisar as anomalias mais frequentes no país, entre 2011-2014 e avaliar os fatores de risco. Material e métodos: os dados foram obtidos do Registro Nacional de Defeitos Congênitos e Doenças Raras e estatísticas vitais do Ministério da Saúde Pública. Resultados: determinou-se que praticamente a metade dos casos eram: cardiopatias congênitas, Síndrome de Down e Defeitos do tubo neural (anencefalia, encefalocele e mielomeningocele), representando 0,42% (812/191.820) e 2,85% (38/1334) de nascidos vivos-NV e natimortos, respectivamente. As prevalências por 10.000 NV e natimortos foram: 38,52 e 149,93 para Cardiopatia Congênita; 3,6 e 7,5 para Síndrome de Down; 2,1 e 127,4 para defeitos do tubo neural. A idade materna avançada foi o principal fator de risco para a síndrome de Down. Os fatores de risco observados nas três anomalias selecionadas foram: prematuridade, depressão neonatal e baixo peso ao nascer. Conclusões: as anomalias congênitas em geral e as selecionadas neste estudo em particular, constituem causa relevante de morbimortalidade no período neonatal e infantil, possível de ser prevenida. O diagnóstico precoce é fundamental para o planejamento de serviços de saúde especializados. Os resultados aqui apresentados podem ser usados como base para medir o impacto das ações de saúde realizadas a nível nacional.

Prevalencia de defectos del tubo neural y estimación de casos evitados posfortificación en Argentina / Prevalence of neural tube defects and estimation of cases averted in the post-fortification period in Argentina

La ingesta periconcepcional de ácido fólico ha demostrado ser efectiva en la reducción de la frecuencia de defectos del tubo neural, y la fortificación de los alimentos ha sido una estrategia para incrementarla. Se presenta una actualización de la reducción de las prevalencias de defectos del tubo neural posfortificación en Argentina y la estimación de los casos evitados en el período 2005-2013 como consecuencia de esta intervención. Al comparar la prevalencia observada en el período posfortificación con la reportada en el período de prefortificación, se observa un descenso significativo de 66% para anencefalia y encefalocele, y de 47% para espina bífida. El número de casos evitados estimados fue mayor para anencefalia, seguido por espina bífida; encefalocele presentó el menor número de casos evitados, dado que la prevalencia de este defecto fue menor. El descenso de la prevalencia observado apoya los resultados de estudios previos sobre el efecto de la fortificación.

Periconceptional intake of folic acid has demonstrated to be effective to reduce the frequency of neural tube defects, and food fortification has been one of the strategies implemented to increase it. An update is herein presented on the reduced prevalence of neural tube defect cases in the post-fortification period in Argentina and an estimation of cases averted in the 2005-2013 period as a result of this intervention. When comparing the prevalence observed in the post-fortification period to that reported in the pre-fortification period, anencephaly and encephalocele decreased by 66%, and spina bifida, by 47%, which were significant reductions. The estimated number of cases averted was higher for anencephaly, followed by spina bifida; encephalocele showed the lowest number of cases averted given that the prevalence of this defect was smaller. The decrease observed in the prevalence supports findings from previous studies on the impact of fortification.

Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil / Características de fetos avaliados por suspeita de anencefalia: um estudo de coorte de base populacional do Sul do Brasil

CONTEXT AND OBJECTIVE: Anencephaly is considered to be the most common type of neural tube defect. Our aim was to assess the clinical and gestational features of a cohort of fetuses with suspected anencephaly. DESIGN AND SETTING: Population-based retrospective cohort study in a referral hospital in southern Brazil. METHODS: The sample consisted of fetuses referred due to suspected anencephaly, to the Fetal Medicine Service of Hospital Materno Infantil Presidente Vargas, between January 2005 and September 2013. Clinical, radiological, pathological and survival data were gathered. RESULTS: Our sample was composed of 29 fetuses. The diagnosis of suspected anencephaly was made on average at 21.3 weeks of gestation. Seven fetuses had malformations that affected other organs, and these included oral clefts (n = 4) and congenital heart defects (n = 2). In 16 cases, there was termination of pregnancy (n = 12) or intrauterine death (n = 4). Regarding those who were born alive (n = 13), all of them died in the first week of life. After postnatal evaluation, the diagnosis of anencephaly was confirmed in 22 cases (75.9%). Other conditions included amniotic band disruption complex (6.9%), microhydranencephaly (6.9%), merocrania (3.4%) and holoprosencephaly (3.4%). CONCLUSIONS: Different conditions involving the cranial vault may be confused with anencephaly, as seen in our sample. However, these conditions also seem to have a poor prognosis. It seems that folic acid supplementation is not being properly performed. .

CONTEXTO E OBJETIVO: A anencefalia é considerada o tipo mais comum de defeito de fechamento do tubo neural. Nosso objetivo foi avaliar as características clínicas e gestacionais de uma coorte de fetos com suspeita de anencefalia. TIPO DE ESTUDO E LOCAL: Estudo de coorte retrospectivo de base populacional em um hospital de referência no sul do Brasil. MÉTODOS: A amostra foi composta por fetos encaminhados por suspeita de anencefalia ao Serviço de Medicina Fetal do Hospital Materno Infantil Presidente Vargas, no período de janeiro de 2005 a setembro de 2013. Foi realizada coleta de dados clínicos, radiológicos, patológicos e de sobrevida. RESULTADOS: Nossa amostra foi composta por 29 fetos. A suspeita do diagnóstico de anencefalia foi realizada em média com 21,3 semanas de gestação. Sete fetos apresentavam malformações que afetavam outros órgãos, e incluíram fendas orais (n = 4) e defeitos cardíacos congênitos (n = 2). Em 16 casos houve interrupção da gravidez (n = 12) ou morte intrauterina (n = 4). Daqueles que nasceram vivos (n = 13), todos morreram na primeira semana de vida. Após a avaliação pós-natal, o diagnóstico de anencefalia foi confirmado em 22 casos (75,9%). Outras condições incluíram o complexo disruptivo de banda amniótica (6,9%), microhidranencefalia (6,9%), merocrania (3,4%) e holoprosencefalia (3,4%). CONCLUSÕES: Diferentes condições que envolvem a calota craniana podem ser confundidas com a anencefalia, como verificado em nossa amostra. No entanto, estas também parecem ter um prognóstico pobre. A suplementação com ácido fólico parece não estar sendo realizada de forma adequada. .

Resultados del Programa de Prevención de Defectos de Tubo Neural en Chile mediante la fortificación de la harina con ácido fólico: Período 2001-2010 / Effects of wheat flour fortification with folic acid on the prevalence of neural tube defects in Chile

Background: Congenital malformations (CMF) have an important role in infant mortality. Neural tube defects (NTD) have great relevance from both social and public health points of view. The ECLAMC (Collaborative Latin American Study of Congenital Malformations) maintains in Chile an epidemiological surveillance of CMF prevalence rate at birth since 1969. Aim: To assess the effect of wheat flour folic acid fortification on the prevalence of NTD. Patients and Methods: Only An encephaly, Spina bifida and Cephalocele were considered as NTD. All children born in the maternities incorporated to ECLAMC between 1969 and 1999 were considered as belonging to the pre folic acid fortification period and those who were born from 2001 to 2010 were considered as belonging to the post fortification period. Results: The NTD prevalence rate at birth in the pre fortification period was 17.03/10,000. In the second period, there were 291,996 births and among them, 280 newborns were affected by a form of NTD (9.59 in 10,000 births). This represents a 44% decrease (p < 0.01). Anencephaly rate fell from 7.16/10,000 to 3.67/10,000, representing a 49% lower rate (p < 0.01). Spina bifida rate decreased from 8.61/10,000 to 4.49/10,000, representing a 48% lower rate (p < 0.01). Cephalocele had a 20% non-significant reduction. Conclusions: Wheat flour fortification with folic acid reduced by 44% the prevalence rate of NTD at birth. This means that NTDs were prevented in 185 Chilean newborns each year.

Prevalência e distribuição espacial de defeitos do tubo neural no Estado de São Paulo, Brasil, antes e após a fortificação de farinhas com ácido fólico / Prevalence and spatial distribution of neural tube defects in São Paulo State, Brazil, before and after folic acid flour fortification / Prevalencia y distribución espacial de defectos del tubo neural en el Estado de São Paulo, Brasil, antes y después del enriquecimiento de harinas con ácido fólico

Estudo transversal que analisou prevalência e distribuição espacial de defeitos do tubo neural, antes e após a fortificação das farinhas de trigo e milho com ácido fólico no Estado de São Paulo, Brasil, com uso do Sistema de Informações sobre Nascidos Vivos (SINASC). São apresentadas prevalências segundo características maternas por meio de odds ratio (OR) e intervalos de 95% de confiança (IC95%). Para análise temporal e espacial, foram utilizados, respectivamente, regressão polinomial e mapas com suavização bayesiana empírica. A prevalência diminuiu 35%, de 0,57 para 0,37 por mil nascidos vivos após a fortificação (OR = 0,65; IC95%: 0,59-0,72). Verificou-se redução para mulheres de todas as idades (exceto < 15 anos), com mais de três anos de estudo e sete consultas ou mais de pré-natal. Confirmou-se redução temporal na maior parte do estado, exceto alguns municípios do oeste. Outros aspectos podem ter contribuído para o declínio observado, porém os resultados reiteram a fortificação de farinhas como medida importante para prevenção de defeitos do tubo neural. Outras análises devem ser realizadas para justificar resultado inverso no oeste paulista.

This cross-sectional study analyzed the prevalence and spatial distribution of neural tube defects before and after folic acid flour fortification. The study used the Information System on Live Births (SINASC) and presented prevalence rates according to maternal characteristics with odds ratios (OR) and 95% confidence intervals (95%CI). Polynomial regression was used in time trend analysis and empirical Bayesian smoothed maps for spatial analysis. Total prevalence of neural tube defects decreased by 35%, from 0.57/1,000 to 0.37/1,000 live births after fortification (OR = 0.65; 95%CI: 0.59-0.72). There was a reduction among newborns of mothers with the following characteristics: all age groups (except < 15 years), more than three years of schooling, and seven or more prenatal visits. There was a reduction over time and in most of São Paulo State, except in a few municipalities (counties) located in the western region of the State. Other factors may have contributed to the observed decline, but the results corroborate flour fortification as an important measure to prevent neural tube defects. Further research is needed to elucidate the lack of a decline in neural tube defects in the western part of São Paulo State.

Estudio transversal que analizó la prevalencia y distribución espacial de defectos del tubo neural, antes y después del enriquecimiento de las harinas de trigo y maíz con ácido fólico en el Estado de Sao Paulo, Brasil, con el uso del Sistema de Información sobre Nacidos Vivos (SINASC). Se presentaron prevalencias, según características maternas, mediante odds ratio (OR) e intervalos de un 95% de confianza (IC95%). Para un análisis temporal y espacial, fueron utilizados, respectivamente, regresión polinomial y mapas con suavizamiento bayesiano empírico. La prevalencia disminuyó un 35%, de 0,57 a 0,37 por mil nacidos vivos tras el enriquecimiento (OR = 0,65; IC95%: 0,59-0,72). Se verificó la reducción en mujeres de todas las edades (excepto < 15 años), con más de tres años de estudio y siete consultas o más de carácter prenatal. Se confirmó la reducción temporal en la mayor parte del estado, excepto algunos municipios del oeste. Otros aspectos pueden haber contribuido al declive observado, no obstante, los resultados reiteran el enriquecimiento de harinas como una medida importante para la prevención de defectos en el tubo neural. Otros análisis deben ser realizados para justificar el resultado inverso en el oeste paulista.

Asociación inversa entre asma y defectos del tubo neural: estudio ecológico binacional / Inverse association between asthma and neural tube defects: a binational ecological study

OBJETIVO: Los donadores de metilo como el ácido fólico previenen defectos del tubo neural (DTN), pero estudios recientes sugieren que también favorecen el desarrollo de asma. En este trabajo exploramos una posible asociación ecológica entre DTN y asma. MATERIAL Y MÉTODOS: Se consultaron bases de datos de México y EUA para obtener información sobre distribución geográfica (por estado) y tendencia temporal (por año) de DTN y asma. RESULTADOS: Los estados con menor frecuencia de DTN tuvieron mayor frecuencia de asma, tanto en México (rS=-0.48, p=0.005) como en EUA (rS=-0.39, p=0.005). Las tendencias temporales también mostraron correlación inversa en México (1997-2007, rS=-0.73, p=0.01) y EUA (1979-1998, rS=-0.91, p<0.001). CONCLUSIONES: En ambos países la frecuencia de asma correlacionó de forma inversa con la frecuencia de DTN, tanto en distribución geográfica como en tendencias anuales, apoyando la posibilidad de que la ingestión de donadores de metilo en la dieta o como suplementos esté influyendo sobre la frecuencia de asma.

OBJECTIVE: Dietary intake of methyl donors such as folic acid prevents neural tube defects (NTD), but recent studies showed that it might also favor the development of asthma. In this work a possible ecological association between NTD and asthma was explored. MATERIAL AND METHODS: Data bases from Mexico and the United States (US) were reviewed to obtain information about geographical distribution (by state) and temporal trends (by year) of NTD and asthma. RESULTS: Those states with the lowest frequency of NTD had the highest frequency of asthma, both in Mexico (rS=-0.48, p=0.005) and US (rS=-0.39, p=0.005). Temporal trends also showed an inverse correlation in Mexico (1997-2007, rS=-0.73, p=0.01) and US (1979-1998, rS=-0.91, p<0.001). CONCLUSIONS: In both countries the frequency of asthma inversely correlated with the frequency of NTD, both in geographical distribution and annual trends, giving support to the possibility that methyl donors intake in diet or supplements is influencing the asthma frequency.

Impacto de la fortificación de alimentos con ácido fólico en los defectos del tubo neural en Costa Rica / Impact of the fortification of food with folic acid on neural tube defects in Costa Rica

OBJETIVO: Evaluar el impacto de la fortificación de alimentos con ácido fólico en las tendencias de las prevalencias de los defectos del tubo neural (DTN) y la tasa de mortalidad infantil (TMI) por este trastorno en Costa Rica. MÉTODOS: Se analizaron los datos de vigilancia del Centro de Registro de Enfermedades Congénitas y el Centro Centroamericano de Población. Se consideraron defectos del tubo neural la anencefalia, la espina bífida y el encefalocele. Se examinaron las tendencias durante 1987-2009, así como las diferencias de tasas (intervalo de confianza [IC] 95 por ciento) de prevalencia y mortalidad antes de la fortificación de alimentos con ácido fólico y hasta 12 años después de su implementación. Se determinó el aporte de la fortificación al descenso en la TMI general. RESULTADOS: En 1987-1997, previo al período de fortificación de alimentos con ácido fólico, la prevalencia de DTN fue de 12/10 000 nacidos (IC95 por ciento: 11,1-12,8), mientras que en 2009 fue de 5,1/10 000 nacidos (3,3-6,5). La TMI por DTN en 1997 fue de 0,64/1 000 nacimientos (46-0,82) y en 2009 de 0,19/1 000 (0,09-0,3). La TMI por DTN y su prevalencia disminuyeron en forma significativa, 71 por ciento y 58 por ciento respectivamente (P < 0,05). La TMI general disminuyó de 14,2/1 000 nacidos en 1997 a 8,84/1 000 en 2009 (P < 0,05). El descenso en la TMI por DTN contribuyó a una caída de 8,8 por ciento en la TMI general entre 1997 y 2009. CONCLUSIONES: La fortificación de alimentos con ácido fólico provocó una reducción de DTN al nacimiento y de la TMI por esta malformación durante el período 1997-2009, así como también el descenso de la TMI general. Existe relación de temporalidad entre el inicio de las políticas de fortificación y el descenso de la prevalencia y mortalidad por DTN. Se debe pro-mover esta intervención en los países de América Latina y el Caribe donde todavía no ha sido implementada.

OBJECTIVE: Evaluate the impact of the fortification of food with folic acid on prevalence trends for neural tube defects (NTD) and the infant mortality rate (IMR) associated with this disorder in Costa Rica. METHODS: The surveillance data from the Congenital Disease Registry Center and the Central American Population Center were analyzed. The neural tube defects considered were anencephaly, spina bifida, and encephalocele. The trends from 1987-2009, as well as the differences in prevalence and mortality rates prior to and up to 12 years after food fortification with folic acid, were examined (95 percent confidence interval [CI]). The contribution of fortification to the decrease in the overall IMR was determined. RESULTS: During 1987-1997, prior to the period of food fortification with folic acid, NTD prevalence was 12/10 000 births (95 percent CI: 11.1-12.8), whereas in 2009 prevalence was 5.1/10 000 births (3.3-6.5). The IMR associated with NTD was 0.64/1 000 births (46-0.82) in 1997 and 0.19/1 000 births (0.09-9.3) in 2009. There were significant decreases in the IMR associated with NTD and the prevalence of NTD: 71 percent, and 58 percent, respectively (P < 0.05). The overall IMR decreased from 14.2/1 000 births in 1997 to 8.84/1 000 births in 2009 (P < 0.05). The decrease in the IMR associated with NTD contributed to an 8.8 percent decrease in the overall IMR from 1997 to 2009. CONCLUSIONS: Food fortification with folic acid caused a decrease in NTD at birth and the IMR associated with this malformation during the 1997-2009 period. It also led to a decrease in the overall IMR. There is a temporal relationship between the introduction of fortification policies and the decrease in prevalence and mortality associated with NTD. This intervention should be promoted in Latin American and Caribbean countries where it has not yet been implemented.

Efecto de la fortificación de la harina con ácido fólico sobre la evolución de las tasas de prevalencia al nacimiento de malformaciones congénitas en los hospitales chilenos del ECLAMC / Effects of folic acid fortification in the rates of malformations at birth in Chile

Background: The effects of folic acid fortification on neural tube defects is well known. Other reports show a beneficial effect of the fortification on orofacial clefts, urinary malformations and defects caused by limb reduction. Aim: To determine the changes in prevalence of congenital malformations after the start of flour folic acid fortification in Chile. Material and methods: The rates of 22 malformations occurring in the maternity of the University of Chile Clinical Hospital and other Chilean hospitals participating in the Latin American Collaborative Study of Congenital Malformations (ECLAMC) were compared before and after the start of flour folic acid fortification. Results: After the start of folic acid fortification a significant reduction in the rates of anencephalia, spina bifida and diaphragmatic hernia, was observed. The rates of all other malformations remained stable or increased. The rates of all malformations at the University of Chile Clinical Hospital had a steady increase until 2005 and were significantly higher than in the rest of hospitals participating in ECLAMC. Conclusions: Folic acid fortification was associated with an expected reduction in rates of spina bifida and anencephalia and an unexpected reduction in the rates of diaphragmatic hernia.

Neural tube defects among infants delivered of mothers with tobacco smoke exposure

To verify the occurrence of congenital neural tube anomalies among the newborns of pregnant women who had experienced exposure to tobacco smoke. A cross sectional study of pregnant women at delivery considering their newborns as a gestational cohort. A systematic random sample of 2300 pregnant women who attended for labour at Maternity and Children hospital in Najaf city were interviewed for history of tobacco smoke exposure during the period 2002-2004. The sample was subdivided into exposed and unexposed women to tobacco smoke. The newborns were clinically examined by a pediatrician for presence of any congenital anomalies especially neural tube defects. The over all newly delivered newborns with congenital anomalies were 3.4% among smoker mothers, and 1.9% among nonsmokers [including small defects]. The most frequent neural tube defects among smoker mothers were anencephaly [1.8%] and spina bifid a [1.2%], versus 0.7% and 0.6% respectively among non smokers or unexposed women [P<0.05]. There was some increase in the risk of such defects among exposed women to tobacco smoke who did not take folic acid in relation to unexposed in spite of no statistically significant difference. Also there was no significant difference in the distribution of neural tube defects between those women who live in urban or rural areas or between different age groups. Smoking is a risk factor for neural tube defects

Defectos congénitos cráneo-encefálicos: variedades y respuesta a la fortificación de la harina con ácido fólico / Effect of flour folic acid fortification on the incidence of cranio encephalic congenital defects

Background: In Chile, flour is fortified with folic acid since 2000, and the incidence of neural tube defects has decreased. Cranio-encephalic congenital defects (CECD) have a wider clinical scope, includind classical neural tube defects (NTD) such as anencephalia and acrania, but also incorporating other defects. Therefore, the effects of folic acid fortification on the incidence of CECD could be different. Aim: To study the effect of folic acid fortification on the incidence of CECD. Material and methods: All prenatal diagnoses of CECD and cases registered locally in the Latin American Collaborative Study of Congenital Malformations (ECLAMC) were reviewed. The obtained data were crossed with all death certificates of newborns or stillborns of more than 500 g in the Sixth Region, in Central Chile. All cases were classified again in four subtypes, according to their phenotype. The incidences of all subtypes prior (1996-2000) and after folic acid supplementation (2001-2004), were compared. Results: Between 1996 and 2004, there were 64 cases of CEDC among 109,176 infants born alive. The global rate was 8.86 per 10,000 born alive in the period prior to fortification and 3.03 per 10,000 born alive after fortification. Comparing both periods, there was a 66 percent reduction in all CECD and a 77 and 100 percent reduction in subtypes A and B of CECD, respectively (p <0.05). No significant reductions in type C and D CECD, were observed. Conclusions: After the start of flour folic acid fortification, there was a global reduction in the incidence of CECD. However, only types A and B CECD, supposedly more responsive to folic acid, were reduced.

Anencefalia: presentación de un caso clínico / Anencephaly: a clinical case

La anencefalia es una malformación del sistema nervioso, causado por la falla del cierre del neuroporo anterior durante la embriogénesis. Su incidencia es de 1 en 1.000 embarazos en Estados Unidos. Los recién nacidos con anencefalia generalmente sobreviven sólo pocas horas o días, y excepcionalmente se han descrito casos de sobrevida de algunas semanas. Existen numeroso estudios que sugieren la existencia de factores genéticos y ambientales en la génesis de este trastorno, por ejemplo, mutaciones en el gen que codifica la enzima metilentetrahidrofolato reductasa, elevados niveles plasmáticos de homocisteína y bajos de folato en madres de niños con defectos del tubo neural y factores ambientales diversos. La mayoria de los casos son diagnosticados mediante ultrasonografía precozmente durante el embarazo (antes de las 20 semanas). Se presenta un caso clínico de recién nacido con anencefalia, en el Hospital de Salamanca, que tuvo una sobrevida excepcionalmente prolongada y se revisa el tema

Malformaciones congénitas y exposición a pesticidas / Congenital malformations and pesticide exposure

Background: Chronic pesticide exposure is a recognized risk for human health. The frequency of congenital malformations in exposed people, can be used for epidemiological studies assessing reproductive risk secondary to toxic exposure. Aim: To study the association between the incidence of congenital malformations and parent's exposure to pesticides. Material and methods: A prospective study of cases and controls. The exposure could be caused by occupational activities or residence around fumigated crops. The records of cases and controls from the surveillance carried out in the Hospital Regional de Rancagua were analyzed. This hospital is active member of a collaborative study of congenital malformations in Latin America. Results: In two years there was a total of 453 newborns (18 stillborn) with congenital malformations, with an incidence of 41.24 ä. Considering only children born alive, the paired analysis of cases and controls showed an association of congenital malformations with a history of maternal exposure, with an attributable fraction of 54.4 percent. Conclusions: These results, showing an association between pesticide exposure and congenital malformations, should be analyzed in the future by a logistic regression test

Defectos del cierre del tubo neural y retardo en el crecimiento intrauterino, búsqueda de asociación con el tipo anatómico y con la exposición a gripe y medicamentos / Risk factors associated to neural tube defects and intrauterine growth retardation

Introducción. Objetivo: determinar si la presencia de retardo en el crecimiento intrauterino (RCIU) en un grupo general de defectos del cierre del tubo neural (DTN, se asocia con la categoría particular de DTN y con la exposición a enfermedades, medicamentos y algunas variables sociodemográficas. Material y métodos. Se realizó un estudio transversal analítico en todos los neonatos con DTN, existentes en la base de datos que sobre malformaciones congénitas realiza la Universidad de Guadalajara. Se midió la asociación entre todas las categorías anatómicas de DTN con RCIU y defecto anatómico particular, edad de la madre, escolaridad, ocupación y exposición durante el primer trimestre del embarazo a enfermedades medicamentos. Resultados. De 272 sujetos con DTN, tuvieron información suficiente 223 registros (82 por ciento), 57 con DTN y RCIU y 166 con DTN sin RCIU. De las categorías anatómicas de DTN, la anencefalia se asoció fuertemente con RCIU (razón de momios = 7.8; intervalo de confianza a 95 por ciento = 3.8-16.3). El promedio de la edad de las madres de los neonatos con DTN y RCIU comparado con los RN con DTN sin RCIU fue diferente; y el riesgo de RCIU fue mayor del doble cuando las madres de los neonatos estudiados tuvieron una edad menor de 20 años. No se encontró asociación entre DTN y RCIU con la exposición durante el primer trimestre del embarazo a enfermedades y a medicamentos. Conclusiones. En este estudio se demostró la asociación de RCIU en neonatos con DTN en general con edad materna menor de 20 años y con enencefalia

Defectos del cierre del tubo neural: prevalencia y búsqueda de asociación con algunos factores de riesgo durante el primer trimestre del embarazo / neural tube defects: Prevalence, and associated risk factors in the first three months of pregnancy

Objetivo. Determinar la prevalencia de defectos del cierre del tubo neural (DCTN) y su asociación con el antecedente de exposición durante el primer trimestre del embarazo a enfermedades, algunos agentes físicos y sustancias químicas. Material y métodos. Se realizó un estudio de casos y controles en 43,095 nacimientos consecutivos con más de 20 semanas de gestación y más de 500 g de peso, en el Hospital de Gineco-Obstetricia (HGO) del Centro Médico Nacional de Occidente del Instituto Mexicano del Seguro Social y el Nuevo Hospital Civil (NHC) de Guadalajara, de septiembre de 1993 a enero de 1995. Se estimó el tamaño de la muestra en 63 casos y 126 controles. La información fue recabada en forma prospectiva en base a un formulario especialmente diseñado. Se calculó la prevalencia de DCTN y se comparó la información de factores de riesgo de casos y controles. Las variables continuas se compararon por la prueba t de Student, y las discretas por la chi cuadrada y prueba exacta de Fisher, calculándose la razón de momios(RM). Resultados. Los casos fueron 71 recién nacidos (RN) con DCTN, con 142 RN controles. En el NHC la prevalencia de DCTN fue de 2.7 x 1,000 RN; en los RN muertos (RNM) la prevalencia fue de 96.3 x 1,000. en el HGO la prevalencia fue de 1.2 x 1,000; en los RNM de 42.7 x 1,000. La anencefalia tuvo una relación masculino/femenino de 3.7 en el NHC y de 0.55 en el HGO. La exposición durante el primer trimestre del embarazo a enfermedades crónicas y con antecedente de toma de medicamento (acetaminofén) fue más frecuente en el grupo de casos. Conclusiones. La prevalencia encontrada de DCTN muestra poca diferencia con la reportada en hospirales que atienden poblaciones similares. La exposición a enfermedades crónicas y a acetaminofén se asoció con mayor frecuencia a DCTN

High incidence of anencephaly and legal rights

This work reports a high incidence of anencephaly in a small Brazilian town (Santos Dumont, MG), analyzes its impact on the local population, and studies the legal rights of this population to protect itself from the financial burden and human suffering that this "epidemic" of anencephaly has caused. From 1983 through 1992, 49 per cent more anencephalic infants were delivered in Santos Dumont than would be expected from the incidence of 1:1,000 births for the general population. There were 10,712 births from 1983 to 1992 in a single maternity hospital, and 16 of these births were anencephalic infants, representing 1.49:1,000. The occurrence of anencephaly varied with mother's agem and an incidence of 1.9 in 1,000 infants was found for women ranging in age from 20 to 29 years. In addition, 4 of 5 anencephalic infants were females, and 2 of 3 anencephalic infants were stillborn. No genetic or environmental factors were identified to account for this extremely high incidence of anencephaly in this population of about 50,000.

El registro de malformaciones congenitas monitorea la eficacia del diagnostico prenatal / Congenital malformations register monitoring prenatal diagnostic efficiency

Se analizo la eficacia de los programas de Genetica para la prevencion d defectos al nacimiento entre 1988 y 1993, en los que la provincia Villa Clara participo en el Registro Cubano de malformaciones Congenitas (RECUMAC), lo que ha permitido monitorear al nacimiento la prevalencia de defectos del tubo neural y de anomalias cromosomicas, para las cuales se llevaron a cabo en la provincia programas de diagnostico prenatal. La eficacia en la prevencion de defectos del tubo neural fue del 93 porciento, la prevencion del sindrome de Down en mujeres de mas de 35 anos fue de 29 porciento y de 25 porciento en gestantes de mas de 38 anos

Perinatal factors associated with neural tube defects (anencephaly [correction of anancephaly], spina bifida and encephalocele)

The objective of the present study was to determine the presence of risk factors for the occurrence of neural tube defects. Data for 33,535 births which occurred at Hospital do Servidor Público Estadual de Säo Paulo from July 1973 to December 1986 were collected in a prospective manner as recommended by Estudo Colaborativo Latino-Americano de Malformaçöes Congênitas (ECLAMC, Collaborative Latin American Study on Congenital Malformations). Twenty-six cases of neural tube defects were detected (0.77/1000 births). Of these, 11 were cases of spina bifida (0.39/1000 births), 9 of anencephaly (0.27/1000 births) and 6 of encephalocele (0.18/1000 births). We observed a higher frequency of polyhydramnios, premature labor, Apgar scores of less than 7 at the first and fifth minutes, low birth weight and intrauterine growth retardation

Incidence of anencephaly in Jamaica

Information was collected on 2,197 stillbirths and neonatal deaths on the island of Jamaica during a 12 month period September 1986 to August 1987 as part of the population based nationwide Jamaican Perinatal Morbidity and Mortality Survey. There were 14 cases of anencephalus giving an incidence of 0.26 per 1000 total births. There was no detectable association with social class, maternal age or parity. The rate in Jamaica is considerably lower than found in any other population study.