Defectos congénitos: de la embriogénesis a la prevención

Los defectos congénitos constituyen causa de discapacidad física, psíquica y social, con un impacto en el incremento de los indicadores de morbilidad y mortalidad infantil. Pueden ser prevenibles en el nivel primario o preconcepcional. Con el objetivo de sistematizar los referentes teóricos relacionados con la embriogénesis de los defectos congénitos en función de su prevención, se realizó una búsqueda sobre el tema, consultándose 29 referencias bibliográficas. Se abordaron generalidades del desarrollo ontogénico, aspectos históricos de los defectos congénitos, su embriogénesis, etiología y definición. Asimismo, la prevención como estrategia de intervención en salud en diferentes niveles de actuación aplicados a los defectos congénitos. La etapa prenatal de la ontogenia -la más significativa- se divide a su vez en tres subetapas: la preembrionaria, la embrionaria y la fetal. La embrionaria, que transita entre la segunda y la octava semanas del desarrollo, es la más susceptible y vulnerable, y por tanto es el momento en el que, con mayor frecuencia, acontecen los errores en la embriogénesis, lo cual se traduce en el producto como un defecto congénito. La etiología de estos desórdenes de la ontogenia, obedece a factores genéticos, ambientales y multifactoriales. Existen tres niveles de prevención: preconcepcional, prenatal y posnatal; en el primero, se ponen en práctica diferentes acciones, y resulta vital la contribución de los médicos de la atención primaria de salud.

Birth defects cause physical, mental and social disabilities, with an impact on the increase of infantile morbidity and mortality indicators. They may be preventable at primary or preconception level. In order of systematize the theoretical references related to the embryogenesis of birth defects in function of their prevention, a search was carried out on the topic, consulting 29 bibliographic references. Generalities of ontogenic development, historical aspects of birth defects, their embryogenesis, etiology and definition are addressed. Also, prevention as strategy of health intervention at different levels of action applied to birth defects. The prenatal stage of ontogeny -the most significant one- is in turn divided into three sub-stages: pre-embryonic, embryonic, and fetal. The embryonic one, which passes between the second and eight weeks of development, is the most susceptible and vulnerable, and therefore it is the time when, most often, errors in embryogenesis occur, which translates into the product as a birth defect. The etiology of these ontogeny disorders is due to genetic, environmental and multifactorial factors. There are three prevention levels: pre-conceptional, pre-natal and post-natal; in the first, different actions are put into practice, and the contribution of the primary health care physicians is vital.

Congenital Heart Disease: Would It Be the Key Driver of Infant Survival During Amrit Kaal (2022-2047)?

Post-independence, we made significant strides in childhood survival. However, there is an abysmal improvement in survival due to birth defects. Globally, India contributes the largest proportion of under-5 deaths, overall as well as due to birth defects. Congenital heart disease (CHD) is the single most common cause of birth-defect related deaths, and is the 7th most common cause of infant deaths. Scarcity of pediatric cardiac care professionals and pediatric cardiac centers has led to a huge demand-supply gap. Understanding the burden of CHD and taking imperative steps at primary, secondary and tertiary levels are essential during Amrit Kaal (2022-2047). Coverage of management of CHD under Janani Shishu Suraksha Karyakram, Rashtriya Bal Suraksha Karyakram and Ayushman Bharat programs offers a huge promise, as shown by the experience from Hridayam program in Kerala.

Vigilancia epidemiológica de defectos congénitos en Granma

Introducción: el Registro Cubano De malformaciones Congénitas (RECUMAC), es un programa de atención y vigilancia clínico-epidemiológico de las anomalías congénitas, el cual fue implementado en nuestro país en el año 1985, tiene un diseño de tipo caso-control, de base hospitalaria y alcance nacional, recogiendo información sobre la madre y el recién nacido, los productos de las terminaciones voluntarias de embarazo (TVE), así como factores ambientales y genéticos de interés. Objetivo: determinar la prevalencia al nacer y la frecuencia ajustada de defectos congénitos mayores. Métodos: se realizó un estudio observacional, descriptivo y transversal, que implicó a los recién nacidos con defectos congénitos mayores de la provincia Granma en el período 2011-2018. Se calculó la prevalencia al nacer, la frecuencia ajustada y la tendencia de ambos, del total de los defectos estudiados para cada año, en cada municipio. Resultados: las frecuencias ajustadas de malformaciones congénitas se mantienen entre 14,4 y 15x1000 NV, excepto en los años 2012 y 2014 en que se elevó a 20 x1000 NV, los municipios Jiguaní, Yara, Bayamo, Cauto Cristo, Niquero y Buey Arriba fueron los de mayor frecuencia de anomalías congénitas, superando la media provincial, con frecuencias entre 16,13 y 23,2x1000 NV, el sistema de órganos con mayor FA de malformaciones congénitas fue el cardiovascular con 3,74x1000 NV, y según sistema de vigilancia internacional fue la hidrocefalia la malformación más frecuente con 0,92x1000 NV y 92% de TVE. Conclusiones: Las mayores tasas de malformaciones congénitas pertenecen en primer lugar al sistema cardiovascular seguidas del sistema genitourinario y el soma. El síndrome Down, la hidrocefalia, la Gastrosquisis, la Hipospadia y el labio leporino son las cinco malformaciones congénitas más frecuentes en nuestra provincia.

Introduction: the Cuban Registry of Congenital Malformations (RECUMAC), is a program of care and clinical-epidemiological surveillance of congenital anomalies, which was implemented in our country in 1985, has a case-control design, hospital-based and national scope, collecting information on the mother and newborn, the products of voluntary terminations of pregnancy (TVE), as well as environmental and genetic factors of interest. Objective: to determine the prevalence at birth and adjusted frequency of major birth defects. Methods: an observational, descriptive and cross-sectional study was conducted involving newborns with major congenital defects in Granma province in the period 2011-2018. The prevalence at birth, the adjusted frequency and the trend of both, of the total of the defects studied for each year, in each municipality were calculated. Results: the adjusted frequencies of congenital malformations remain between 14.4 and 15x1000 NV, except in the years 2012 and 2014 when it rose to 20 x1000 NV, the municipalities Jiguaní, Yara, Bayamo, Cauto Cristo, Niquero and Buey Arriba were the ones with the highest frequency of congenital anomalies, exceeding the provincial average, with frequencies between 16.13 and 23.2x1000 NV, the organ system with the highest AF of congenital malformations was the cardiovascular one with 3.74x1000 NV, and according to the international surveillance system, hydrocephalus was the most frequent malformation with 0.92x1000 NV and 92% of TVE. Conclusions: The highest rates of congenital malformations belong first to the cardiovascular system followed by the genitourinary system and the soma. Down syndrome, hydrocephalus, gastroschisis, hypospadia and cleft lip are the five most frequent congenital malformations in our province.

Introdução: o Registro Cubano de Malformações Congênitas (RECUMAC), é um programa de assistência e vigilância clínico-epidemiológica das anomalias congênitas, que foi implantado em nosso país em 1985, possui delineamento caso-controle, de âmbito hospitalar e nacional, coletando informações sobre a mãe e o recém-nascido, produtos de interrupções voluntárias da gravidez (TVE), bem como fatores ambientais e genéticos de interesse. Objetivo: determinar a prevalência ao nascer e a frequência ajustada dos principais defeitos congênitos. Métodos: foi realizado um estudo observacional, descritivo e transversal envolvendo recém-nascidos com defeitos congênitos maiores na província de Granma no período de 2011 a 2018. Foram calculadas a prevalência ao nascer, a frequência ajustada e a tendência de ambas, do total de defeitos estudados para cada ano, em cada município. Resultados: as frequências ajustadas de malformações congênitas permanecem entre 14,4 e 15x1000 NV, exceto nos anos de 2012 e 2014 quando subiu para 20 x1000 NV, os municípios de Jiguaní, Yara, Bayamo, Cauto Cristo, Niquero e Buey Arriba foram os que apresentaram maior frequência de anomalias congênitas, superando a média provincial, com frequências entre 16,13 e 23,2x1000 NV, o sistema orgânico com maior FA de malformações congênitas foi o cardiovascular com 3,74x1000 NV e, de acordo com o sistema de vigilância internacional, a hidrocefalia foi a malformação mais frequente com 0,92x1000 NV e 92% de TVE. Conclusões: As maior estaxas de malformações congênitas pertencem primeiro ao sistema cardiovascular, seguido pelo aparelho geniturinário e pelo soma. Síndrome de Down, hidrocefalia, gastrosquise, hipospádia e fenda labial são as cinco malformações congênitas mais frequentes em nossa província.

Analysis for trends in disease burden of congenital birth defects among children under 5 years old in China / 中南大学学报(医学版)

OBJECTIVES@#Congenital birth defects are the main source of disease burden among children under 5 years old in China. This study aims to compare the trends in disease burden of different congenital birth defects among Chinese children under 5 years old from 1990 to 2019, and to provide a scientific basis for strengthening the comprehensive prevention and control of birth defects.@*METHODS@#Based on data from the Global Burden Disease (GBD) in 2019, the incidence mortality rate, and disability-adjusted life years (DALYs) rate of congenital birth defects among Chinese children under 5 years old from 1990 to 2019 were selected as evaluation indicators. The Joinpoint regression model was used to analyze the trends in disease burden of different types with congenital birth defects over three decades. The study also compared the differences in disease burden of congenital birth defects among children under 5 years old by gender.@*RESULTS@#Compared to 1990, the DALYs rates of congenital heart anomalies (1 931.91/100 000), digestive congenital anomalies (364.63/100 000), neural tube defects (277.20/100 000), congenital musculoskeletal and limb anomalies (133.33/100 000), and Down syndrome (128.22/100 000) in children under 5 years old in China in 2019 were decreased 70.78%, 71.61%, 86.21%, 36.84% and 73.65%, respectively. From 1990 to 2019, the mortality rates and DALYs rates of different congenital birth defects showed an overall downward trend, but the incidence of digestive congenital anomalies and Down syndrome showed an upward trend after 2005 and 2001, respectively. Except for congenital musculoskeletal and limb anomalies, incidence of the remaining categories of birth defects were higher in boys than that in girls.@*CONCLUSIONS@#The disease burden of congenital birth defects in children under 5 years old in China is decreased substantially from 1990 to 2019, but the burden of congenital heart anomalies is still serious and the incidence of some birth defect diseases is on the rise, and it is still crucial to strengthen the prevention and treatment for birth defects in children and propose targeted measures according to their gender characteristics.

Trends in Selected Birth Defects Among Parents from Below Poverty Line Population in Karnataka During 2010–2020

The aim of the study is to reveal the common birth defects among parents of newborns belonging to the below poverty line (BPL) category in Karnataka state (South India) by analyzing Suvarna Arogya Suraksha Trust data. In the last 10 years, 3672 kids in BPL families have been born with various birth abnormalities. It is found that 50.3% of newborns have anorectal malformations, 33.1% have hypospadias, 6.0% have diaphragmatic hernia, 5.1% have esophageal atresia, and 2.8% have intestinal atresia and obstruct. As a parent’s age rises, the likelihood of having a child with birth abnormalities raise as well, particularly anorectal malformations than diaphragmatic hernia. Male newborns have a higher risk of birth defects. We hypothesized that poverty, material deprivation, and low socioeconomic profile throughout the life course among the BPL community could be some of the key reasons for poor maternal health care and related neonatal outcomes.

Association of Congenital Anomalies in Newborns with Maternal and Fetal Factors in North Gujarat Region, India: A Cross-Sectional Analytical Study

Background: Approximately 8 to 15% of perinatal deaths and 13 to 16% of neonatal deaths in India are a result of congenital anomalies. The objective of the research was to studyincidence of clinically detect-able congenital malformations in newborns delivered at secondary and tertiary hospitals and their asso-ciation with maternal and fetal factors. Material and methods: This study include all new-borns delivered at secondary and tertiary care hospi-tals in the Mehsana districts of Gujarat, India from January 1st, 2021 to December 31st, 2021. A total of 6900 consecutive births were examined for visible structural anomalies to determine the overall inci-dence and distribution of congenital malformations and their association with feto-maternal factors. Results: Total numbers of malformed babies were 90 with incidence of 1.30%. Incidence of malformed babies was 1.54% among mother in the age group of 21-35 years, 3.57% among mother with consan-guineous marriage, and 6.67.% among mothers with severe anemia. The incidence was 0.97% in babies <1500 birth weight, 0.97% among live births and 12.5% among preterm babies. Conclusion: Congenital anomalies in newborns are significantly associated with maternal factors like maternal age, consanguinity, previous child with malformation, history of previous abortion and severe anemia and fetal factors such as stillbirth, premature babies, and low birth weight.

Clinical patterns of congenital ocular anomalies in the pediatric age group (0 to 5 years) and its association with various demographic parameters

Purpose: Congenital ocular anomalies are rare but important cause of childhood blindness. This study aimed to observe the clinical patterns of congenital ocular anomalies in the pediatric age group (0 to 5 years) and its association with various demographic parameters. Methods: Hospital?based cross?sectional study done on all pediatric patients in the 0?to?5?year age group presenting with congenital ocular anomalies to the Ophthalmology department of a tertiary care hospital in Eastern India between October 2018 and October 2020. Thorough clinical history was obtained, and comprehensive ocular examination was done in each case. Results: A total of 5686 patients in the 0 to 5 years age group attended the eye OPD during the study period. Congenital ocular anomalies were seen in 140 patients. The prevalence of ocular anomalies was 2.46%. Average age of patients was 3.32 ± 1.42 years. There were 74 (52.9%) males and 66 (47.1%) females. Unilateral and bilateral involvement was seen in 100 (71.45%) and 40 (28.6%) cases, respectively. Antenatal period was uneventful in 92.14% cases. Decreased vision was the most common presentation (40%). Congenital nasolacrimal duct obstruction was the most common anomaly seen in 29 (20.71%) cases followed by congenital cataract in 21 (15%) cases. Conclusion: Few of the congenital ocular anomalies can be prevented by increasing community awareness. Findings of the study can act as a reference guide for clinicians and health professionals for counseling and health planning.

Construction and application of the Yueyang comprehensive birth defects prevention and control information platform / 公共卫生与预防医学

Objective To construct and apply a comprehensive information platform for the prevention and control of birth defects based on three-level prevention and control in the birth-age population of Yueyang City, aiming to improve the effectiveness of intervention and reduce the impact of birth defects on the fetus. Methods A retrospective analysis was used to study the married population of childbearing age in Yueyang from January 2017 to December 2019, all of whom were included in the comprehensive information platform for the prevention and control of birth defects based on the three-tier prevention and control. Observed indicators include birth defects I, II and III prevention and control and intervention effectiveness. Results (1) Effectiveness of prevention and control at the first level in each year: After continuous intervention, the education rate, marriage test rate and folic acid distribution in Yueyang city increased year by year, while the incidence of birth defects decreased year by year (P<0.05). (2) Effect of secondary prevention and control in each year: After continuous intervention, the serum screening rate, ultrasound diagnosis rate and amniotic fluid culture rate in Yueyang city increased year by year, while the birth defect rate decreased year by year (P<0.05). (3) Effectiveness of three levels of prevention and control in each year: After continuous intervention, the screening rate of newborns in Yueyang city increased year by year (P<0.05); and the disability rate of CH and PKU was 0% in three years. Conclusions The adoption of a three-level comprehensive prevention and control information platform in the prevention and control of birth defects has the advantages of safe, efficient and stable application, which is conducive to promoting the active conduct of prenatal examinations by pregnant women, enhancing the effectiveness of health education and improving the quality of health care during pregnancy, thereby effectively reducing the incidence, birth and disability rates of children with birth defects and achieving satisfactory graded application results. Accordingly, it is recommended that priority be given to the selection of a three-tier integrated information platform for prevention and control, depending on the actual situation.

Impact of communication on the awareness of birth defects among adult women in Nigeria

Objectives: Birth defects are universal problems associated with poor management outcomes in children,especially in developing countries where its burden is enormous. Media advocacy is believed to help in reducing these poor outcomes. This study assessed the level of awareness of birth defects in women and the impact of the media in Nigeria. Material and Methods: This was a descriptive cross-sectional study of 778 women, conducted in the outpatient clinics of two major referral hospitals in Ibadan, Nigeria, from March to October 2019.Results: Of the 778 women, 768 were administered a structured questionnaire and 10 women whose children have been managed for a congenital anomaly before were interviewed using an in-depth interview guide. Of the 768 respondents, 600 (78.1%) were in the third and fourth decades of life and 577 (75.1%) women have heard about birth defects before. A total of 348 (60.3%) and 134 (23.2%) women heard about it from the hospital and mass media, respectively, with 65.0% of them believing that the media were helping in educating people about birth defects. There was a statistically significant relationship between the awareness levels and the respondents' occupation (χ2 = 28.914, P < 0.001), educational status (χ2 =43.325, P < 0.001), religion (χ2 = 10.376, P = 0.016), antenatal clinic attendance (χ2 = 5.035, P = 0.025), and history of previous mid-trimester abortion (χ2 = 7.689,P = 0.006).Conclusion: The level of awareness about birth defects is good but not enough; there is a need for greater media involvement in disseminating information on the occurrence of birth defects.

Descriptive epidemiology of external structural birth defects in Enugu State, Nigeria

Objectives: To determine the birth prevalence, trend, and characteristics of external structural birth defects occurrence in Enugu Metropolis, Nigeria. Design: Cross-sectional study involving review of delivery records. Setting: The study was conducted at three tertiary hospitals, one public and two missionary, in Enugu Metropolis. Participants: Mothers and their babies delivered between 1 January 2009 and 31 December 2016 in the study facilities. Main outcome measures: Birth prevalence of defects presented as frequency/10,000 births. Other descriptive variables are presented as frequencies and percentages. Results: There were 21530 births with 133 birth defects (birth prevalence: 61.8/10,000 births) and 1176 stillbirths (stillbirth rate: 54.6/1000 births). The frequencies and birth prevalence (/10,000 births) of recorded defects were: Limb deformities 60(27.9), Neural tube defects (NTDs): 36(16.7), Urogenital system defects: 12(5.6), Gastrointestinal system defects 10(4.6) and Orofacial clefts 4(1.9). Birth defects occurrence showed a rising trend from 2009 to 2016. The mean (SD) age of mothers whose babies had Birth defects was 29.1(4.7) years. Only 62(46.6%) of 133 antenatal clinic folders of these women were traceable for further review. Eighteen (29.0%) had febrile illness in early pregnancy, 9(14.5%) had Malaria, 17(27.4%) had <4 antenatal clinic attendance, 7(11.3%) did not take folic acid and 6(9.7%) took herbal medications during pregnancy. Conclusions: Birth defects occurrence showed a rising trend with limb deformities and NTDs having the highest prevalence. Record keeping was poor at the facilities. Birth defects preventive interventions like folic acid supplementation for women-of-childbearing age should be promoted in Enugu Metropolis.

Influence of birthplace on gastroschisis outcomes in a state in the southeastern region of Brazil

Abstract Objective: To characterize the influence of birthplace on outcomes of patients with gastroschisis admitted to three hospitals in a state in Brazil's southeastern region, according to condition inborn (born in a reference center) or outborn (born outside the reference center). Methods: Retrospective multicenter cohort study of patients with gastroschisis. The sample size utilized was of patients admitted in three hospitals with a diagnosis of gastroschisis ICD 10 Q79.3 between January 2000 to December 2018. Patients were divided into two groups, inborn and outborn. Characteristics of prenatal, perinatal and postoperative were compared using statistical tests. The level of significance adopted was P-value < 0.05. Results: In total, 144 cases of gastroschisis were investigated. The outborn patients group had higher rates of absence of antenatal diagnosis (p = 0.001), vaginal delivery (p = 0.001), longer time between birth and abdominal wall closure surgery (p = 0.001), to silo removal (p = 0.001), to first enteral feeding (p = 0.008), for weaning from mechanical ventilation (p = 0.034), used less peripherally inserted central catheter (PICC) and required more venous dissections (p = 0.001), and lower mean of serum sodium (p = 0.015). There were no differences in mortality rates and length of hospital stay between the inborn and outborn groups. Conclusion: Although outborn patients with gastroschisis were less likely to have an antenatal diagnosis and were more prone to a longer time to undergo surgical and feeding procedures, and to spend more time in mechanical ventilation, these disadvantages seemed not to reflect on the death rate and the length of hospital stay of patients from this group.

Mortalidad infantil por defectos congénitos en Costa Rica: actualización 2010-2018 / Infant mortality from birth defects in Costa Rica: update 2010-2018

Resumen Objetivo. El objetivo de este estudio fue identificar la tendencia de los diferentes tipos de defectos congénitos en la tasa de mortalidad infantil y neonatal en Costa Rica durante el período 2010-2018 con respecto al primer período 2000-2009. Métodos. Se realizó un análisis de estadísticas vitales. La fuente de información fue el Instituto Nacional de Estadísticas y Censos de Costa Rica, mediante su sistema de acceso público y consulta en línea, se consultó la base de defunciones por causa y la base de nacimientos para el período 2000-2018. Las causas de defunción por defectos congénitos se agruparon por sistemas, además se seleccionaron los defectos de mayor mortalidad en el periodo de estudio para su análisis específico. Para describir el comportamiento de la mortalidad infantil por defectos congénitos de 2010-2018 con respecto al decenio anterior, se calcularon tasas de mortalidad infantil y neonatal para los períodos 2000- 2009 y 2010-2018 con su respectivo intervalo de confianza (IC95%). Se construyó un modelo de regresión Poisson Log lineal para cada grupo de defectos congénitos y para los defectos específicos seleccionados, tomando como factor de ajuste los subperíodos comparados. Se estimaron razones de prevalencias y se compararon mediante chi cuadrado de Wald usando como base el período 2000-2009. Resultados. En las últimas dos décadas, los defectos congénitos causaron 29% a 38% de la mortalidad infantil general. La tasa de mortalidad infantil por defectos congénitos durante 2000-2009 fue 3,19 (IC95%: 3,1-3,3) y descendió significativamente a 2,97 (IC95%: 2,8-3,1) en el período 2010-2018. Esta disminución se dio a expensas de la afectación de los sistemas circulatorio y digestivo.Al analizar la mortalidad infantil por defectos congénitos específicos, se demostró una disminución significativa únicamente en espina bífida y algunos defectos cardiacos: transposición de grandes arterias, defecto septal ventricular, coartación aorta y otras anomalías cardiacas no especificadas. La tasa de mortalidad neonatal por defectos congénitos no varió significativamente entre los períodos comparados, en 2000-2009 fue 2,13 (IC95%: 2,0-2,2) y 2,17 (IC95%: 2,1-2,3) en 2010-2018. El único grupo de defectos congénitos que presentó una disminución significativa en la tasa de mortalidad neonatal en la última década fue el sistema circulatorio. Conclusiones. En la última década se presentó una disminución significativa de la tasa de mortalidad infantil por defectos congénitos. Este descenso obedeció principalmente a una disminución significativa en las tasas de mortalidad infantil y neonatal por defectos cardiacos.

Abstract Objective. This study aims to identify the trend of the different types of congenital defects in the infant and neonatal mortality rate in Costa Rica during the period 2010- 2018, and to compare it with the period 2000-2009. Methods. A vital statistics analysis was performed. The source of information was the Costa Rican National Institute of Statistics and Censuses, through its public domain system and online consultation, the base of deaths by cause and the base of births for the period 2000-2018 were consulted. The causes of death due to congenital defects were grouped by system, in addition, the defects with the highest mortality in the study period were selected for their specific analysis. To describe the behavior of infant mortality due to congenital defects in 2010-2018 with respect to the previous decade, infant and neonatal mortality rates were calculated for the periods 2000-2009 and 2010- 2018 with their respective confidence interval (95% CI). A linear Poisson Log regression model was constructed for each group of congenital defects and for the specific defects selected, taking the sub periods compared as an adjustment factor. Prevalence ratios were estimated and compared using Wald's chi square based on the period 2000-2009. Results. In the last two decades, birth defects caused 29% to 38% of overall infant mortality. The infant mortality rate due to congenital defects during 2000-2009 was 3.19 (95% CI: 3.06-3.32) and presented a significant decrease to 2.97 (95% CI: 2.84-3.11) in the 2010-2018 period. This decrease occurred at the expense of the affection of circulatory and digestive systems. When analyzing infant mortality due to specific congenital defects, a significant decrease was shown only in spina bifida and some cardiac defects: transposition of the great arteries, ventricular septal defect, aortic coarctation and other unspecified cardiac anomalies. The neonatal mortality rate due to congenital defects did not vary significantly between the periods compared, in 2000-2009 it was 2.13 (95% CI: 2.03-2.24) and 2.17 (95% CI: 2.06-2, 29) in 2010-2018. The only group of congenital defects that presented a significant decrease in the neonatal mortality rate in the last decade was the circulatory system. Conclusions. In the last decade there was a significant decrease in the infant mortality rate due to congenital defects. This decrease was mainly due to a significant decrease in infant and neonatal mortality rates from heart defects.

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

Resumen Objetivo: Describir la prevalencia de las cardiopatías congénitas en dos hospitales de Cali entre 2011-2017. Método: Se realizó un estudio retrospectivo de una cohorte de 54.193 nacimientos en dos hospitales de Cali, que incluyó recién nacidos desde el 1.º de enero 2011 hasta el 31 de diciembre de 2017 captados en el programa de vigilancia y seguimiento de defectos congénitos. Inicialmente se hizo un análisis descriptivo de los pacientes con cardiopatías y luego se analizó la relación de algunas variables con un chi-cuadrado (C2) con una significancia de p-valor < 0,05. Resultados: La prevalencia en esta cohorte fue de 2,42 por 1.000 nacimientos. De los 131 pacientes con cardiopatías congénitas, 73 (55,73%) eran de sexo masculino; 91 (69,47%) nacieron con peso adecuado para la edad gestacional y 31 (23,66%) fueron pretérmino. De las madres, 30,53% se encontraban entre 25 y 29 años y 42% eran primigrávidas. Respecto a las cardiopatías congénitas, la más frecuente fue la comunicación interventricular con 52 (32,30%) casos; 105 (80,15%) tenían una sola cardiopatía congénita y 62 (47,33%) tenían cardiopatías aisladas. Las variables de peso para edad gestacional, edad materna y edad gestacional mostraron una relación estadísticamente significativa. Conclusiones: Las cardiopatías congénitas son de gran interés en salud pública dada su morbi-mortalidad y por ser causa de muerte en menores de un año en Colombia. Por lo tanto, se debe continuar trabajando en estrategias que mejoren su vigilancia, así como el diagnóstico prenatal, el tratamiento y el nivel de complejidad adecuado para cada paciente.

Abstract Objective: To describe the prevalence of congenital heart disease in two hospitals of Cali in between 2011 and 2017. Method: A retrospective study of a cohort of 54,193 births was carried out in two hospitals of Cali, which included newborns from January 1, 2011 to December 31, 2017, captured through the surveillance program and monitoring of birth defects. Initially, a descriptive analysis of patients with congenital heart disease was performed, and the association of some variables with a chi-square (C2) with a p-value significance <0.05. Results: The prevalence in this cohort was 2.42 x 1,000 births. Of the 131 patients with congenital heart disease, 73 (55.73%) were male; 91 (69.47%) were born with adequate weight for gestational age and 31 (23.66%) were preterm. Of the mothers, 30.53% were between 25 and 29 years old and 42% were primigravid. Regarding CC, the most frequent was interventricular communication with 52 (32.30%) cases; 105 (80.15%) had only one congenital heart disease and 62 (47.33%) had isolated heart disease. The variables of weight for gestational age, maternal age and gestational age, showed a statistically significant association. Conclusions: Congenital cardiopathy is of great interest in public health, given their morbi-mortality and as a cause of death in children under 1 year old in Colombia. Therefore, we must continue to work on strategies that improve surveillance, as well as prenatal diagnosis, treatment and the level of complexity appropriate to each patient.

Analysis of public demand for information related to congenital birth defects in “Baidu know” based on word frequency of internet retrieval / 中华健康管理学杂志

Objective:To analyze the public demands for information about congenital birth defects in “Baidu zhidao” based on word frequency retrieval.Methods:Based on discussion between obstetrics and gynecology experts and epidemiological experts, the key words related to congenital birth defects were determined and the search strategy was formulated. Python 2.7 was used for web crawler search. Questions related to congenital birth defects were obtained on the “Baidu zhidao” platform, and then the R 4.0.2 software was used to process the data, complete the semantic analysis of keywords and statistical analysis of word frequency, and draw word cloud graph and polar chart to describe the key results.Results:A total of 16668 non-repetitive questions were retrieved from “Baidu zhidao” platform, and the frequency of semantic words was 15 371. Among them, 35.02% were the names and symptoms of congenital birth defects. In addition, the frequency of congenital heart disease was the highest (26.09%). The results of subject analysis of key words of birth defects showed that the average word frequency of diagnosis and treatment semantic words (49.55) was significantly higher than that of etiology and prevention semantic words (12.47). In addition, the key words of examination, cause, treatment, development and heredity were more frequently used in the semantic words related to the seven types of systemic malformations.Conclusion:The public in China has a high demand for information on congenital birth defect related diseases, and their causes, prevention and treatment, especially congenital heart disease.

Impact of communication on the awareness of birth defects among adult women in Nigeria

OBJECTIVES: Birth defects are universal problems associated with poor management outcomes in children, especially in developing countries where its burden is enormous. Media advocacy is believed to help in reducing these poor outcomes. This study assessed the level of awareness of birth defects in women and the impact of the media in Nigeria. MATERIAL AND METHODS: This was a descriptive cross-sectional study of 778 women, conducted in the outpatient clinics of two major referral hospitals in Ibadan, Nigeria, from March to October 2019. RESULTS: Of the 778 women, 768 were administered a structured questionnaire and 10 women whose children have been managed for a congenital anomaly before were interviewed using an in-depth interview guide. Of the 768 respondents, 600 (78.1%) were in the third and fourth decades of life and 577 (75.1%) women have heard about birth defects before. A total of 348 (60.3%) and 134 (23.2%) women heard about it from the hospital and mass media, respectively, with 65.0% of them believing that the media were helping in educating people about birth defects. There was a statistically significant relationship between the awareness levels and the respondents' occupation (χ2 = 28.914, P < 0.001), educational status (χ2=43.325, P < 0.001), religion (χ2 = 10.376, P = 0.016), antenatal clinic attendance (χ2 = 5.035, P = 0.025), and history of previous mid-trimester abortion (χ2 = 7.689, P = 0.006). CONCLUSION: The level of awareness about birth defects is good but not enough; there is a need for greater media involvement in disseminating information on the occurrence of birth defects.

Escuta clínica em um ambulatório de genética: uma experiência extensiva / The clinical listening in a genetic ambulatory: an extension experience / Escucha clínica em amlabolatoria de genética: uma experiencia de extensión

O trabalho busca relatar uma prática extensionista em um Hospital Universitário que teve como objetivo ampliar as ações no cuidado a pessoas com defeitos congênitos (DC) no SUS. Para tanto, apresenta-se a experiência de estudantes de psicologia em ambulatório de genética, ao associar à prática médica ambulatorial a escuta clínica. Discute-se neste artigo a importância da prática extensiva na atenção a pacientes com DC e seus familiares, decorrente da necessidade da interlocução entre medicina e psicologia na clínica contemporânea. Os resultados delimitaram os desafios enfrentados pelas estudantes e os efeitos da prática extensionista em serviço de genética clínica: estabelecimento de um espaço de fala e escuta; complexidade das condições genéticas; problemática do acompanhamento psicológico em serviço ambulatorial; e implicações na formação em Psicologia. Ressalta-se, por fim, a pertinência das reflexões teórico-clínicas acerca de uma primeira experiência de escuta clínica em sua dupla vertente: como dispositivo tanto terapêutico quanto formativo (AU).

This work seeks to report an extension practice in a University Hospital that had the objective to expand the care actions concerning people with birth defects in the Brazil's Unified Health System (SUS). Therefore, it presents the psychology student's experience in a genetic ambulatory, associating the clinical listening to the medical practice. This article also discusses the importance of the extension practice in attention to people with birth defects, through the emerging dialogue between medical practice and the clinical listening. The results set out the challenges faced by the students and the extension practice effects in a genetic service: an effective speaking and listening space; the genetical conditions complexity; the continuity of psychological support issue; and the implications in Psychology formation. Is stands out, lastly, the relevance of theoretical-clinical reflections concerning a first clinical listening experience double-sided: such as a therapeutic disposal and as a formative one (AU).

El trabajo busca reportar una práctica de extensión en un Hospital Universitario que tuvo como objetivo ampliar las acciones de atención a personas con defectos de nacimiento (EC) en el SUS. Para ello, presenta la experiencia en una consulta externa de genética, asociando la escucha clínica a la práctica médica ambulatoria. Este artículo discute la importancia de una práctica extensa en el cuidado de pacientes con EC y sus familias, debido a la necesidad de diálogo entre la medicina y la psicología en la clínica contemporánea. Los resultados delimitaron los desafíos enfrentados por los estudiantes y los efectos de la práctica de extensión en un servicio de genética clínica: establecimiento de un espacio para el habla y la escucha; complejidad de las condiciones genéticas; problemática del seguimiento psicológico en un servicio ambulatorio; e implicaciones para la formación en psicología. Finalmente, se destaca la relevancia de las reflexiones teórico-clínicas acerca de una primera experiencia de escucha clínica en su doble vertiente: como dispositivo terapéutico y formativo (AU).

Twin pregnancy a complicating journey for both mothers and babies: elaborate review

Pregnancy, also known as gestation, is the time during which one or more offspring develops inside a woman. A multiple pregnancy involves more than one offspring, such as with twins. Pregnancy can occur by sexual intercourse or assisted reproductive technology. A pregnancy may end in a live birth, abortion, or miscarriage, though access to safe abortion care varies globally. Research shows that 10 percent to 15 percent of all singleton births may have started off as twins; often one is lost early in pregnancy in a phenomenon known as "vanishing twin syndrome." Multiple pregnancy occurs when two or more ova are fertilized to form dizygotic (non-identical) twins or a single fertilised egg divides to form monozygotic (identical) twins. In the U.S, about three in every 100 pregnant women give birth to twins or triplets, according to the Mayo Clinic in Rochester, Minn. And by many accounts, twin pregnancies are on the rise. This review provides a blessful information to understand what happening when expecting twins and also help to cope with pregnancy related complications and give twins the best start in life.

Morbidity profile of children from birth to 18 years of age referred for intervention to the district early intervention centre in a District Hospital, Andhra Pradesh

Background: The 揅hild Health Screening and Early Intervention Services� program aims at early detection and management of the four dimensions prevalent in children-defects at birth, diseases in children, deficiency conditions, and developmental delays, including disabilities. Objective: The objective of the study was to assess the morbidity profile of children from birth to 18 years of age screened in the district early intervention center (DEIC). Methods: A record-based descriptive study was done in the DEIC in Chittoor, Andhra Pradesh. The data were retrieved for 1-year from April 2017 to March 2018 into the excel sheet, and the combined master sheet was prepared for analysis. The analysis was done with SPSS 21.0 Version. Results: A total of 10571 children were screened and referred to the DEIC during the period. Out of them, 5679 (53.7%) were male and 4892 (46.3%) were female. Among all the four types of morbidities screened, majority 4847 (45.9%) were having the childhood diseases, 4177 (39.5%) had developmental delays including disabilities, 1067 (10.1%) had different deficiencies, and 361 (3.4%) had birth defects. Among the adolescent health issues, 119 (1.1%) were screened and sent for the early intervention to the district hospital. Conclusions: A huge number of children were screened and referred to the DEIC every year for intervention. The health sector has to focus more on the resources like workforce, training of peripheral health workers at regular intervals about the different morbidities screened, that would help in identifying the morbidities at the earliest possible time and receive the intervention at the best center.

Congenital Heart Disease in the Pediatric Population in Eastern India: A Descriptive Study

This cross-sectional study assessed distribution and pattern ofechocardiography confirmed congenital heart disease, among593 pediatric patients in outpatient departments of a tertiary carehospital in eastern India. Commonest defects were ventricularseptal defect (43, 40.7%), atrial septal defect (241, 31.7%), andtetralogy of Fallot (125, 21%).