Alfredo Aguila R

Effects of folic acid fortification in the rates of malformations at birth in Chile

After the start of folic acidfortification a significant reduction in the rates of anencephalia, spina bifida anddiaphragmatic hernia, was observed. The rates of all other malformations remained stable orincreased. The rates of all malformations at the University of Chile Clinical Hospital had asteady increase until 2005 and were significantly higher than in the rest of hospitalsparticipating in ECLAMC.

The association between maternal age and congenital malformations

An overallprevalence of malformations of 8,4% was detected at the hospital. There is a significantly lowerfrequency of mothers aged less than 20 years than in the rest of Chile. Mothers aged between 20and 29 years have the lower frequency of malformed children. Women aged less than 20 yearsand over 39 years of age, account for 56% of malformed children. Maternal ages and the ratesof malformations, increased in a parallel fashion at a rate of 0.2 years and 2.2 malformedchildren per 1,000 born alive, per calendar year, respectively.

Vigilancia epidemiológica del síndrome de Down en Chile, 1972 a 2005

To verify whether the frequencyof Down syndrome is increasing in the maternity of the University of Chile Clinical Hospital, orin other Chilean hospitals participating in the Latin American Collaborative Study of CongenitalMalformations (ECLAMC) and compare the rates with other world registries of congenitalmalformations.

La frecuencia de nacimientos de gemelos aumentó en un hospital chileno coincidiendo con el consumo periconcepcional de harina fortificada con ácido fólico

Background: A significant increase in the frequency of twins has been described in the literature as a secondary effect of perinatal supplementation with folic acid. Aim: To verify if the frequency of twins increased in a Chilean hospital, after the start of flour folic acid supplementation. Material and methods: The frequency of twins was compared in the University of Chile Clinical Hospital, before and after the start of flour fortification with folic acid. Results: There was a 34% increase in the frequency of twins during the post fortification period (2001-2004) as compared with the previous period (1998-2000). A decrease in the frequency of male twins, when compared with single newborns, was also observed in the post fortification period. There was a higher frequency of stillborns among twins, when compared with single newborns. Conclusions: The frequency of twin pregnancies increased after flour folic acid supplementation in sample of Chilean population (Rev Med Chile 2006; 134: 48-52). (Key words: Dietary supplements; Flour; Folic acid; Pregnancy, multiple; Twins)

Malformaciones congénitas y patología crónica de la madre.: Estudio ECLAMC 1971-1999

Background: Several maternal diseases, such as diabetes mellitus or high blood pressure, are associated with a higher risk for fetal or neonatal problems. Aim: To study the association between chronic diseases of the mother and congenital malformations. Material and methods: Review of the records of the Latin American Collaborative Study of Congenital Malformations (ECLAMC) at the University of Chile Clinical Hospital. A sample of 383 mothers with a chronic disease was compared with 297 healthy mothers. The presence of congenital malformations in the newborns was studied. The odds ratio (OR) of a mother to have a child with a congenital malformation was calculated. Results: Mothers with bronchial asthma, diabetes mellitus, hypertension and hypothyroidism had an OR over 1 of having a child with a congenital malformation. No association between maternal obesity and offspring malformations was observed. Offspring of diabetic mothers had 8.95 times more probabilities of having a major malformation and 4.95 times more probabilities of having a minor defect. Conclusions: Offspring of mothers with diabetes mellitus, bronchial asthma, hypertension or hypothyroidism have a higher risk of presenting a congenital malformation, when compared with offspring of healthy mothers (Rev Med Chile 2003; 131: 404-11).

La edad paterna como factor de riesgo para malformaciones congénitas

Analysis of maternal and paternal age of cases(malformed newborns) and controls from ECLAMC Database (Latin American CollaborativeStudy of Congenital Malformations) registered at the University of Chile Clinical Hospital duringthe decade from Jan 1 1997 to Dec 31 2006. Newborns and stillborns were grouped according tomaternal age into 6 intervals. In each interval, paternal ages of cases and controls werecompared. The inverse procedure was performed to assess maternal age effect. Other variables asgestational age and birth weight were analyzed for the intervals of maternal and paternal ages.

Experiencia del registro electrónico de pacientes en un Servicio Universitario de Neonatología

is used as database administrator and access to data is protected with passwords. Dataentry is made by health care professionals in charge of the patients. Patient’s reports andstatistical information are based on data entered to the system. This methodology allows to haveupdate clinical data, indexing of information, to maintain track of pharmacologicalindications, prescribe parenteral nutrition and obtain information for research purpose. It ispossible therefore, with a minimal computing expertise, to devise electronic files that canimprove the quality of health care (Rev Med Chile 2005; 133: 241-5).(

Prevalencia de malformaciones congénitas al nacer y factores asociados en Isla de Pascua, Chile (1988-1998)

Background: Consanguinity plays an important role in the genetic etiology of congenital malformations. In Easter Island the degree of consanguinity could be higher than in continental Chile. Therefore the study of the prevalence of congenital malformations in this island seems worthwhile. Aim: To study the prevalence of congenital malformations at birth in Easter Island. Material and methods: A review of personal and family features of all children born alive between 1988 and 1998 in the Rapa Nui Hospital of Easter Island. Results: During the study period, 772 newborns were reviewed and 22 were found to have congenital malformations. Among the latter, birth weight fluctuated between 3001 and 4000 g and the male/female ratio was 0.54. No differences in maternal age between children with and without malformations was observed. Heart and circulatory malformations, hemangiomas and Down syndrome were the predominant malformations. Conclusions: The prevalence of congenital malformations at birth in Easter Island is similar to that of continental Chile. No neural tube defects were detected in this sample.

Cambios en la distribución etaria de las madres en Chile y en el Hospital Clínico de la Universidad de Chile y su influencia en la morbimortalidad neonatal

Antecedentes: En las ultimas decadas en Chile y otros paises Sudamericanos se ha producido un cambio en la distribucion etaria de las madres. Objetivos: Obtener la distribucion de los nacimientos por grupos de edades maternas en el Hospital Clinico de la Universidad de Chile (HCUCH) y compararlos con iguales grupos en todo Chile. Comprobar que los grupos de edades extremas estan aumentando. Estudiar la relacion entre estos cambios con algunas patologias del recien nacido, como prematuridad, recien nacidos pequenos para su edad gestacional (PEG) y malformaciones congenitas. Metodo: Datos de la maternidad del HCUCH (1982-2010) y del Ministerio de Salud (1990-2008). Se distribuye a las madres en 3 grupos: 35 y 20-34 anos. Las comparaciones se hicieron con prueba de Chi Cuadrado. Resultados: En Chile el grupo de madres >35 anos aumento en mas del 50% al comparar los anos 1990 (10,2% del total) y 2008 (15,8%) (p 35 anos aumentaron significativamente, al igual que en Chile, de 9,8% en 1982 a 22,17% en el ano 2010 (p 35 anos se asocia con mayor cantidad de RN femeninos, malformaciones congenitas, sindrome de Down y partos por cesarea.

Defectos de la pared abdominal: Estudio comparativo entre onfalocele y gastrosquisis

Introduccion: Onfalocele y gastrosquisis son los defectos de la pared abdominal (DPA) mas frecuentes, que por su importancia y las diferencias entre ellos merecen ser estudiados en forma especial. Objetivos: Establecer las tasas de prevalencia de onfalocele y gastroaquisis al nacimiento. Verificar variaciones de ellas en distintos periodos. Estudiar la morbimortalidad asociada y su sobrevida. Pacientes y Metodo: Se reviso la base de datos ECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congenitas) para el periodo 1996-2010. Resultados: Se pesquizaron 33 recien nacidos (RN) con DPA. (11,6 por 10.000 nacimientos). De ellos 19 fueron onfalocele (6,7 por 10.000) y 14 (4,9 por 10.000) gastrosquisis. Los ninos con onfalocele tenian significativamente mayor asociacion con otras malformaciones, su frecuencia en el sexo masculino fue mayor y mostro mayor letalidad que la gastrosquisis. Todos los ninos con gastrosquisis nacieron vivos, con predominio del sexo femenino, sus madres eran significativamente mas jovenes. Conclusion: Onfalocele y gastros-quisis presentaron una prevalencia al nacimiento mayor que lo publicado, probablemente por ser el HCUCH un Centro de Referencia. Ambas anomalias mostraron un aumento significativo en sus tasas de prevalencia al nacimiento al compararlas con las obtenidas anteriormente por nosotros en el mismo hospital. Se demostro diferencias significativas entre estas dos entidades: Onfalocele tiene mayor mortinatalidad, mortalidad y letalidad, mayor frecuencia de malformaciones asociadas y mayor promedio de edad materna.