Alcohol consumption during pregnancy by women from southern Brazil: a cross-sectional study.

BACKGROUND: Some maternal characteristics are related to alcohol intake during pregnancy, which irreversibly compromises the maternal-fetal binomial integrity. OBJECTIVES: To identify the frequency, impact, and factors associated with alcohol consumption during pregnancy. DESIGN AND SETTING: A cross-sectional study was performed at the Hospital Materno Infantil Presidente Vargas (HMIPV) in Porto Alegre/RS between March and December 2016. METHODS: A structured questionnaire was administered along with a medical records review. They refer to the maternal sociodemographic and gestational status, alcohol consumption patterns, and characteristics of the fetus/newborn. In the statistical analysis, P values < 0.05 were considered significant. RESULTS: The frequency of alcohol intake was 37.3%; this was characterized by the consumption of fermented beverages (89.3%), especially during the first trimester (79.6%). Risky consumption (high and/or early) occurred for 30.2% of participants. Risk factors associated with maternal alcohol consumption during pregnancy were tobacco use (P < 0.001) and abortion attempt (P = 0.023). Living with a partner (P = 0.002) and planning pregnancy (P = 0.009) were protective factors. Risky consumption was related to all of the aforementioned variables as well as threatened abortion (P = 0.023). CONCLUSIONS: Alcohol intake during pregnancy is common and affects nearly one-third of pregnant women. Knowledge of the population at risk and protective factors is essential for the development of campaigns that seek to reduce consumption and, therefore, its consequences for the mother and fetus.

Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil / Coorte retrospectiva de trissomia do cromossomo 18 (síndrome de Edwards) no sul do Brasil

CONTEXT AND OBJECTIVE:Trisomy 18 (T18), or Edwards syndrome, is a chromosomal disease characterized by a broad clinical picture and a poor prognosis. Our aim was to describe clinical, radiological and survival data of a cohort of patients prenatally diagnosed with T18.DESIGN AND SETTING:Retrospective single cohort in the Fetal Medicine Service of Hospital Materno Infantil Presidente Vargas (HMIPV).METHODS:All sequential patients with T18 registered at the Fetal Medicine Service of HMIPV between January 2005 and September 2013 were considered. We gathered their clinical, radiological and survival data and used the Kaplan-Meier test for survival analysis.RESULTS:Ten patients were diagnosed with T18, of whom seven (70%) were female. The majority (90%) were referred due to malformations seen on ultrasound. The mean gestational age at the first evaluation was 25.5 weeks. At karyotyping, the defects were considered multiple in only four patients (40%). All the fetuses presented full trisomy of chromosome 18. The main abnormality observed was congenital heart disease (n = 7). Intrauterine death occurred in half of the patients (50%). All live patients (n = 5) were born through cesarean section presenting low weight and low Apgar scores. The median length of survival after birth was 18 days.CONCLUSIONS:T18 is associated with a high risk of fetal and neonatal death. The majority of the patients present major malformations identified through ultrasound, such as congenital heart defects, which could help in identifying such cases prenatally.

CONTEXTO E OBJETIVO:A trissomia do cromossomo 18 (T18), ou síndrome de Edwards, é uma doença cromossômica caracterizada por um quadro clínico amplo e prognóstico pobre. Nosso objetivo foi descrever os dados clínicos, radiológicos e de sobrevida de uma coorte de pacientes com diagnóstico pré-natal de T18.TIPO DE ESTUDO E LOCAL:Coorte única retrospectiva no Serviço de Medicina Fetal do Hospital Materno Infantil Presidente Vargas (HMIPV).MÉTODOS:Foram considerados todos os pacientes consecutivos com T18 registrados no Serviço de Medicina Fetal do HMIPV entre janeiro de 2005 e setembro de 2013. Foram coletados os seus dados clínicos, radiológicos e de sobrevida. Foi utilizado o teste de Kaplan-Meier para análise de sobrevida.RESULTADOS:10 pacientes foram diagnosticados com T18, 7 (70%) do sexo feminino. A maioria (90%) foi encaminhada devido a malformações detectadas no ultrassom. A média da idade gestacional na primeira avaliação foi de 25,5 semanas. Ao cariótipo, os defeitos foram considerados múltiplos em apenas 4 pacientes (40%). Todos apresentaram trissomia livre do cromossomo 18. A principal anormalidade observada foi a cardiopatia congênita (n = 7). Morte intraútero ocorreu em metade dos pacientes (50%). Todos os pacientes vivos (n = 5) nasceram através de parto cesáreo, apresentando baixo peso e baixos escores de Apgar. A mediana de sobrevida após o nascimento foi de 18 dias.CONCLUSÕES:A T18 associa-se a risco elevado de morte fetal e neonatal. A maioria dos pacientes apresenta malformações identificadas através do ultrassom, como cardiopatias congênitas, que poderiam auxiliar na sua identificação pré-natal.

Retrospective cohort of trisomy 18 (Edwards syndrome) in southern Brazil.

CONTEXT AND OBJECTIVE: Trisomy 18 (T18), or Edwards syndrome, is a chromosomal disease characterized by a broad clinical picture and a poor prognosis. Our aim was to describe clinical, radiological and survival data of a cohort of patients prenatally diagnosed with T18. DESIGN AND SETTING: Retrospective single cohort in the Fetal Medicine Service of Hospital Materno Infantil Presidente Vargas (HMIPV). METHODS: All sequential patients with T18 registered at the Fetal Medicine Service of HMIPV between January 2005 and September 2013 were considered. We gathered their clinical, radiological and survival data and used the Kaplan-Meier test for survival analysis. RESULTS: Ten patients were diagnosed with T18, of whom seven (70%) were female. The majority (90%) were referred due to malformations seen on ultrasound. The mean gestational age at the first evaluation was 25.5 weeks. At karyotyping, the defects were considered multiple in only four patients (40%). All the fetuses presented full trisomy of chromosome 18. The main abnormality observed was congenital heart disease (n = 7). Intrauterine death occurred in half of the patients (50%). All live patients (n = 5) were born through cesarean section presenting low weight and low Apgar scores. The median length of survival after birth was 18 days. CONCLUSIONS: T18 is associated with a high risk of fetal and neonatal death. The majority of the patients present major malformations identified through ultrasound, such as congenital heart defects, which could help in identifying such cases prenatally.

Comorbidity between Klinefelter syndrome and diaphragmatic hernia. A case report / Comorbidade entre síndrome de Klinefelter e hérnia diafragmática.Um relato de caso

CONTEXT: Intrathoracic cystic lesions have been diagnosed in a wide variety of age groups, and the increasing use of prenatal imaging studies has allowed detection of these defects even in utero. CASE REPORT: A 17-year-old pregnant woman in her second gestation, at 23 weeks of pregnancy, presented an ultrasound with evidence of a cystic anechoic image in the fet al left hemithorax. A morphological ultrasound examination performed at the hospital found that this cystic image measured 3.7 cm x 2.1 cm x 1.6 cm. Polyhydramnios was also present. At this time, the hypothesis of cystic adenomatoid malformation was raised. Fet al echocardiography showed only a dextroposed heart. Fet al magnetic resonance imaging produced an image compatible with a left diaphragmatic hernia containing the stomach and at least the first and second portions of the duodenum, left lobe of the liver, spleen, small intestine segments and portions of the colon. The stomach was greatly distended and the heart was shifted to the right. There was severe volume reduction of the left lung. Fet al karyotyping showed the chromosomal constitution of 47,XXY, compatible with Klinefelter syndrome. In our review of the literature, we found only one case of association between Klinefelter syndrome and diaphragmatic hernia. CONCLUSIONS: We believe that the association observed in this case was merely coincidental, since both conditions are relatively common. The chance of both events occurring simultaneously is estimated to be 1 in 1.5 million births. .

CONTEXTO: Lesões císticas intratorácicas são diagnosticadas em ampla variedade de faixas etárias, e o uso aumentado dos estudos de imagem pré-natal tem permitido a detecção desses defeitos ainda intraútero. RELATO DO CASO: Uma gestante de 17 anos que estava em sua segunda gravidez, com 23 semanas de gestação, apresentava ultrassom com evidência de imagem cística anecoica no hemitórax esquerdo fet al. O ultrassom morfológico realizado no hospital verificou que esta media 3,7 cm x 2,1 cm x 1,6 cm. Evidenciou-se também a presença de polidrâmnio. Neste momento, levantou-se a hipótese de malformação adenomatoide cística. A ecocardiografia fet al mostrou apenas coração desviado para a direita. A ressonância magnética fet al revelou imagem compatível com hérnia diafragmática à esquerda, contendo estômago e, pelo menos, primeira e segunda partes do duodeno, lobo esquerdo do fígado, baço, segmentos de intestino delgado e porções do cólon. O estômago mostrava-se muito distendido e o coração, deslocado para a direita. Havia redução importante do volume do pulmão esquerdo. O cariótipo fet al mostrou constituição cromossômica 47,XXY, compatível com a síndrome de Klinefelter. Em nossa revisão da literatura, encontramos apenas um caso de associação entre síndrome de Klinefelter e hérnia diafragmática. CONCLUSÃO: Acreditamos que a associação observada neste caso foi puramente uma coincidência, uma vez que ambas as condições são relativamente comuns. A chance de os dois eventos ocorrerem simultaneamente é estimada em 1 em 1,5 milhões de nascimentos. .

Comorbidity between Klinefelter syndrome and diaphragmatic hernia. A case report.

CONTEXT: Intrathoracic cystic lesions have been diagnosed in a wide variety of age groups, and the increasing use of prenatal imaging studies has allowed detection of these defects even in utero. CASE REPORT: A 17-year-old pregnant woman in her second gestation, at 23 weeks of pregnancy, presented an ultrasound with evidence of a cystic anechoic image in the fet al left hemithorax. A morphological ultrasound examination performed at the hospital found that this cystic image measured 3.7 cm x 2.1 cm x 1.6 cm. Polyhydramnios was also present. At this time, the hypothesis of cystic adenomatoid malformation was raised. Fet al echocardiography showed only a dextroposed heart. Fet al magnetic resonance imaging produced an image compatible with a left diaphragmatic hernia containing the stomach and at least the first and second portions of the duodenum, left lobe of the liver, spleen, small intestine segments and portions of the colon. The stomach was greatly distended and the heart was shifted to the right. There was severe volume reduction of the left lung. Fet al karyotyping showed the chromosomal constitution of 47,XXY, compatible with Klinefelter syndrome. In our review of the literature, we found only one case of association between Klinefelter syndrome and diaphragmatic hernia. CONCLUSIONS: We believe that the association observed in this case was merely coincidental, since both conditions are relatively common. The chance of both events occurring simultaneously is estimated to be 1 in 1.5 million births.

Defeitos congênitos no Rio Grande do Sul: diagnóstico ultrassonográfico pelo estudo morfológico fetal / Congenital defects in Rio Grande do Sul: ultrasonographic diagnosis by fetal morphologic study

Introdução: A motivação deste estudo foi analisar a frequência de malformações congênitas no Rio Grande do Sul, enfocando especialmente aquelas passíveis de diagnóstico pré-natal. Métodos: Estudo descritivo de base populacional dos bancos de dados oficiais do Rio Grande do Sul no período de 2001 a 2005. Incluídos todos os recém-nascidos vivos registrados ao nascimento como portadores de uma ou mais anomalias no campo 34 da Declaração de Nascidos Vivos. Esses dados foram confrontados com crianças falecidas com menos de um ano, com causa mortis defeito congênito e com os óbitos fetais. Foram analisados 25 defeitos ou grupos de defeitos. Foram estudadas as possibilidades de diagnóstico pré-natal dos principais defeitos congênitos através da ultrassonografia, tendo como base a literatura. Resultados: Os 25 defeitos ou grupos representaram 81,7% do total de recém-nascidos com defeitos identificados no nascimento e 86,7% do total das mortes até 1 ano por defeitos congênitos no período. A ocorrência geral de defeitos diagnosticados no nascimento no período foi de 0,81%. Calculou-se que para cada caso de cardiopatia diagnosticado no nascimento cerca de 3 casos não foram percebidos e faleceram no 1o ano de vida. Esses cálculos foram expressivos também para trissomias do 13 e 18, hérnia diafragmática e sistema nervoso central. Conclusões: 25 malformações congênitas ou grupos de malformações que corresponderam a mais de 80% dos defeitos congênitos. Alguns defeitos congênitos registrados ao nascimento no Campo 34 da Declaração de Nascidos Vivos parecem estar subestimados, especialmente aqueles cujo diagnóstico necessita de exames especializados, como as cardiopatias Congênitas

Introduction: The aim of this study was to analyze the frequency of congenital malformations in Rio Grande do Sul, focusing mainly on those which are prenatally diagnosable. Methods: A population-based descriptive study of official databanks of Rio Grande do Sul from 2001 to 2005. All live births registered at birth as having one or more anomalies in field 34 of the Statement of Live Births were included. These data were compared with children who died under one year of age with congenital defects as cause of death and with fetal deaths. We analyzed 25 defects or groups of defects. Based on the literature, the possibilities of prenatal diagnosis of major congenital defects by ultrasound, were studied. Results: The 25 defects or defect groups represented 81.7% of newborns with defects identified at birth and 86.7% of total deaths up to 1 year for defects in the period. The overall occurrence of birth defects diagnosed in the period was 0.81%. It was calculated that for every case of heart disease diagnosed at birth, about 3 cases were not perceived and infants died in the first year of life. These ratios were also expressive for cases of trisomy 13 and 18, diaphragmatic hernia, and central nervous system. Conclusions: 25 congenital malformations or groups of malformations that accounted for over 80% of birth defects. Some birth defects recorded at birth in Field 34 of the Statement of Live Births appear to be underestimated, especially those whose diagnosis requires specialized tests, such as congenital heart disease

Defeito de fechamento do tubo neural: a experiência do serviço de medicina fetal do HMIPV / Neural tube defects: the HMIPV fetal medicine group experience 2006 – 2008

Introdução: Entre 2% e 3% dos recém-nascidos apresentam uma anomalia maior, das quais os defeitos de fechamento do tubo neural (DFTN) representam o grupo mais pesquisado – após os defeitos congênitos do coração, é o segundo defeito mais comum. Os DFTNs apresentam uma taxa de mortalidade significativa, a qual pode responder por mais de 50% das mortes por malformações, além de um alto impacto na saúde dos sobreviventes. O objetivo deste trabalho foi estudar os casos de DFTN acompanhados pelo Serviço de Medicina Fetal do HMIPV para conhecer a distribuição e evolução dessas anomalias e comparar com a literatura. Métodos: Foram estudados 1.354 laudos ecográficos do Serviço de Medicina Fetal do HMIPV no período de janeiro de 2006 a dezembro de 2008, resultando em 58 gestações cujo feto apresentava alguma anomalia congênita. Dessas, foram selecionadas as gestações com diagnóstico ecográfico e posterior confirmação pós-natal de anencefalia, cefalocele ou espinha bífida, totalizando 13 casos. Resultados: Houve seis (46,1%) casos de anencefalia, três (23,1%) cefaloceles, três (23,1%) espinhas bífidas e um (7,7%) caso de mais de um DFTN associado. Apenas 38,5% dos defeitos foram isolados. O sexo feminino foi o mais acometido, e a faixa etária materna mais acometida foi 16 a 20 anos; 84,6% abaixo de 30 anos. Em 30,8% das gestações estavam presentes conhecidos fatores de risco para o desenvolvimento de DFTN. Conclusão: Anencefalia e espinha bífida foram os defeitos mais comuns. Houve uma maior associação de outras malformações assim como a presença de fatores de risco conhecidos para o desenvolvimento de DFTN

Introduction: From 2% to 3% of newborns have a major anomaly, of which neural tube defects (NTDs) is the most investigated group – after congenital heart defects, it is the second most common defect. The NTDs have a significant mortality rate, which may account for more than 50% of deaths from malformations, and a high impact on the health of survivors. The aim here was to study the cases of NTD followed by the HMIPV Fetal Medicine Group so as to understand the distribution and evolution of these anomalies and to compare with the literature. Methods: A total of 1,354 ultrasonographic reports of the HMIPV Fetal Medicine Service from January 2006 to December 2008 were studied, resulting in 58 pregnancies where the fetus had some congenital abnormality. From these we selected pregnancies with ultrasonographic diagnosis and subsequent postnatal confirmation of anencephaly, encephalocele or spina bifida, which amounted to 13 cases. Results: There were six (46.1%) cases of anencephaly, three (23.1%) cases of encephaloceles, three (23.1%) cases of spina bifida, and one (7.7%) case of more than one associated NTD. Only 38.5% of the defects were isolated. Females were more affected, and the most affected maternal age group was 16-20 years; 84,6% under 30 years. In 30.8% of these pregnancies well-known risk factors for the development of NTD were present. Conclusion: Anencephaly and spina bifida were the most common defects. There was a higher association of other malformations as well as the presence of known risk factors for the development of NTD

Analgesia e anestesia no parto normal / Analgesie and anesthesie in natural delivery

Os autores abordam, historicamente, os métodos analgésicos utilizados no trabalho de parto e parto vaginal, citando suas vantagens e efeitos colaterais. O mecanismo da dor, a transferência placentar de drogas e sua influência na motilidade uterina, na progressäo do parto, na mäe, feto e recém-nascido säo discutidos

Influência da idade sobre as lipoproteínas plasmáticas e a doença isquêmica do coraçäo / Influence of the age on the plasma lypoproteins and ischemic heart disease

Mostram-se as modificaçöes que ocorrem nos lipídeos e lipoproteínas plasmáticas em pessoas idosas com doença isquêmica do coraçäo. Os homens apresentaram uma diminuiçäo nos níveis plasmáticos do HDL e HDL2 - colesterol entre os jovens e idosos, enquanto que as mulheres mostraram um aumento nos níveis plasmáticos do LDL - colesterol entre jovens e idosas