145 research outputs found

    Fetal medicine

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    Analisamos aqui alguns aspectos da medicina fetal, especialidade que não existia há apenas 30 anos. É certo que, atualmente, outros aspectos estão sendo pesquisados, para que possam ser utilizados na prática clínica após sua comprovação. Algumas das doenças arroladas são raras, havendo poucos relatos na literatura, o que dificulta o seu manejo. Sobre qualquer procedimento a ser implementado, o seu benefício deve estar claro e este deve sobrepujar o risco. Além disso, importante é a questão do treinamento, a prática antes da implementação de um novo procedimento. A terapêutica do futuro deverá passar pela localização gênica precisa e seu manejo precoce (quando alterada), por melhores formas de intervenção intra-uterina com diminuição dos riscos gestacionais, respeitando sempre o objetivo de uma melhor qualidade de vida para a grávida e seu feto.It is our objective to analyze some characteristics of fetal medicine, a specialization that has existed for over 30 years. To be sure, research in the area of fetal medicine has broadened its spectrum in order to obtain results that should be used in future clinical practices. Some of the diseases listed are rare and, thus, difficult to be handled. The advantages of new procedures should be well-understood before they are put into practice and should surmount the risks. It is also important to underscore the importance of processes of training before new procedures are implemented. In the future, the treatment in fetal medicine will consolidate precise mapping of genes, early management of genetic alterations, and improved forms of intrauterine intervention with reduced gestational risks. It should be emphasized that the decisions of pregnant women should always be observed as to what concerns the search for a better quality of life for the mother and, consequently, for the baby

    A comparativo study between transvaginal and transabdominal ultrasound in the evaluation of the endometrium of women with spontaneous and induced menstrual cycles

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    Estudamos a espessura e a textura do endométrio comparando-se US transabdominal com US transvaginal. Avaliamos 45 pacientes do ambulatório de Ginecologia e Infertilidade do Hospital de Clínicas de Porto Alegre, entre abril de 1990 e junho de 1992. As 45 pacientes foram divididas em três grupos: grupo A, com ciclos menstruais espontâneos; grupo B.1, com ciclos induzidos pelo citrato de clomifeno; grupo B.2, com ciclos induzidos pelo citrato de clomifeno/gonadotropina humana da menopausa/gonadotropina coriônica humana. No grupo A foram estudados o oitavo, décimo, 122 e 212 dias do ciclo menstrual. Nos grupos B.l e B.2 estudaram-se os mesmos dias, excluindo-se o 212. Nos grupos A e B.1, a espessura endometrial medida pela US transvaginal foi significantemente maior quando comparada com a transabdominal, excetuando-se o primeiro dia do exame, quando os resultados sugerem igualdade. No grupo B.2, não houve diferença significante de resultados, excetuando-se o primeiro dia do exame, quando os resultados sugerem igualdade. A textura do endométrio foi absolutamente coincidente quando se comparou a via transabdominal com a transvaginal.In order to teste the transvaginal ultrasound we measured the endometrial thickness and texture and compared it with the transabdominal ultrasound in 45 patients from the Gynecology and Infertility Ambulatory in the Hospital de Clínicias de Porto Alegre, between April 1990 and June 1992. The 45 patients were divided in three groups: group A, with spontaneous menstruai cycles; group B.1, with cycles induced through clomiphene citrate; group B.2, with cycles induced through clomiphene citrate/human menopausal gonodotropin/human chorionic gonadotropin. In group A the 8th, 1Oth, 12th and 21st days of the menstrual cycle were studied. The same days were studied in groups B.1 and B.2, with the exception of the 21st. In group A and B.1 the endometrial thickness measured by transvaginal ultrasound was significantly higher than compared to transabdominal, with the exception of the first day of examination, when the results suggest equality. There was no significant difference in group B.2, except on the first day examined, when the results suggest equality. The endometrial texture was absolutely coincidental when transvaginal and transabdominal ultrasound were compared

    Relation between sexual activity and obstctrical complications

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    Os autores apresentam uma revisão da literatura onde os trabalhos relacionam a atividade sexual durante a gestação e algumas patologias como o trabalho de parto prematuro e rotura prematura de membranas amnióticas (ROPREMA) entre outras. Tentase avaliar a existência ou não de prejuízo ao feto, causado pela atividade sexual durante o período gestacional.The authors discuss, through this literature review, the results of studies which try to prove the relation between sexual activity on gestational period and some pathologies, for example premature delivery and abruption placentae. Thus the authors try to show what is true about belief that sexual activity in this period could damage the fetus

    Placental mesenchymal dysplasia and intrauterine fetal growth restriction with doppler velocimetry alterations - a case report

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    Placental mesenchymal dysplasia (PMD) is a rare placental abnormality. We report a case of PMD associated with intrauterine growth restriction (IUGR), which was diagnosed by an ultrasound scan during the second trimester of pregnancy. A 36-year-old primiparous woman with signs of placental chorioangioma was referred to our hospital at the 23th gestational week. An ultrasonography revealed a small-for-gestational-age fetus with a large multicystic placenta. A serial Doppler sonographic assessment of umbilical and uterine artery blood flow showed a compromised fetus. A female, small-for-gestational-age baby was delivered by c-section at 28 weeks, and PMD was histopathologically confirmed

    Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis Type II

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    Introduction: Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal disorder caused by deficiency of iduronate-2-sulfatase (IDS). In this study, we proposed a new protocol for prenatal diagnosis, using DNA obtained from amniotic fluid cells that did not attach to the bottom of the culture flask after the first medium change. Methods: Four pregnant MPS II carriers were referred to the Medical Genetics Service of Hospital de Clinicas de Porto Alegre for a prenatal diagnosis and identification of the disease, which were performed by polymerase chain reaction (PCR) amplification, restriction fragment length polymorphism, and sequencing according to the mutation previously found in the family. Results: The analysis indicated the absence of mutation in three fetal materials and the presence of mutation in one case. Concomitantly, cytogenetic and biochemical analyses were performed after 12 days of cell culture, and only one case showed absence of enzyme activity, confirming the molecular analysis. Conclusions: This diagnostic protocol designed to provide more robust results and safer genetic counseling suggests that DNA obtained from floating amniotic fluid cells can be used as a source of fetal material to allow a faster alternative for prenatal care through molecular analysis. Determination of IDS gene mutation in fetal amniotic fluid cells together with IDS enzyme activity testing is a rapid, sensitive and accurate method for prenatal diagnosis of MPS II for high-risk pregnant women
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