COL1A1, COL4A3, TIMP2 and TGFB1 polymorphisms in cervical insufficiency.

OBJECTIVES: To investigate the association between selected single nucleotide polymorphisms (SNPs) with cervical insufficiency and its relationship with obstetric history. METHODS: Twenty-eight women with cervical insufficiency (case group) and 29 non-pregnant women (control group) were included. The SNPs sequenced included rs2586490 in collagen type I alpha 1 chain (COL1A1), rs1882435 in collagen type IV alpha 3 chain (COL4A3), rs2277698 in metallopeptidase inhibitor 2 (TIMP2), and rs1800468 in transforming growth factor beta 1 (TGFB1). RESULTS: We found a higher frequency of the normal allele in the control group (65.5%) and the homozygous mutated genotype in the case group (64.3%) for rs2586490 in COL1A1 (p=0.023). An unplanned finding in the cervical insufficiency group was a higher gestational age of delivery (median≥38 weeks) in the mutated allele than in the wild-type genotype (median of 28.2 weeks) for rs2857396, which is also in the COL1A1 gene (p=0.011). CONCLUSIONS: The findings of the present study corroborate the hypothesis that cervical insufficiency has a genetic component and probably involves genes encoding proteins in the extracellular matrix, in addition to inflammatory processes.

[Socio demographic characterization and perinatal outcome of pregnancies with ultrasonographic diagnosis of major fetal malformation in a referral centre]. / Caracterização sociodemográfica e resultados perinatais das gestações com diagnóstico ultrassonográfico de malformação fetal.

OBJECTIVE: The purpose of this study is to describe the socio demographic profile and perinatal outcome of pregnant women with prenatal ultrasound diagnosis of major fetal malformation at the Hospital das Clínicas, Medical School, São Paulo University. The study was performed from December 15th 2005 to December 15th 2006. METHODS: This is an observational descriptive study where 335 pregnant women were interviewed after agreement. Postnatal information was obtained until a month after due date of birth. Cases that were not confirmed and did not consent to participate in the study were excluded. RESULTS: Mean maternal age was 27.1 years and skin color was brown in 48.1% of cases. According to the education level and salary, 57.8% did not finish college and the mean monthly income was 3.1 minimal wages. A previous history of fetal malformation was reported by 10.4% of women. The central nervous system was the most frequent site of malformation (28.1%), followed by renal (9.3%) and cardiac (9%) defects. Fetal karyotype results were abnormal in 23.6% of fetuses. Pregnancy outcome was ascertained in 311 cases (92.8%): 76.8% were alive, 25.7% were neonatal deaths, 16.4% were stillborn and 6.3% miscarried. CONCLUSION: This study describes social demographic features and perinatal outcome in pregnancies with major fetal malformation diagnosed antenatally. This information is useful for parent counseling in cases with an abnormal fetal diagnosis.

Caracterização sociodemográfica e resultados perinatais das gestações com diagnóstico ultrassonográfico de malformação fetal / Socio demographic characteriation and perinatal outcome of pregnancies with ultrasonographic diagnosis of major fetal malformation in a referral centre

OBJETIVO: Caracterizar, do ponto de vista sociodemográfico, e obter a evolução pós-natal, das gestantes com diagnóstico ultrassonográfico pré-natal de malformação fetal maior, atendidas no Setor de Medicina Fetal do Hospital das Clínicas (HC) da Faculdade de Medicina da Universidade de São Paulo, entre 15/12/2005 e 15/12/2006. METHODS: Estudo descritivo com 335 gestantes entrevistadas após a obtenção do termo de consentimento pós-informado. Os dados pós-natais foram obtidos mediante contato até um mês após a data provável do parto. Foram excluídas aquelas que não aderiram e que não tiveram confirmação da malformação fetal. RESULTADOS: A idade materna média das gestantes foi de 27,1 anos; a cor da pele predominante parda (48,1 por cento). Em relação à escolaridade, 57,8 por cento das gestantes apresentavam grau de escolaridade igual ou inferior ao ensino médio completo. A renda salarial média foi de 3,1 salários mínimos. Quanto aos antecedentes de malformação fetal, 10,4 por cento das gestantes o referiram. Dentre os casos de malformação atual, as do sistema nervoso central foram as mais prevalentes (28 por cento), seguidas das malformações renais (9,2 por cento) e cardíacas (8,9 por cento). Das gestantes submetidas à pesquisa do cariótipo fetal, 23,6 por cento obtiveram resultados anormais. Em 311 casos (92,8 por cento), o resultado da gestação foi obtido. Destes, 76,8 por cento nasceram vivos; 25,7 por cento evoluíram com óbito neonatal; 16,4 por cento foram natimortos e em 6,3 por cento houve interrupção da gestação. CONCLUSÃO: O presente estudo permitiu conhecer as características sociodemográficas e os resultados gestacionais de mulheres com diagnóstico de malformação fetal, o que poderá ser útil para o planejamento periconcepcional deste grupo de pacientes.

OBJECTIVE: The purpose of this study is to describe the socio demographic profile and perinatal outcome of pregnant women with prenatal ultrasound diagnosis of major fetal malformation at the Hospital das Clínicas, Medical School, São Paulo University. The study was performed from December 15th 2005 to December 15th 2006. METHODS: This is an observational descriptive study where 335 pregnant women were interviewed after agreement. Postnatal information was obtained until a month after due date of birth. Cases that were not confirmed and did not consent to participate in the study were excluded. RESULTS: Mean maternal age was 27.1 years and skin color was brown in 48.1 percent of cases. According to the education level and salary, 57.8 percent did not finish college and the mean monthly income was 3.1 minimal wages. A previous history of fetal malformation was reported by 10.4 percent of women. The central nervous system was the most frequent site of malformation (28.1 percent), followed by renal (9.3 percent) and cardiac (9 percent) defects. Fetal karyotype results were abnormal in 23.6 percent of fetuses. Pregnancy outcome was ascertained in 311 cases (92.8 percent): 76.8 percent were alive, 25.7 percent were neonatal deaths, 16.4 percent were stillborn and 6.3 percent miscarried. CONCLUSION: This study describes socialdemographic features and perinatal outcome in pregnancies with major fetal malformation diagnosed antenatally. This information is useful for parent counselingin cases with an abnormal fetal diagnosis.

Crenças sobre gestação, parto e maternidade em mulheres gestantes com histórico de abortamento habitual / Befiefs on maternity, childbirth, and maternity in pregnant women with a background of habitual abortion

Este estudo tem como objetivo identificar as crenças existentes no período gestacional acerca da gestação e maternidade, bem como investigar as expectativas em relação ao parto. Foram entrevistadas 32 gestantes, em acompanhamento pré-natal no Ambulatório de Abortamento Habitual. Foram realizadas entrevistas semidirigidas, com um questionário previamente elaborado. A análise dos dados foi desenvolvida através de uma análise quantitativa e, qualitativa, por meio da técnica de Análise de Conteúdo. Os resultados obtidos versam sobre a influência da cultura e dos valores sociais enquanto fatores importantes às questões referentes à gestação e a maternidade. Conclui-se que, para essas mulheres, gerar um filho é uma tentativa de dar novo sentido à vida, sendo uma realização mais do que pessoal, social, instituída culturalmente à mulher. A reprodução é vista como uma norma social, em que se espera das mulheres desejem e gerem filhos, colocando-as em uma posição extremamente vulnerável ante a impossibilidade de gerá-los.(AU)

This study has as its purpose the identification of existing beliefs during the period of pregnancy on pregnancy itself and maternity. In addition, the study proposes to investigate expectations in relation to birth in pregnant women. A sample of 32 pregnant women was used. Semi structured interviews were employed, with a previously prepared questionnaire. The data analysis was both quantitative and qualitative, and carried out through the Content Analysis Technique. The results obtained related to the influence of culture and social values as important factors in the issues of pregnancy and maternity. The study concluded that, for these women, giving birth to a child is an attempt to give new meaning to life, this being a social duty that is actually expected of women more than being something personal, in which reproduction and the desire to bring forth children is seen as a social norm. This puts them in an extremely vulnerable position when they find it impossible to do so.(AU)

Mortalidade materna: as hemorragias no ciclo gravidico-puerperal / Maternal mortality: the hemorrhagics syndromes of the gestational period

As sindromes hemorragicas sao uma das principais causas de mortalidade materna. Sua classificacao pode ser feita conforme a fase do clico gravidico-puerperal em que ocorre. No periodo pre-parto, destacam-se o deslocamento...