Estudo da Prevalência de Anomalias Cromossómicas em Abortamentos Espontâneos ou Mortes Fetais

Bastos, Raquel Littério de; Ramalho, Carla; Dória, Sofia

doi:10.20344/amp.3952

Cited by 7 publications

(6 citation statements)

References 29 publications

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“…Various chromosomal changes are particularly predominant in cases of abortion. Most chromosomal disorders are sporadic and have little risk of recurrence, but their analysis is important for couples and has a prognostic value in terms of the next pregnancy [ 18 ]. Chromosomal problems in the form of aneuploidy (trisomy-monosomy) and polyploidy (triploidy-tetraploidy) are determining factors in at least 50% of first trimester abortions, 25% of second, and 11% of third trimester miscarriages [ 19 ].…”

Section: Discussionmentioning

confidence: 99%

Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials

Yildirim,

Karakus,

Kurtulgan

et al. 2023

Balkan Journal of Medical Genetics

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Objectives Chromosomal abnormalities are an important cause of especially early miscarriages. The aim of this study was to analyze the chromosomal aberrations and determine the frequencies of numerical and structural chromosome abnormalities in spontaneous abortion materials. Methods This was a prospective research and ninety two abortion samples obtained from women who had one or more miscarriages were included in the study. Conventional karyotype analysis was performed on each sample to identify possible chromosomal abnormalities. Results By karyotype analysis, 11 polyploidy cases, (9 triploids and 2 tetraploids), 8 trisomies (one of which was mosaic), 2 monosomies (monosomy X), 1 isochromosome, 1 Xq deletion, and 4 translocations were detected in abortion materials. Isochromosome and Xq deletion cases were also mosaic. In addition, five polymorphic variants were revealed. We found higher paternal age in polyploidy cases. Conclusion The most common anomaly we found in abortion materials was polyploidy. This was followed by aneuploidy (trisomy and monosomy). Polyploidy (triploidy or tetraploidy) emerged as an important cause in cases of spontaneous abortion. Paternal age may be associated with polyploidy especially triploidy.

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Section: Discussionmentioning

confidence: 99%

Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials

Yildirim,

Karakus,

Kurtulgan

et al. 2023

Balkan Journal of Medical Genetics

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“…Hábitos de vida como consumo de bebidas alcoólicas, cafeína, tabagismo e sobrepeso (Costa et al, 2014;Feodor et al, 2014), bem como alterações cromossômicas, são citadas como fatores de risco (Bastos, R.;Ramalho, C.;Dória, 2014;Marqui, 2018;Oostingh et al, 2018). Malformações uterinas, assim como alguns tipos de miomas, impactam diretamente no desenvolvimento de uma gestação normal (Rodríguez et al, 2018).…”

Section: Revisão Teóricaunclassified

Perfil epidemiológico de abortamentos na região sudoeste de mato grosso - proposição de um novo fluxograma de atendimento

Dalbem

Teles

et al. 2020

RSD

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O aborto espontâneo é um importante problema de saúde pública, usualmente ocorre nas primeiras 12 semanas de gestação, e muitas vezes é subnotificado. No Brasil, atualmente não existe um fluxograma de atendimento das pacientes com diagnóstico de gestação inicial em abortamento preconizado pelo Ministério da Saúde. Reconhecer o perfil epidemiológico e caracterizar as pacientes com abortamento precoce, permite atuar na prevenção primária, direcionando recursos e otimizando a atenção básica. Objetivou-se analisar o perfil epidemiológico de pacientes com diagnóstico de abortamento espontâneo na região do Sudoeste de Mato Grosso entre janeiro de 2018 a julho de 2019, analisando as formas clínicas de abortamento precoce e sua prevalência. Foi realizado um estudo transversal com dados secundários de gestantes internadas por abortamento espontâneo, extraídos após aprovação do comitê de ética de prontuários e fichas clínicas e posteriormente transferidos para análise de dados no software SPSS. No total, 348 pacientes foram incluídas, a idade média foi de 29,36 anos, a etnia mais comum foi parda, 56% eram solteiras. A maior parte das pacientes não tinha informações descritas ou precisas no prontuário quanto a ocupação, escolaridade, realização de pré-natal e uso de medicamentos. Uma vez verificada a incompletude de informações e a importância dos dados, a sistematização de coleta de dados em prontuários das pacientes internadas com diagnóstico de abortamento precoce é de suma importância. A partir de uma intervenção efetiva no protocolo de atendimento dessas pacientes, será possível avaliar grupos de risco para desenvolvimento de desfechos desfavoráveis, o que possibilitará uma prevenção primária direcionada e precisa.

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“…The most frequent autosomal anomaly observed in specimens from spontaneous losses is trisomy 16 (thought to be lethal and incompatible with full fetal development), followed by other autosomal aneuploidies and X monosomy. 6 7 As fetal chromosomal abnormalities are largely responsible for the inefficiency of human reproduction and its associated burdens, it is necessary to perform laboratory investigations of the products of conception (POC) using different diagnostic techniques to help to understand the possible causes of miscarriage and to provide adequate assistance for future pregnancies. 8 9 10 …”

Section: Introductionmentioning

confidence: 99%

Frequency of Chromosomal Abnormalities in Products of Conception

Teles

Paula

Ramos³

et al. 2017

Rev Bras Ginecol Obstet

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Purpose To describe the frequencies of chromosomal abnormalities found in abortion material, and to observe its correlation to maternal age. Methods A retrospective study was conducted based on data obtained from the databank of a medical genetics laboratory in Belo Horizonte, MG, Brazil. A total of 884 results from products of conception analysis were included, 204 of which were analyzed by cytogenetics, and 680 by molecular biology based on quantitative fluorescence polymerase chain reaction (QF-PCR). The frequency of individual chromosomal aberrations and the relationship between the presence of anomalies and maternal age were also evaluated. Results The conventional cytogenetics technique was able to detect 52% of normal and 48% of abnormal results in the analyzed material. Quantitative fluorescence polymerase chain reaction revealed 60% of normal and 40% of abnormal results from the samples evaluated by this method. The presence of trisomy 15 was detected only by cytogenetics, as it was not included in the QF-PCR routine investigation in the laboratory. A significant increase in abnormal results was observed among women aged 35 years or older compared with younger women (p ¼ 0.02). Conclusion Chromosomal aberrations are still a major cause of spontaneous abortion, and the conventional cytogenetics technique is efficient for miscarriage material analysis, but molecular methods such as QF-PCR are adequate complementary strategies to detect the major chromosomal anomalies, leading to technical reports with reliable results.

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Estudo da Prevalência de Anomalias Cromossómicas em Abortamentos Espontâneos ou Mortes Fetais

Cited by 7 publications

References 29 publications

Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials

Polyploidy Phenomenon as a Cause of Early Miscarriages in Abortion Materials

Perfil epidemiológico de abortamentos na região sudoeste de mato grosso - proposição de um novo fluxograma de atendimento

Frequency of Chromosomal Abnormalities in Products of Conception

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