Chromosomal abnormalities in recurrent miscarriages by conventional karyotyping analysis

Marqui, Alessandra Bernadete Trovó de

doi:10.1590/1806-93042018000200002

Cited by 7 publications

(5 citation statements)

References 49 publications

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“…In a review article by Marqui (2018) , the percentage of chromosomal abnormalities in couples with recurrent miscarriages varied from 1.23% to 12.0%. He claimed that in almost 70.0% of the studies, chromosomal abnormalities were above 50%.…”

Section: Discussionmentioning

confidence: 99%

Cross-sectional study of chromosomal aberrations and immunologic factors in Iraqi couples with recurrent pregnancy loss

Khamees¹,

Al-Ouqaili²

2022

PeerJ

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Background Parental chromosomal aberrations are important causes of recurrent pregnancy loss (RPL). Some immunological factors such as antiphospholipid antibodies and interleukin-6 (IL-6) also contribute to this complication. The aim of this study was to determine the frequency of chromosomal abnormalities and to evaluate some of the immunological factors in couples with RPL from different cities in Iraq. Methods This study was conducted on 25 couples (50 individuals) who had more than two first trimester abortions in the past and 25 healthy females as controls. Karyotyping was performed on peripheral blood of all participants. Anticardiolipin (IgG and IgM), antiphosopholipid (IgG and IgM), lupus anticoagulant, and IL-6 were assayed. Data were analyzed using appropriate statistical tests. Results Chromosomal abnormalities were found in 28.0% (n = 7/25) of RPL couples. Of these five (10.0%) were female and two (4.0%) were male. The types of structural abnormalities were as follows: 45, XX, t(21; 21); 45, XX, rob (14, 15); 46, XX, add (21) (p13); 46 XY, add (21)(p13); 46, XX, 21ps+; 46, XY, per inv (9) (p11q12) and 45, XX, t(13q, 13q). No chromosomal abnormalities were found in the control group. Also, no significant differences were found in the immunological parameters of the couples with RPL and the control group. Conclusion In this study, karyotyping revealed a high number of chromosomal abnormalities associated with the RPL in Iraqi couples. Since identification of genetic causes of miscarriage is important for genetic counseling and educating couples about the risk of future pregnancies, it is recommended that conventional karyotyping be investigated in patients with RPL.

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Section: Discussionmentioning

confidence: 99%

Cross-sectional study of chromosomal aberrations and immunologic factors in Iraqi couples with recurrent pregnancy loss

Khamees¹,

Al-Ouqaili²

2022

PeerJ

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“…alterations are classified numerically (of the most common incidence) and structural. Both can affect one or more autosomal or sex chromosomes and represent one of the leading causes of miscarriages 1 .…”

Section: Chromosomalmentioning

confidence: 99%

Frequency of chromosomal syndromes in the Brazilian population between 2017 and 2021

Santos¹,

Portilho²,

Moreira-Nunes³

2022

Rev Cienc Saude

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Objective: To evaluate the frequency of chromosomal syndromes in the Brazilian population between 2017 and 2021. Methods: This is an active search of open access databases of the Information System on Live Births (SINASC) from the Brazilian Ministry of Health from 2017 to 2021. For statistical analysis, Analysis of Variance (One-way ANOVA) was followed by the Bonferroni post-test, considering a significant level of p < 0,05. The chi-square test was used for correlation analysis. Results: The underreporting of congenital anomalies in Brazil has decreased over the last few years, showing significant values; however, those numbers varied between regions. The chromosomal syndromes with the highest incidence were Down Syndrome (76.15%), Edwards and Patau Syndromes (14.59%) grouped in the same ICD-10, with the South and Southeast regions, with an average frequency of 0.07%, as the leader in notifications. The maternal variables with a higher incidence of chromosomal syndromes were women over 35 years of age, with 8 to 11 years of schooling, and married. Conclusion: There was a decrease in the value related to underreporting over the years. The data show a disparity in the notification of chromosomal syndromes between regions and outline the maternal profile of a higher incidence of chromosomal syndromes.

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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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Chromosomal abnormalities in recurrent miscarriages by conventional karyotyping analysis

Cited by 7 publications

References 49 publications

Cross-sectional study of chromosomal aberrations and immunologic factors in Iraqi couples with recurrent pregnancy loss

Cross-sectional study of chromosomal aberrations and immunologic factors in Iraqi couples with recurrent pregnancy loss

Frequency of chromosomal syndromes in the Brazilian population between 2017 and 2021

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

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