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Genetic Analysis of Early and Recurrent Pregnancy Loss: Challenges and Advances
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Pregnancy loss is defined as the spontaneous termination of a pregnancy before fetal viability and affects approximately one in four pregnancies. Genetic analysis of early or recurrent fetal losses is crucial for elucidating the underlying causes of miscarriage, thereby guiding clinical management and providing prognostic information to affected couples. Genetic anomalies, particularly chromosomal abnormalities, are implicated in approximately 50% to 70% of spontaneous abortions in the first trimester. Identifying these anomalies aids in understanding the etiology of pregnancy loss and offers valuable insights for future reproductive planning.
Various sample types and genetic testing methodologies are employed in this context, each with distinct advantages and limitations. Traditional cytogenetic analysis, such as karyotyping, requires viable fetal cells obtained through culture. However, this method has a success rate of only about 58% due to potential culture failures and maternal cell contamination, which can lead to inconclusive or misleading results. In contrast, molecular techniques like chromosomal microarray analysis (CMA) do not rely on cell culture, offering higher resolution in detecting chromosomal abnormalities, improving diagnostic yield, and reducing the incidence of inconclusive results. However, CMA requires a sufficient amount of fetal DNA, which may be difficult to obtain due to maternal contamination or the challenge of collecting the conceptus product.
The use of cell-free fetal DNA (cffDNA) from maternal blood has emerged as a promising method for evaluating fetal ploidy status, although large-scale validation of this approach is still required.
In this study, we present our laboratory's experience in analyzing different sample types and employing various methodologies to investigate pregnancy loss. Our findings contribute to the ongoing discussion on optimizing genetic diagnostic strategies for early and recurrent pregnancy loss, improving patient outcomes, and informing future research directions.
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Palavras-chave
Cytogenetic Pregnancy Loss Cell-Free Fetal DNA (cffDNA) Doenças Genéticas