Research Methods Poster Session 2024
 
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Description

Investigating genetic abnormalities in recurrent pregnancy loss (RPL) is critical due to the large number of unexplained cases, which account for around 50%. While routine karyotyping of products of conception (POC) is widely employed, its efficacy is limited by a high failure rate in cytogenetics laboratories. Thus, Chromosomal Microarray Analysis (CMA) offers a potential option, with a success rate of more than 90% when karyotyping fails. Unlike karyotyping, CMA allows a full genome investigation without the requirement for live cultures, allowing the discovery of a variety of genetic abnormalities linked to pregnancy loss, including copy number variations, deletions, duplications, and aneuploidy. These abnormalities are prevalent, representing 47.4% of first-trimester losses and 10.9% of second and third-trimester losses. Therefore, this study seeks to increase diagnostic accuracy and identify genetic variables contributing to RPL by evaluating the efficacy of combining CMA and karyotyping. This meta-narrative review serves to evaluate this combined approach as an improved method for developing individualized treatment programs and providing support to afflicted individuals and couples.

DOI

https://doi.org/10.52519/00124

Program

Cytogenetic Technology

Publication Date

4-14-2024

Keywords

Cytogenetics

Evaluating the Integration of Chromosomal Microarray Analysis with Karyotyping for Improved Detection of Chromosomal Abnormalities in Recurrent Pregnancy Loss: A Meta-Narrative Review

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