Expanding the role of chromosomal microarray analysis in the evaluation of recurrent pregnancy loss

Recurrent pregnancy loss (RPL) affects up to 3% of reproductive age couples (Van Dijk et al., 2020). RPL is a stressor that negatively affects the psychological wellbeing of patients. Multiple causative factors contribute to RPL. Genetic abnormalities of the fetus, especially aneuploidy, are one of the main causes of RPL and are associated with advancing female age (Sauer, 2015). However, when following the American Society for Reproductive Medicine (ASRM) guidelines, over 50% of cases will have a non-identifiable cause for recurrent losses which further contributes to stress and motivates patients to pursue non-evidence based therapy (Papas and Kutteh, 2020). Thus, it is critical to thoroughly evaluate RPL against current evidence-based guidelines to discover novel ways to improve assessment.

In this article, we review the various definitions and criteria of RPL. Moreover, we summarize evidence-based societal guidelines for RPL evaluation, including immunological testing. We also highlight an innovative algorithm for RPL evaluation that involves the implementation of 24-chromosomal microarray analysis (CMA). Based on data from our institution and other centers, CMA testing on products of conception (POC) adds an explanation for the loss in many RPL patients, offering psychological benefit to couples affected by this distressing condition (Papas and Kutteh, 2020).

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