Separate studies led by scientists at Dartmouth Hitchcock Medical Center (DHMC) and Queens University have unveiled significant insights into the genetic underpinnings of recurrent pregnancy loss, with findings presented at the annual Association for Molecular Pathology (AMP) meeting in Boston, MA from November 11-15. Recurrent pregnancy loss, defined as three or more consecutive losses, affects a substantial number of women, with genetic factors implicated in nearly half of these cases.
Utilizing advanced optical genome mapping (OGM) technology, researchers are uncovering chromosomal abnormalities that traditional genetic testing methods often overlook. In the DHMC study, led by Debopriya Chakraborty, PhD, the team identified an average of 40 structural changes in the genomes of patients with a history of recurrent loss. Notably, they linked these changes to critical genes associated with both recurrent pregnancy loss and infertility, highlighting the potential of OGM to reveal previously undetected genetic issues.
Meanwhile, the Queens University study, spearheaded by Amira Othman, MD, PhD, examined fragile chromosome sites that are prone to instability. Analyzing a patient with three early pregnancy losses, they identified a significant DNA segment at a fragile site, suggesting a direct correlation between genomic instability and pregnancy outcomes. These findings underscore the promise of OGM in enhancing our understanding of reproductive genetics and improving diagnostic accuracy in cases of recurrent pregnancy loss.
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