Unveiling the Genetic Secrets Behind Pregnancy Loss: A Revolutionary Tool and Its Impact
Pregnancy loss is a devastating experience, affecting up to 25% of all pregnancies. While many losses occur in the early stages, about half are caused by genetic or chromosomal issues, leaving many couples searching for answers. Recurrent pregnancy loss, defined as three or more losses, often remains a mystery, leaving those affected feeling frustrated and without resolution.
However, two groundbreaking studies presented at the Association for Molecular Pathology (AMP) 2025 Annual Meeting & Expo in Boston offer a glimmer of hope. These studies introduce a cutting-edge technique called optical genome mapping (OGM), which revolutionizes the way we understand and detect genetic abnormalities.
Optical genome mapping: Unlocking hidden causes
Researchers from Dartmouth–Hitchcock Medical Center embarked on a mission to explore the potential of OGM in identifying harmful chromosomal changes in patients with a family history or risk of recurrent pregnancy loss. By comparing OGM with traditional genetic testing methods like karyotyping and chromosomal microarray analysis, they uncovered a treasure trove of structural changes in the genome.
On average, the study revealed approximately 40 structural changes, with a focus on 238 genes linked to recurrent pregnancy loss (RPL). In two cases, four critical RPL-related genes, also associated with infertility, were directly impacted by these structural changes. Additionally, a hidden chromosome rearrangement disrupted other genes not typically associated with RPL. These findings highlight the power of OGM in revealing genetic changes that standard tests often overlook.
The authors emphasize that OGM, when combined with traditional genetic tests, can significantly enhance the diagnostic evaluation of recurrent pregnancy loss. This advancement empowers clinicians to gain a deeper understanding of potential genetic causes, offering hope and personalized care to those affected.
The study, led by Debopriya Chakraborty, Ph.D., a clinical postdoctoral fellow at Dartmouth Hitchcock Medical Center, was supervised by Wahab A. Khan, Ph.D., FACMG, and colleagues in the Clinical Genomics and Advanced Technology section at DHMC. Dr. Chakraborty’s presentation on her findings was scheduled for 9:15 a.m. on Friday, November 14, at the Thomas M. Menino Convention and Exhibition Center in Boston.
A rare fragile site linked to recurrent pregnancy loss
The connection between fragile sites, specific regions of chromosomes prone to breaks, gaps, or constrictions, and recurrent pregnancy loss has been a less-explored area. Researchers from Queens University’s Kingston Health Sciences Center and the University of Ottawa delved into this relationship, focusing on a 33-year-old patient with three consecutive early pregnancy losses.
Traditional chromosome testing revealed breaks at the rare fragile site FRA16B in about one-third of the patient’s cells. Using OGM, they discovered an unusually large repeated DNA segment at FRA16B, confirming the instability potentially linked to pregnancy loss. This finding suggests that fragile sites like FRA16B may be underappreciated contributors to reproductive issues, and incorporating OGM could help identify previously missed causes.
This research, supervised by Amira Othman, M.D., Ph.D., PGY-4 diagnostic and molecular pathology resident at Kingston Health Sciences Center, marks a significant step forward in understanding the role of fragile sites in recurrent pregnancy loss. By combining traditional cytogenetic testing with OGM, researchers can gain a clearer and more precise understanding of these complex genetic factors.
Source: Association for Molecular Pathology
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