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Rapid and minimally invasive preimplantation genetic testing for aneuploidies
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Rapid and minimally invasive preimplantation genetic testing for aneuploidies
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Journal Article
Rapid and minimally invasive preimplantation genetic testing for aneuploidies
2025
Overview
STUDY QUESTION: Can third-generation sequencing (TGS)-based polar body (PB) analysis serve as a viable alternative to conventional trophectoderm (TE) biopsy for preimplantation genetic testing for aneuploidy (PGT-A)? WHAT IS KNOWN ALREADY: TE biopsy, the current standard approach for PGT-A, is limited by embryonic mosaicism. Mosaicism potentially leads to false-positive aneuploidy diagnoses, resulting in the discard of genetically normal embryos and compromising the cumulative live birth rates (CLBRs). MAIN RESULTS AND THE ROLE OF CHANCE: The amplification success rate was 97.75% (87/89) for PB1 and 92.13% (82/89) for PB2, while the amplification success rate for PB1 + PB2 was 97.22% (35/36), comparable to that of TE-biopsied cells. The concordance rate of CNV results between NGS and TGS was 96.81%, with observed discrepancies primarily attributed to differences in the sizes of segmental imbalances and varying levels of intermediate copy numbers. However, when inferring oocyte ploidy status from PB analysis, the concordance rate with TE-biopsied CNV results (blastocyst formation rate 59.2%) was 75.68% (56/74). Among the 56 embryos with consistent results, the CNV profiles of 40 embryos were identical, while the remaining 16 were embryos with paternal meiotic or mitotic abnormalities. Our results demonstrated a higher euploidy rate with PB-based PGT-A (55.4%) compared to blastocyst-stage PGT-A (43.1%). Additionally, the euploidy rate in oocytes from AMA patients (>38years) was 40%, which was lower than that in younger patients ([less than or equal to]38years; 64%).
Publisher
Oxford University Press
Subject
