To identify predictors of de novo aneuploidy in patients undergoing preimplantation genetic testing for structural chromosome rearrangements (PGT-SR), aneuploidy (PGT-A), and monogenic disorders (PGT-M), highlighting the significance of these predictors in clinical settings.
Key Findings:
Incidence of de novo aneuploidy was 19.5% (PGT-SR), 32.1% (PGT-A), and 31.2% (PGT-M).
Advanced maternal age and blastocyst expansion degree were significant predictors in the PGT-SR cohort.
In the PGT-A cohort, significant associations were found for maternal age, AMH, PGT indication, expansion degree, ICM grade, and TE grade.
In the PGT-M cohort, TE grade was significantly associated with aneuploidy in women aged ≥ 30 years.
No independent effects were found for semen parameters or stimulation protocols.
Whole-chromosome aneuploidies most frequently involved chromosomes 22, 16, and 21.
Interpretation:
Advanced maternal age (≥35 years) is a robust predictor of de novo aneuploidy, with blastocyst expansion degree and TE grade also showing significant associations, suggesting a need for tailored clinical approaches.
Limitations:
The study is retrospective and may be subject to biases inherent in such designs, including selection bias.
Findings may not be generalizable to all populations undergoing PGT.
Conclusion:
The study supports individualized risk assessment and embryo selection in distinct PGT patient cohorts, emphasizing the potential for improved patient outcomes.
