Factors influencing mosaicism: a retrospective analysis

Area of Science:

• Reproductive Medicine
• Genetics
• Embryology

Background:

• Embryonic mosaicism, a condition where cells within an embryo have different chromosomal compositions, is a significant concern in assisted reproductive technology (ART).
• Understanding the factors contributing to mosaic embryo formation is crucial for improving ART outcomes and genetic testing accuracy.

Purpose of the Study:

• To investigate the independent factors associated with the incidence of mosaic embryos identified during preimplantation genetic testing for aneuploidies (PGT-A).

Main Methods:

• A retrospective analysis of PGT-A data from 544 couples was performed.
• Multivariable logistic regression was used to assess the association between various factors and embryonic mosaicism.

Main Results:

• The incidence of mosaic embryos was 6.6% (127 out of 1910).
• Mosaicism was significantly higher in embryos from in vitro fertilization (IVF) compared to intracytoplasmic sperm injection (ICSI) (OR 4.560).
• Abnormal semen quality (OR 3.496) and specific genetic testing platforms (SurePlex 24Sure vs. MALBAC-NGS and PicoPLEX GenetiSure) were also independently associated with mosaicism.

Conclusions:

• Semen quality, fertilization method (IVF vs. ICSI), and the choice of genetic detection system are independent predictors of embryonic mosaicism.
• These findings highlight the importance of considering these factors when interpreting PGT-A results and optimizing ART protocols.