Factors influencing mosaicism: a retrospective analysis

Reprod Biomed Online. 2022 Sep;45(3):491-500. doi: 10.1016/j.rbmo.2022.04.020. Epub 2022 May 6.

Abstract

Research question: What factors affect the incidence of mosaic embryos resulting from assisted reproductive technology?

Design: A retrospective analysis of data from preimplantation genetic testing for aneuploidies in 544 couples was conducted using data from an electronic medical record database.

Results: Of 1910 embryos studied, 127 (6.6%) were mosaic. In multivariable logistic regression analysis, mosaicism incidence increased in embryos from IVF versus intracytoplasmic sperm injection (ICSI) (odds ratio [OR] 4.560, 95% confidence interval [CI] 2.800-7.424, P < 0.001), and in embryos from abnormal versus normal semen (OR 3.496, 95% CI 2.455-4.979, P < 0.001). Embryos tested using SurePlex 24Sure had lower mosaicism percentages than those tested using MALBAC-NGS and PicoPLEX GenetiSure (OR 2.726, 95% CI 1.532-4.852, P = 0.001; OR 2.389, 95% CI 1.537-3.711, P < 0.001, respectively).

Conclusions: Semen quality, fertilization method and detection system are independent factors associated with embryonic mosaicism.

Keywords: ART; Fertilization method; Mosaicism; PGT-A; Preimplantation genetic testing for aneuploidies; Semen quality.

MeSH terms

  • Aneuploidy
  • Blastocyst
  • Female
  • Fertilization in Vitro
  • Genetic Testing / methods
  • Humans
  • Male
  • Mosaicism*
  • Pregnancy
  • Preimplantation Diagnosis* / methods
  • Retrospective Studies
  • Semen
  • Semen Analysis