High rates of aneuploidy, mosaicism and abnormal morphokinetic development in cases with low sperm concentration

J Assist Reprod Genet. 2020 Mar;37(3):629-640. doi: 10.1007/s10815-019-01673-w. Epub 2020 Jan 4.

Abstract

Purpose: The aim of our study was to evaluate the impact of severe male infertility (SMF) on the chromosomal status of embryos and any possible correlation between chromosomal status and embryo morphokinetics in younger women using data obtained from comprehensive preimplantation genetic tests.

Methods: The trial was conducted in an ART and Reproductive Genetics Centre between 2011 and 2018. A total of 326 cycles in cases with SMF where the female partner's age was ≤ 35 years were evaluated. SMF is defined as sperm concentration below 5 mil/ml (million per milliliter) and divided into three subgroups according to sperm concentrations: 1-5 mil/ml, < 1mil/ml and testicular sperm. The control group of 190 cycles had normal sperm parameters.

Results: Significantly lower chromosomal euploidy rates were found in the testicular sperm group compared with the normal sperm controls when the female age was ≤ 35 years. In SMF, statistically significantly affected chromosomes were 2, 10, 11, 17, 21 and sex chromosomes. The mosaicism and abnormal morphokinetic development rates were higher in the SMF group than in control group, and this difference was significant when testicular sperm was used.

Conclusion: Lower euploidy rates, higher mosaicism rates and a higher incidence of abnormal morphokinetic development were observed in cases with testicular sperm with female partners ≤ 35 years compared with normal sperm controls. These findings suggest that PGT-A may be advisable in severe male infertility cases. Furthermore, the correlation between morphokinetics and chromosomal status was greatly reduced or absent in these most severe forms of male infertility, thus the need for new morphokinetic models.

Keywords: Chromosomal status; Embryo morphokinetics; PGT-A; Severe male factor.

MeSH terms

  • Adult
  • Aneuploidy
  • Blastocyst / cytology
  • Embryonic Development / genetics
  • Female
  • Fertilization in Vitro
  • Humans
  • Infertility, Male / genetics*
  • Infertility, Male / pathology
  • Male
  • Mosaicism*
  • Pregnancy
  • Pregnancy Rate
  • Preimplantation Diagnosis*
  • Sperm Count
  • Sperm Injections, Intracytoplasmic / methods
  • Spermatozoa / pathology*
  • Testis / growth & development
  • Testis / pathology
  • Young Adult