Chromosomal segregation analysis and HOST-based sperm selection in a complex reciprocal translocation carrier

Area of Science:

• Human Genetics
• Reproductive Medicine

Background:

• Complex chromosomal rearrangements (CCRs) involve multiple chromosomal aberrations, leading to a high incidence of unbalanced gametes.
• Preimplantation genetic diagnosis (PGD) offers limited success for CCR carriers due to the prevalence of unbalanced embryos.

Observation:

• A 36-year-old male carrying a t(4;7;14) CCR presented with infertility.
• Initial analysis revealed 88% unbalanced spermatozoa (US) in the patient.
• Sperm selection via hypo-osmotic swelling test (HOST) and specific flagellar conformation reduced US to 15%.

Findings:

• The HOST procedure effectively reduced the proportion of unbalanced spermatozoa in a CCR carrier.
• This sperm selection technique demonstrated a significant decrease in US from 88% to 15%.

Implications:

• Sperm selection prior to in vitro fertilization (IVF) is feasible for male CCR carriers.
• This approach holds potential for increasing euploid embryo rates and improving pregnancy outcomes.