DFI and Aneuploidies

Evaluation of the Association Between the DNA Fragmentation Index (DFI) and the Frequency of Segmental and Total Aneuploidies

IVF is the most commonly employed form of assisted reproductive technologies (ART) for the 10-15% of couples who face difficulties becoming pregnant. Many individuals elect to have their IVF-derived embryos analyzed using pregenetic implantation testing for aneuploidies (PGT-A). The use of PGT-A is particularly beneficial for patients at higher risk for aneuploidy, such as those of advanced maternal age and those faced with recurrent pregnancy loss or recurrent implantation failure.

Segmental aneuploidies are generated when a small piece of a chromosome is gained or lost during cell division, resulting in subchromosomal copy number (CN) changes. The frequency of segmental aneuploidies during the cleavage stage varies between studies, from as low as 3.9% to 15% and up to 70 % with no reported correlation with maternal age. This can be explained by the fact that, unlike whole chromosome aneuploidies, segmental aneuploidies most often involve paternally inherited chromosomes.

Study Overview

• Status: Completed
• Conditions: Embryo Disorder
• Intervention / Treatment: Other: Preimplantation Genetic Testing for Aneuploidy

• Study Type: Observational
• Enrollment (Actual): 537

Contacts and Locations

Study Locations

• Canada
  • Quebec
    • Montreal, Quebec, Canada, H4P 2S4
      • Clinique ovo

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult
• Accepts Healthy Volunteers: N/A

• Sampling Method: Probability Sample

Study Population

Data spreadsheet from October 2020 to December 2023 consisting of more than 800 medical charts.

Description

Inclusion Criteria:

• IVF cycle completed at clinique ovo
• Maternal age between 18 to 43 years included
• PGT-A done on all embryos
• Recent DFI within 1 year of the IVF cycle

Exclusion Criteria:

• Sperm donation

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
DFI association and aneuploidy	Segmental aneuploidy is associated with high levels of sperm DNA fragmentation index	Up to 3 weeks after embryo fertilization

Collaborators and Investigators

• Sponsor: Clinique Ovo
• Investigators: Principal Investigator: Isaac-Jacques Kadoch, MD, Clinique ovo

Study record dates

Study Major Dates

• Study Start (Actual): January 19, 2024
• Primary Completion (Actual): November 14, 2024
• Study Completion (Actual): November 14, 2024

Study Registration Dates

• First Submitted: February 16, 2024
• First Submitted That Met QC Criteria: February 22, 2024
• First Posted (Actual): February 28, 2024

Study Record Updates

• Last Update Posted (Actual): July 31, 2025
• Last Update Submitted That Met QC Criteria: July 29, 2025
• Last Verified: February 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Chromosome Aberrations; Aneuploidy
• Other Study ID Numbers: 3437

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No