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Whole Genome Sequencing (WGS) on IVF Embryos and Individual Patients

NCT05739890 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2023-09-25

No results posted yet for this study

Summary

This research project aims to utilise recent advances in whole genome sequencing of preimplantation genetic diagnosis embryos to investigate the impact of paternal age on de novo mutation rates in IVF embryos. Embryos that are deemed unsuitable for transfer following preimplantation genetic testing for monogenic/single gene disorders (PGT-M) due to the detection of genetic abnormalities will be utilized for this study. These embryos will undergo re-biopsy, and both the biopsied samples as well as the remaining embryo tissue will be subject to whole genome sequencing. This will allow the assessment of de novo mutation rates based on the paternal age.

Conditions

  • Fertility Issues
  • Single-Gene Defects

Interventions

OTHER

Embryo genome sequencing

This project proposes the testing of a cohort of research embryos to establish the key parameters for amplified trophectoderm biopsied embryos using minimum depth required for genome sequencing (\>depth of 30x per base).The remaining embryo tissue will be whole genome sequenced to validate the results of the biopsy.

OTHER

Parents genome sequencing

Analysis will be performed using trio testing of each embryo in addition to the DNA from the genetic parent to facilitate the derivation of de novo mutation rate.

Sponsors & Collaborators

  • GenEmbryomics Pty. Ltd

    lead INDUSTRY

Principal Investigators

  • Nicholas Murphy, PhD · GenEmbryomics Pty. Ltd

Eligibility

Min Age
18 Years
Max Age
48 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-06-01
Primary Completion
2024-03-31
Completion
2024-08-31

Countries

  • United States
  • Turkey (Türkiye)

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05739890 on ClinicalTrials.gov