NCT03673592: NS-MOSAICISM

Clinical Value of Mosaicism Diagnosis on the Trophectoderm Biopsies

Completed Last updated 19 October 2020

What this trial tests

trial testing PGT-A in Aneuploidy in 783 participants. Completed in 20 May 2020.

Timeline

3 September 2018

Primary endpoint
31 December 2019

20 May 2020

Quick facts

Lead sponsor	Igenomix
Status	Completed
Study type	OBSERVATIONAL
Enrollment	783
Start date	3 September 2018
Primary completion	31 December 2019
Estimated completion	20 May 2020
Sites	3 locations across Italy

Drugs / interventions tested

• PGT-A

Conditions studied

• Aneuploidy — all drugs for Aneuploidy →
• Chromosome Abnormality — all drugs for Chromosome Abnormality →

Sponsor

Igenomix

Who can join

Adults 18 to 44, female only, with Aneuploidy or Chromosome Abnormality. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

Mosaicism within an embryo is defined as the presence of two or more cell populations with different genotypes. Blastocysts classified as mosaic by Preimplamtation Genetic Testing for Aneuploidy (PGT-A) have been reported to implant less and miscarry more frequently than embryos classified as euploid. Because of the unknown impact of mosaicism on embryo development, these embryos are given low priority and are discarded for transfer. However, recent papers on the transfer of human embryos classified by PGT-A as mosaic suggest that embryos with a low fraction of abnormal cells resulting in viable, chromosomally normal ongoing pregnancies, and high-level mosaics resulting in fewer viable pregnancies, but so far none producing mosaic babies.

The apparent presence of mosaicism in an embryo is used as a selection criteria for embryo transfer (ET), introducing a strong bias in terms of patient prognosis and embryo quality. Additionally, it is also possible that some embryos are incorrectly classified as "mosaic" due to technical variability derived from the processing of a uniform aneuploid embryo.

The aims of this study is to provide evidences about the clinical significance of chromosomal mosaicism in PGT-A cycles by a prospective non-selection based methodology.

Publications & conference data

2 peer-reviewed publications reference this trial (live from Europe PMC):

1. Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial.
   Capalbo A, Poli M, Rienzi L, Girardi L, et al · · 2021 · cited 207× · PMID 34798051 · DOI 10.1016/j.ajhg.2021.11.002
2. A prospective double-blinded non-selection trial of reproductive outcomes and chromosomal normalcy of newborns derived from putative low/moderate-degree mosaic IVF embryos
   Capalbo A, Poli M, Rienzi L, Girardi L, et al · · 2021 · cited 1× · DOI 10.1101/2021.02.07.21251201