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Updated: Jun 29, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Preimplantation aneuploid embryos undergo self-correction in correlation with their developmental potential
Shiri Barbash-Hazan1, Tsvia Frumkin1, Mira Malcov1
1Racine IVF Unit, Genetic Institute, Lis Maternity Hospital, Tel-Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Embryos can correct chromosomal abnormalities, especially trisomies, as they develop into blastocysts. This self-correction indicates preimplantation genetic screening (PGS) results should be interpreted cautiously.
Area of Science:
- Embryology
- Reproductive Medicine
- Genetics
Background:
- Preimplantation genetic screening (PGS) is used to assess embryo chromosomal health.
- Embryo aneuploidy and mosaicism are significant factors in implantation failure and miscarriage.
- The capacity for embryonic self-correction remains an area of active research.
Purpose of the Study:
- To investigate the incidence of embryonic self-correction during preimplantation development.
- To correlate self-correction with embryo developmental stage and specific chromosomal abnormalities.
- To evaluate the implications of self-correction for PGS interpretation.
Main Methods:
- Prospective study analyzing 83 aneuploid embryos from day 3 to day 5.
- Fluorescence in situ hybridization (FISH) reanalysis was performed.
- Embryo chromosomal status was compared between day 3 and day 5, correlated with developmental stage.
Main Results:
- 18.1% of day 3 aneuploid embryos showed mosaicism.
- 32.6% of embryos exhibited partial or complete chromosomal correction by day 5.
- 9.7% of aneuploid embryos fully self-corrected; trisomic embryos showed higher correction rates (41.0% trisomic rescue).
- Self-correction was significantly higher in embryos developing to blastocyst stage (38.1%) compared to cleaved embryos (12.5%).
Conclusions:
- Embryonic self-correction of aneuploidy and mosaicism is a significant developmental process, particularly towards the blastocyst stage.
- Trisomic embryos demonstrate a greater capacity for self-correction than other aneuploidies.
- These findings necessitate cautious interpretation of preimplantation genetic screening (PGS) results.
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