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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Morphokinetic parameters in chromosomal translocation carriers undergoing preimplantation genetic testing
Jenna Lammers1, Arnaud Reignier2, Carole Splingart1
1Service de Médecine de la Reproduction, CHU Nantes, 38 boulevard Jean Monnet, Nantes Cedex 44093, France; Centre de Recherche en Transplantation et Immunologie UMR 1064, INSERM, Université de Nantes, Nantes, France.
Embryo morphokinetics did not reliably identify unbalanced embryos in translocation carriers. Time-lapse imaging is not a diagnostic tool for embryo chromosomal status in these patients.
Area of Science:
- Reproductive Medicine
- Genetics
- Embryology
Background:
- Translocation carriers face challenges in achieving successful pregnancies due to the risk of unbalanced embryos.
- Preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) is crucial for these patients.
- Identifying unbalanced embryos non-invasively could improve PGT-SR outcomes.
Purpose of the Study:
- To investigate if embryo morphokinetic parameters derived from time-lapse imaging can distinguish between balanced and unbalanced embryos in translocation carriers undergoing PGT-SR.
- To assess the predictive performance of existing aneuploidy models in this specific patient population.
Main Methods:
- Retrospective analysis of 105 PGT-SR cycles in 67 translocation carriers without concurrent PGT-A.
- Comparison of morphokinetic parameters and abnormal cellular events between balanced and unbalanced embryos using time-lapse imaging.
- Evaluation of a previously published aneuploidy prediction model.
Main Results:
- While some morphokinetic parameters (t5, t9+, cc2, s2, t5-t2) and cellular events (multinucleation, abnormal division, cell exclusion) showed significant differences between balanced and unbalanced embryos, they lacked predictive accuracy.
- A previously validated morphokinetic prediction model for aneuploidy did not effectively classify embryos in this cohort.
- No morphokinetic parameter reliably identified the chromosomal status of embryos in translocation carriers.
Conclusions:
- Embryo morphokinetics and time-lapse imaging are not suitable diagnostic tools for determining chromosomal status in embryos from translocation carriers.
- Current morphokinetic parameters cannot reliably differentiate balanced from unbalanced embryos in this population, necessitating continued reliance on genetic testing.
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