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Master Thesis

Diagnostic préimplantatoire et mutation FMR1 : quelles sont les chances d’obtenir un embryon sain en fonction du nombre d’ovocytes matures

Abstract : Introduction: fragile X syndrome is a disease linked to an expansion of CGG triplets of the FMR1 gene. Women with pre-mutation or complete mutation of the FMR1 gene are at risk of transmitting the genetic abnormality to their offspring often accompanied by an increase in triplet expansion. They may have recourse, if they wish, to a prenatal diagnosis or a pre-implantation genetic diagnosis (PGD). The main objective of this work is to define the probability of obtaining a healthy embryo to be transferred according to the number of mature oocytes obtained during stimulation for PGD. Material and methods : this retrospective study included all patients who had PGD for pre-mutation or complete FMR1 mutation in our center between 2006 and December 2018. 85 cycles for XFRA DPI were analyzed for 33 patients. For each stimulation cycle for DPI, a number of mature oocytes and healthy embryos obtained. Using this data, we created a VBA analysis to estimate the probability of obtaining at least one healthy embryo given the number of mature oocytes obtained at the puncture only. We then repeated the analysis according to the age of the patient (greater or less than 35 years old). Results: obtaining less than 3 mature oocytes almost makes it impossible to obtain a healthy embryo to be transferred regardless of the age of the patient. For patient over 35 years old, the analysis showed that with less than 6 mature oocytes the chances of getting a healthy embryo to transfer are very low. In addition, at over 35 years of age, there will never be more than a 50% chance of obtaining at least one healthy embryo regardless of the number of mature oocytes collected. The results were in favor of PGD on at least 13 mature oocytes collected fresh or cryopreserved. Thus, in our XFRA PF population of the Antoine Béclère Hospital, an average of fifteen mature oocytes were obtained and the patients were all less than 35 years old at the time of their preservation, so in theory, they had about a 70% chance of getting at least one healthy embryo. Conclusion: our results showed that FP for premutation FMR1 is feasible. This enables us to inform couples about the chances of obtaining a healthy embryo according to the number of mature eggs that can be used. This information will help couples to choose between DPN and DPI.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-03199379
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Submitted on : Thursday, April 15, 2021 - 3:40:32 PM
Last modification on : Saturday, September 4, 2021 - 3:26:07 AM

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  • HAL Id : dumas-03199379, version 1

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Méryl Sadoun. Diagnostic préimplantatoire et mutation FMR1 : quelles sont les chances d’obtenir un embryon sain en fonction du nombre d’ovocytes matures. Médecine humaine et pathologie. 2019. ⟨dumas-03199379⟩

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