Are ovarian response and pregnancy rates similar in selected FMR1 premutated and mutated patients undergoing preimplanta
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ASSISTED REPRODUCTION TECHNOLOGIES
Are ovarian response and pregnancy rates similar in selected FMR1 premutated and mutated patients undergoing preimplantation genetic testing? Noemie Ranisavljevic 1 & Mathilde Hess 1 & Christel Castelli 2,3 & Marjolene Willems 4 & Alice Ferrieres-Hoa 5 & Anne Girardet 6 & Tal Anahory 1 Received: 15 January 2020 / Accepted: 1 May 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract Purpose To assess if the ovarian response of FMR1 premutated women undergoing preimplantation genetic testing (PGT) for Fragile X syndrome is lower compared with fully mutated patients, due to their frequent premature ovarian failure. Methods In a retrospective cohort study from January 2009 to March 2019, we compared PGT outcomes in 18 FMR1 premutated women and 12 fully mutated women and aimed to identify predictive factors of stimulation outcomes. Results Eighty-six IVF/PGT-M cycles for FMR1 PGT were analyzed. Premutation and full mutation patients were comparable in terms of age, body mass index (BMI), basal FSH, antral follicular count, and cycle length. However, premutation carriers had significantly lower AMH (1.9 versus 4.0 ng/mL, p = 0.0167). Premutated patients required higher doses of FSH (2740 versus 1944 IU, p = 0.0069) but had similar numbers of metaphase II oocytes (7.1 versus 6.6, p = 0.871) and embryos (5.6 versus 4.9, p = 0. 554). Pregnancy rates (37.1% versus 13.3%, p = 0.1076) were not statistically different in both groups. Conclusion In spite of lower ovarian reserve and thanks to an increased total dose of FSH, FMR1 premutated selected patients seem to have similar ovarian response as fully mutated patients. Neither the number of CGG repeats in FMR1 gene nor FMR1 mutation status was good predictors of the number of retrieved oocytes. Keywords Fragile X syndrome . Ovarian reserve . Ovarian stimulation . IVF . Preimplantation genetic testing
Introduction
* Noemie Ranisavljevic [email protected] 1
Department of Reproductive Medicine - Gynecology, CHU and University of Montpellier, Montpellier, France
2
UPRES EA 2415, Laboratory of Biostatistics, Epidemiology, Clinical Research and Health Economics, Clinical Research University Institute, Montpellier University, Montpellier, France
3
Department of clinical Research, Beausoleil Clinic, Montpellier, France
4
Department of Medical Genetics, CHU and University of Montpellier, Montpellier, France
5
Department of Reproductive Medicine - Biology, CHU and University of Montpellier, Montpellier, France
6
Laboratory of Molecular Genetics, CHU and University of Montpellier, Montpellier, France
Fragile X syndrome (FRAX) is the most common cause of inherited mental retardation, affecting about 1 in 4000 males and 1 in 8000 females [1]. In 1969, Herbert Lubs first observed a “marker X chromosome” with a secondary constriction near the end of the long arm—an apparently “broken” chromosome—in some mentally retarded males and their relatives [2]. A few decades later, the gene involved in the
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