Anne Mayeur1, Naouel Ahdad2, Laetitia Hesters1, Michael Grynberg3, Serge Romana4, Charlotte Sonigo5, Nelly Frydman6. 1. Reproductive Biology Unit, Paris-Sud University, Paris-Saclay University, Antoine Béclère Hospital, 157 rue de la Porte de Trivaux, Clamart 92140, France. 2. Department of Reproductive Medicine and Fertility Preservation, Hôpital Antoine Béclère, Hôpitaux Universitaires Paris Sud, Assistance Publique - Hôpitaux de Paris, Clamart 92140, France. Electronic address: naouel.yata@aphp.fr. 3. Department of Reproductive Medicine and Fertility Preservation, Hôpital Antoine Béclère, Hôpitaux Universitaires Paris Sud, Assistance Publique - Hôpitaux de Paris, Clamart 92140, France; Université Paris-Sud, Université Paris Saclay, Le Kremlin Bicêtre 94276, France; Inserm U1133 Université Paris Diderot, Paris 75013, France. 4. Necker Enfants Malades Hospital, Genetic Unit, AP-HP, Paris, France. 5. Department of Reproductive Medicine and Fertility Preservation, Hôpital Antoine Béclère, Hôpitaux Universitaires Paris Sud, Assistance Publique - Hôpitaux de Paris, Clamart 92140, France; Inserm U1185 Université Paris-Sud, Université Paris Saclay, Le Kremlin Bicêtre 94276, France. 6. Reproductive Biology Unit, Paris-Sud University, Paris-Saclay University, Antoine Béclère Hospital, 157 rue de la Porte de Trivaux, Clamart 92140, France; Université Paris-Sud, Université Paris Saclay, Le Kremlin Bicêtre 94276, France.
Abstract
RESEARCH QUESTION: Chromosomal translocations are known genetic causes of premature ovarian insufficiency syndrome. Are certain translocations associated with decreased capacity of small antral follicles to respond to exogenous FSH? Does the prognosis after preimplantation genetic testing for structural rearrangements differ in couples with female or male translocation carriers and according to the type of translocation? DESIGN: A single-centre, retrospective, observational study covering a 10-year period. One hundred and thirty-nine females carrying a translocation were compared with 192 partners of male translocation carriers. To evaluate ovarian response to FSH, the follicular output rate was used, defined by ratio between the pre-ovulatory follicle count on day of HCG x 100/antral follicle count (AFC). To determine a cut-off of metaphase II oocytes and biopsied embryos as predictor of obtaining a balanced embryo transfer, receiver operator characteristic curves were plotted. RESULT: A decreased capacity of small antral follicles to respond to exogenous FSH in female translocation carriers was found. The number of metaphase II oocytes in both groups was weakly informative as a predictor of obtaining an embryo transfer. The number of biopsied embryos had some clinical value, however, and allowed a cut-off of 6.5 to be determined for female translocation carriers versus 5.5 for the partners of male translocation carriers. Live birth rates, however, were not different between female and male translocations carriers. CONCLUSIONS: Female translocation carriers may respond poorly to ovarian stimulation, and present a higher rate of unbalanced embryos, which means that higher gonadotrophin doses may be required to increase the number of biopsied embryos.
RESEARCH QUESTION: Chromosomal translocations are known genetic causes of premature ovarian insufficiency syndrome. Are certain translocations associated with decreased capacity of small antral follicles to respond to exogenous FSH? Does the prognosis after preimplantation genetic testing for structural rearrangements differ in couples with female or male translocation carriers and according to the type of translocation? DESIGN: A single-centre, retrospective, observational study covering a 10-year period. One hundred and thirty-nine females carrying a translocation were compared with 192 partners of male translocation carriers. To evaluate ovarian response to FSH, the follicular output rate was used, defined by ratio between the pre-ovulatory follicle count on day of HCG x 100/antral follicle count (AFC). To determine a cut-off of metaphase II oocytes and biopsied embryos as predictor of obtaining a balanced embryo transfer, receiver operator characteristic curves were plotted. RESULT: A decreased capacity of small antral follicles to respond to exogenous FSH in female translocation carriers was found. The number of metaphase II oocytes in both groups was weakly informative as a predictor of obtaining an embryo transfer. The number of biopsied embryos had some clinical value, however, and allowed a cut-off of 6.5 to be determined for female translocation carriers versus 5.5 for the partners of male translocation carriers. Live birth rates, however, were not different between female and male translocations carriers. CONCLUSIONS: Female translocation carriers may respond poorly to ovarian stimulation, and present a higher rate of unbalanced embryos, which means that higher gonadotrophin doses may be required to increase the number of biopsied embryos.
Authors: Yulia V Shilenkova; Anna A Pendina; Irina D Mekina; Olga A Efimova; Evgeniia M Komarova; Elena A Lesik; Mariia A Ishchuk; Elena M Fedorova; Olga G Chiryaeva; Lubov' I Petrova; Vera S Dudkina; Olga E Talantova; Alexander M Gzgzyan; Igor Yu Kogan Journal: Genes (Basel) Date: 2020-12-25 Impact factor: 4.096
Authors: Chantal B Bartels; Reeva Makhijani; Prachi Godiwala; Alison Bartolucci; John C Nulsen; Daniel R Grow; Lawrence Engmann; Claudio A Benadiva Journal: F S Rep Date: 2020-09-25