The ovarian response in fragile X patients and premutation carriers undergoing IVF-PGD: reappraisal
| Autor: | Amit Sokolov, Adi Reches, Sarit Avraham, Benny Almog, Liat Zakar, Foad Azem, Mira Malcov, Sharon Alpern |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Adult Ovulation medicine.medical_specialty Heterozygote Oocyte Retrieval Genetic Counseling Controlled ovarian hyperstimulation Fertilization in Vitro Biology Primary Ovarian Insufficiency Cohort Studies Tertiary Care Centers 03 medical and health sciences 0302 clinical medicine Ovulation Induction Trinucleotide Repeats Biopsy medicine Humans Fertility preservation Ovarian follicle Ovarian reserve Ovarian Reserve Referral and Consultation Preimplantation Diagnosis Retrospective Studies Gynecology 030219 obstetrics & reproductive medicine medicine.diagnostic_test Rehabilitation Ovary Obstetrics and Gynecology Retrospective cohort study Fertility Agents Female medicine.disease FMR1 Fragile X syndrome 030104 developmental biology medicine.anatomical_structure Reproductive Medicine Fragile X Syndrome Mutation Female Infertility Female Gonadotropins |
| Zdroj: | Human reproduction (Oxford, England). 32(7) |
| ISSN: | 1460-2350 |
| Popis: | Study question What is the association between the ovarian response and the number of CGG repeats among full mutation and premutation carriers of fragile X (FMR1), undergoing controlled ovarian hyperstimulation (COH) for PGD? Summary answer Ovarian response was normal in full mutation patients but decreased in premutation carriers, although the number of repeats was not statistically significantly associated with the number of oocytes retrieved. What is known already There is inconsistent data in the literature regarding ovarian response in FMR1 carriers. Studies exploring the ovarian response of full mutation patients are lacking. Study design, size, duration Retrospective study, a university affiliated tertiary hospital, IVF unit, PGD referral center. Participants/materials, setting, methods We examined the medical records of all women undergoing fresh IVF-PGD cycles due to fragile X. Data recorded included demography, duration of stimulation, amount of gonadotropins administered, number of dominant follicles, maximal E2 levels and number of oocytes retrieved. Data were analyzed using univariate and multivariate mixed models. P-values Main results and the role of chance Premutation carriers displayed reduced ovarian response, as demonstrated by fewer oocytes retrieved. In contrast, full mutation patients had a normal response. Comparison of premutation carriers and full mutation patients showed: mean oocytes retrieved per cycle (8.4 ± 1.1 versus 14.1 ± 1.7, P = 0.005), lower levels of estradiol (E2; 1756 ± 177, versus 2928 ± 263, P = 0.0004), respectively. There was no significant difference between premutation carriers and full mutation patients in regard to fertilization rate, cleavage rate or biopsy rate. No correlation was found between the number of repeats in the premutation carriers and the number of oocytes retrieved or E2 levels. Age and the type of protocol were the only factors found to be in correlation with the number of the oocyte retrieved (P = 0.037, and P = 0.003, respectively) among the premutation carriers. Similarly, no association was found between the number of repeats and the fertilization rate, cleavage rate or biopsy rate among premutation carriers. Limitations, reasons for caution We had a relatively low number of premutation carriers with >100 repeats, which made it challenging to draw a firm conclusions from this group. Wider implications of the findings Physicians must address the increased risk for reduced ovarian response and primary ovarian insufficiency (POI) among carriers and consider surveillance of ovarian reserve markers. The last, might expedite family plans completion or fertility preservation. Study funding/competing interest(s) None. |
| Databáze: | OpenAIRE |
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