There is overwhelming evidence that mechanical signaling plays a crucial role in development of the ovary, follicle, and oocyte throughout gametogenesis. Emerging data suggest the complexities of mechanotransduction and the biomechanics of oocytes and follicles are integral to understanding of primary ovarian insufficiency, ovarian aging, polycystic ovary syndrome, and applications of fertility preservation.
Fibroids are present in up to 27% of patients seeking reproductive assistance, and can affect fertility through cavity distortion, alteration of endometrial receptivity, and sexual function. Surgical, noninvasive, and medical approaches have been developed to manage fibroids, but evidence-based data regarding their safety and efficacy for the treatment of infertility and the effects on pregnancy outcome are limited. Myomectomy, through minimally invasive techniques, is the most evidence-based approach to fibroids in women planning conception, and increases pregnancy rates by up to 68% in previously infertile patients. Laparoscopic uterine artery occlusion is under investigation as an alternative and simpler surgical approach to decrease fibroid size. Uterine artery embolization is not recommended for women intending future pregnancy, as the rate of spontaneous abortion (SAB) is up to 64% and the rate of abnormal placentation is 12.5%. Magnetic resonance imaging–guided focused ultrasound surgery is gaining interest as a noninvasive procedure with positive preliminary pregnancy outcomes, but appears to have an SAB rate of 20.6%. Selective progesterone receptor modulators, aromatase inhibitors, and vitamin D supplementation are under investigation to improve uterine conditions for pregnancy. Submucosal and intramural fibroids affect fertility and pregnancy outcomes and should be addressed during infertility workup.
Published research suggests that women who carry the FMR1 premutation (about 55 to 200 CGG) may have reduced success with IVF, e.g. fewer retrieved oocytes after ovulatory stimulation regimens. A meta-analysis has revealed no association within subcategories of normal repeat length (<45 CGG) and IVF pregnancy rates. ABSTRACTFMR1 CGG trinucleotide repeat expansions are associated with Fragile X syndrome (full mutations) and primary ovarian insufficiency (premutation range); the effect of FMR1 on the success of fertility treatment is unclear. The effect of FMR1 CGG repeat lengths on IVF outcomes after ovarian stimulation was reviewed. PubMed was searched for studies on IVF-related outcomes reported by FMR1 trinucleotide repeat length published between 2002 and December 2017. For women with CGG repeats in the normal (<45 CGG), intermediate range (45-54 CGG), or both, research supports a minimal effect on IVF outcomes, including pregnancy rates; although one study reported lower oocyte yields after IVF stimulation in women with lower CGG repeat lengths and normal ovarian reserve. Metaanalysis revealed no association within subcategories of normal repeat length (<45 CGG) and IVF pregnancy rates (summary OR 1.0, 95% CI 0.87 to 1.15). Premutation carriers (CGG 55-200) may have reduced success with IVF treatment (lower oocyte yield) than women with a normal CGG repeat length or a full mutation, although findings are inconsistent. Direct implications of the repeat length on inheritance and the risk of Fragile X syndrome have been observed. Patients may require clinical and psychological counselling, and further preimplantation genetic testing options should be considered. Thus, there are clinical and psychological counseling implications for patients and potential further patient decisions regarding preimplantation genetic testing options.
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