FMR1 Genotype with Autoimmunity-Associated Polycystic Ovary-Like Phenotype and Decreased Pregnancy Chance

The FMR1 gene partially appears to control ovarian reserve, with a specific ovarian sub-genotype statistically associated with a polycystic ovary (PCO)- like phenotype. Some forms of PCO have been associated with autoimmunity. We, therefore, investigated in multiple regression analyses associations of ovary-specific FMR1 genotypes with autoimmunity and pregnancy chances (with in vitro fertilization, IVF) in 339 consecutive infertile women (455 IVF cycles), 75 with PCO-like phenotype, adjusted for age, race/ethnicity, medication dosage and number of oocytes retrieved. Patients included 183 (54.0%) with normal (norm) and 156 (46%) with heterozygous (het) FMR1 genotypes; 133 (39.2%) demonstrated laboratory evidence of autoimmunity: 51.1% of het-norm/low, 38.3% of norm and 24.2% het-norm/high genotype and sub-genotypes demonstrated autoimmunity (p = 0.003). Prevalence of autoimmunity increased further in PCO-like phenotype patients with het-norm/low genotype (83.3%), remained unchanged with norm (34.0%) and decreased in het-norm/high women (10.0%; P<0.0001). Pregnancy rates were significantly higher with norm (38.6%) than het-norm/low (22.2%, p = 0.001). FMR1 sub-genotype het-norm/low is strongly associated with autoimmunity and decreased pregnancy chances in IVF, reaffirming the importance of the distal long arm of the X chromosome (FMR1 maps at Xq27.3) for autoimmunity, ovarian function and, likely, pregnancy chance with IVF

Association Between Endometriosis and Preterm Birth in Women With Spontaneous Conception or Using Assisted Reproductive Technology: A Systematic Review and Meta-Analysis of Cohort Studies

El texto completo de este trabajo no está disponible en el Repositorio Académico UPC por restricciones de la casa editorial donde ha sido publicado.OBJECTIVE: To perform a systematic review and meta-analysis to estimate the effect of endometriosis on preterm birth (PB) risk. METHODS: Searches were conducted in PubMed-MEDLINE, Embase, Scopus, Web of Science, Cochrane Library, Google Scholar, and SciELO for studies published in all languages from inception through April 2017. We included cohort studies evaluating pregnant women with and without endometriosis and conception either by spontaneous conception (SC) or with assisted reproductive technology (ART). Primary outcome was PB (<37 weeks), and secondary outcomes were intrauterine growth restriction (IUGR), low birthweight, small for gestational age (SGA), and birthweight. Pooled odds ratios (ORs) and its 95% confidence interval (CI) were calculated as effects, and random-effects models were used for meta-analyses. Risk of bias was assessed with the Newcastle-Ottawa Scale, and heterogeneity of effects among studies was described with the I2 statistic. RESULTS: We identified 9 cohort studies including a total of 1 496 715 pregnancies (13 798 with endometriosis diagnosis). In women with endometriosis, the PB risk was significantly increased in both SC (OR: 1.59; 95% CI: 1.32-1.90) and ART (OR: 1.43; 95% CI: 1.14-1.79). The SGA risk was increased in women with endometriosis (OR: 1.16; 95% CI: 1.05-1.28), while the IUGR and low birthweight risks and birthweight were not affected by endometriosis. CONCLUSION: Endometriosis is associated with increased PB risk in both SC and women who obtained pregnancy using ART. Prospective studies evaluating relevant outcomes are needed to confirm these results.Revisión por pare

The impact of endometriosis on the outcome of Assisted Reproductive Technology

BACKGROUND: Endometriosis has been described to impair fertility through various mechanisms. However, studies evaluating the reproductive outcomes of women undergoing assisted reproductive technologies show controversial results. The aim of this study is to assess whether the reproductive outcome is impaired among women with endometriosis-associated infertility undergoing IVF. METHODS: A retrospective cohort study was performed, including women undergoing IVF reported by the Red Latinoamericana de Reproduccion Asistida (Redlara) registry, between January 2010 and December 2012. The study group included women with endometriosis-associated infertility, and the control group women with tubal factor, endocrine disorders or unexplained infertility. Women above 40 years, severe male factor and premature ovarian failure were excluded. The reproductive outcomes of between both groups were compared. The primary outcome was live birth. Secondary outcomes included clinical pregnancy, miscarriage, number of oocytes retrieved and number of fertilized oocytes. Outcomes were assessed after the first fresh IVF cycle, and were adjusted for age and number of embryos transferred. RESULTS: A total of 22.416 women were included (3.583 with endometriosis and 18.833 in the control group). Mean age of patients in the endometriosis group and control group was 34.86 (3.47) and 34.61 (3.91) respectively, p = 0.000. The mean number of oocytes retrieved were 8.89 (6.23) and 9.86 (7.02) respectively, p = 0.000. No significant differences were observed between groups in terms of live birth (odds ratio (OR) 1.032, p = 0.556), clinical pregnancy (OR 1.044, p = 0.428) and miscarriage rates (OR 1.049, p = 0.623). Women with endometriosis had significantly lower number of oocytes retrieved (incidence risk ratio (IRR) 0.917, 95% CI 0.895-0.940), however, the number of fertilized oocytes did not differ among the two groups when adjusting for the number of oocytes retrieved (IRR 1.003, p = 0.794). An age-stratified analysis was performed, and no differences were observed in the reproductive outcomes between groups for women aged under 35 and 35 to 40. CONCLUSIONS: Reproductive outcomes among women undergoing IVF and diagnosed with endometriosis-associated infertility do not differ significantly from women without the disease. Although women with endometriosis generate fewer oocytes, fertilization rate is not impaired and the likelihood of achieving a live birth is also not affected