Objective: Genetic carrier screening has the potential to identify couples at risk of having a child affected with an autosomal recessive or X-linked disorder. However, the current prevalence of carrier status for these conditions in developing countries is not well defined. This study assesses the prevalence of carrier status of selected genetic conditions utilizing an expanded, pan-ethnic genetic carrier screening panel (ECS) in a large population of Mexican patients.Methods: Retrospective chart review of all patients tested with a single ECS panel at an international infertility center from 2012 to 2018 were included, and the prevalence of positive carrier status in a Mexican population was evaluated.Results: Eight hundred five individuals were analyzed with ECS testing for 283 genetic conditions. Three hundred fifty-two carriers (43.7%) were identified with 503 pathogenic variants in 145 different genes. Seventeen of the 391 participating couples (4.34%) were identified as being at-risk couples. The most prevalent alleles found were associated with alpha thalassemia, cystic fibrosis, GJB2 nonsyndromic hearing loss, biotinidase deficiency, and familial Mediterranean fever.Conclusion: Based on the prevalence and severity of Mendelian disorders, we recommend that couples who wish to conceive regardless of their ethnicity background explore carrier screening and genetic counseling prior to reproductive medical treatment.

Background: To evaluate the prevalence of Müllerian anomalies (MAs) in a cohort of infertile Mexican women candidates for infertility treatments (intrauterine insemination or IVF (In vitro fertilization) cycles). Methods: We performed a retrospective observational study on a cohort of consecutive women, who underwent hysteroscopy and laparoscopy as part of the basic infertility workup from 2002 to 2014, at our center. Our aim was to calculate the prevalence of MAs and each subtype. Results: A total of 4005 women were included in the study. The MA prevalence was 4.4% (95% CI; 3.8-5.1; n = 177). Among women with MAs, the prevalence of different MA types was: septate uterus 54.2% (n = 96), arcuate uterus 15.8% (n = 28), bicornuate uterus 10.7% (n = 19), unicornuate uterus 8.5% (n = 15), didelphys uterus 6.2% (n = 11) and hypoplasia/agenesis 3.4% (n = 6), unclassifiable 1.1% (n = 2). Women with MAs who achieved pregnancy were: 33.3% (n = 59). The MA associated with the highest pregnancy rate was septate uterus after hysteroscopic correction, at 38.5% (37/96). Conclusions: The prevalence of MAs among infertile Mexican women can be considered as low, but not negligible. The septate uterus is the most common MA in women with infertility. Author Contributions: Conceptualization, E.R.-M.; methodology, S.G.V. and D.A.-R.; formal analysis, E.I.-C.; investigation, Y.P.G.-G. and A.V.-B.; data curation, J.R.-Y. and A.M.-E.; writing-original draft preparation, E.R.-M.; writing-review and editing, S.G.V., A.V. and F.M.L.; visualization, F.V.M.-H.; supervision, E.R.-M.; project administration, P.A.-G.; funding acquisition, E.R.-M.

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Background: The most commonly used non-invasive criterion for evaluating the probable success of transferring in vitro human embryos for implantation is their morphological development. With this criterion, however, embryos in cellular arrests go unnoticed. Extracellular matrix metalloproteases type 2 (MMP-2) and MMP-9 are key markers of embryonic development and the implantation process, according to various animal studies. The current study investigated the proMMP-2 and proMMP-9 expression in the culture media developing human embryos that were transferred for implantation. Methods: Forty-two patients were accepted in the Department of Reproductive Biology of a Hospital in México City, based on the Institutional inclusion criteria for in vitro fertilization. On day 5 of development, embryos were transferred to women, and the culture medium was stored at -70 to await assessment of the activity of proMMP-2 and proMMP-9 in substrate gel zymography. Results: The patients showing embryo sac development were assigned to the pregnant group (n =17) or non-pregnant (n =25). In both groups, the activity of proMMP-2 and proMMP-9 was evaluated in substrate gel zymography. Our results indicate for all 17 women able to achieve a full-term pregnancy, the activity band of proMMP-2 was found in the corresponding culture medium. For 11 of them, the band of proMMP-9. Regarding the other 25 patients, the expression band for proMMP-2 detected in 3 and that proMMP-9 in 11 individuals. Conclusions: On day 5 of embryo development, the evaluation of proMMP-2 and proMMP-9 in the embryo culture medium is a reliable indicator of embryo quality and capacity to establish pregnancy.