F&S reviews最新文献

{"title":"Prognostic value of oocyte quality in assisted reproductive technology outcomes: a systematic review","authors":"Nicole M. Fischer M.P.H.,&nbsp;Ha Vi Nguyen M.D.,&nbsp;Bhuchitra Singh M.D., M.P.H., M.H.S.,&nbsp;Valerie L. Baker M.D.,&nbsp;James H. Segars M.D.","doi":"10.1016/j.xfnr.2021.03.001","DOIUrl":"10.1016/j.xfnr.2021.03.001","url":null,"abstract":"<div><h3>Objective</h3><p>To survey and assess modern methodologies used to test oocyte quality that have prognostic value in predicting assisted reproductive technology outcomes</p></div><div><h3>Evidence Review</h3><p><span>Following the Preferred Reporting Items for Systematic Reviews<span> and Meta-Analyses guidelines, we surveyed the English-language literature between January 1, 2010, and December 31, 2019, using PubMed, Scopus, and Embase databases. Two reviewers screened for articles focusing on oocyte quality markers that predict assisted reproductive technology outcomes, including embryo quality as well as </span></span>fertilization<span><span>, implantation, pregnancy, continued pregnancy, and live birth rates. Articles that did not mention oocytes or those that focused on nonhuman subjects, oocyte aging, </span>oocyte maturation, embryo quality, interventions, or specific clinical diagnoses (endometriosis and polycystic ovarian syndrome) were deemed outside the scope of this analysis and excluded.</span></p></div><div><h3>Results</h3><p>Twenty-six relevant articles were identified, including 19 prospective and 7 retrospective studies (n = 2,210 patients). We identified 3 general approaches for oocyte quality assessment: morphological evaluation (11 articles), genomics and proteomics (13 articles), and artificial intelligence (2 articles). Morphological assessment did not show a consistent pattern of predictive value of predicting in vitro fertilization outcomes (7 articles in favor of its predictive value, 4 against). A considerable proportion of genomic and proteomic articles identified promising biomarkers that may predict pregnancy and live birth (12 in favor, 1 against). Machine learning is a rapidly growing frontier that minimizes subjectivity while potentially improving predictive ability (2 in favor).</p></div><div><h3>Conclusion</h3><p>Although there remains a lack of consensus on optimal methods to predict reproductive success, machine learning and genomics demonstrate promise in improving the understanding of oocyte quality assessment and prognostication.</p></div>","PeriodicalId":73011,"journal":{"name":"F&S reviews","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.xfnr.2021.03.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"95763307","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Factors associated with searching for people related through donor conception among donor-conceived people, parents, and donors: a systematic review","authors":"Astrid Indekeu Ph.D. ,&nbsp;A.Janneke.B.M. Maas Ph.D. ,&nbsp;Emily McCormick M.P.H ,&nbsp;Jean Benward M.S. ,&nbsp;Joanna E. Scheib Ph.D.","doi":"10.1016/j.xfnr.2021.01.003","DOIUrl":"10.1016/j.xfnr.2021.01.003","url":null,"abstract":"<div><h3>Objective</h3><p>To review the body of literature to summarize the existing knowledge about factors that shape gamete donor linking and discuss their implications for clinical care and future research. Recent changes in policy, practice, and technology have made it possible for individuals connected through donor conception—donor-conceived (DC) people, parents, and donors—to find and contact one another.</p></div><div><h3>Evidence Review</h3><p>A bibliographic search of English, French, German, Spanish, and Dutch language peer-reviewed publications was performed according to the Preferred Reporting Items for Systematic Reviews<span><span> and Meta-Analyses guidelines using the electronic databases PubMed, EMBASE, and Web of Science Core Collection. The inclusion criteria were as follows: original empirical research with quantitative, qualitative, or mixed methods; research participants were DC people, gamete donors, and/or parents interested in searching for people (genetically) related to them through gamete donation; and a substantial part of the article focused on searching for or an interest in contacting donor-related people. The exclusion criteria were as follows: publications other than original peer-reviewed research and publications on known donors and </span>surrogacy. Methodological quality was assessed using the Critical Appraisal Skills Program checklist for qualitative studies and the Joanna Briggs Institute Critical Appraisal Checklist for quantitative studies. Eligibility assessments, quality assessments, and data extraction were independently performed by 2 teams, with disagreements resolved by discussion.</span></p></div><div><h3>Results</h3><p>An initial search yielded 4,040 publications, of which 119 articles were full-text screened and 47 studies were included for review. The studies were diverse in design, setting, recruitment methods, data collection, and stakeholder groups. The DC people, parents, and donors of the studies included had an interest in each other; however, their motives, desired information, and/or expectations regarding their interest and/or seeking contact differed. Among the participants in the studies, the interests of the DC people, parents, and donors were intertwined and not necessarily in conflict. Methodological limitations of the included studies were identified.</p></div><div><h3>Conclusion</h3><p>Donor linking occurred in a complex array of several factors: psychosocial, sociodemographic, relational, and environmental variables. Further research is needed to better understand the relative influence of these variables and identify the psychosocial needs of the different groups. Preliminary findings showed that stakeholders can have an interest in an ongoing contact. However, the studies’ methodological shortcomings limited the extent to which these findings could be applied to all people interested in donor-related contact. Follow-up research is needed on what happens after parties are li","PeriodicalId":73011,"journal":{"name":"F&S reviews","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.xfnr.2021.01.003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48651309","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Preimplantation genetic testing: a review of current modalities","authors":"Benjamin S. Harris M.D., M.P.H. ,&nbsp;Katherine C. Bishop M.D. ,&nbsp;Jeffrey A. Kuller M.D. ,&nbsp;Sarah Alkilany B.S. ,&nbsp;Thomas M. Price M.D.","doi":"10.1016/j.xfnr.2020.10.001","DOIUrl":"10.1016/j.xfnr.2020.10.001","url":null,"abstract":"<div><p>In this review, we evaluate the different modalities of embryo genetic testing including preimplantation genetic testing for aneuploidy<span><span><span> (PGT-A), for monogenic/single-gene abnormalities (PGT-M), and for chromosomal structural rearrangements (PGT-SR), with a clinical focus on indications, strengths, limitations, and testing parameters of each technique. Articles were obtained from PubMed and American College Obstetricians and Gynecologists and American Society Reproductive Medicine committee opinions. While some studies have suggested that PGT-A increases live births in women of advanced maternal age, a recent large </span>randomized controlled trial<span> has shown no benefit to PGT-A compared with morphology grading alone, including in the subgroup of women &gt;35 years of age. Aneuploidy screening shortens the time to live birth in women with advanced maternal age. However, PGT-A is not without risk (false positive and false negative and “no read” results and embryonic damage), has significant financial cost, and should only be used in conjunction with genetic counseling and under the supervision of a qualified infertility subspecialist. PGT-A is most cost-effective among women ≥38 years of age. PGT-M and PGT-SR offer useful low-risk screening modalities for debilitating inherited disorders. Significant advances have been made in the ability to analyze </span></span>human embryos<span> for genetic abnormalities. Screening for monogenic and chromosomal structural abnormalities potentially eliminates disease transmission to subsequent generations. Optimization of these molecular techniques remains necessary to decrease the false positive rates. Additional study of embryo mosaicism is needed to clarify which embryos are appropriate for transfer.</span></span></p></div>","PeriodicalId":73011,"journal":{"name":"F&S reviews","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.xfnr.2020.10.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47715636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Preconceptual care for couples seeking fertility treatment, an evidence-based approach","authors":"Elpiniki Chronopoulou M.Sc., M.R.C.O.G. ,&nbsp;Amelia Seifalian M.B.B.S. ,&nbsp;Judith Stephenson F.F.P.H. ,&nbsp;Paul Serhal F.R.C.O.G. ,&nbsp;Wael Saab M.D., M.R.C.O.G. ,&nbsp;Srividya Seshadri M.Sc., M.D., M.R.C.O.G.","doi":"10.1016/j.xfnr.2020.09.001","DOIUrl":"10.1016/j.xfnr.2020.09.001","url":null,"abstract":"<div><p><span>There is accumulating evidence demonstrating that positive lifestyle modification and the optimization of the preconceptual period can influence the reproductive potential for both men and women. However, a large percentage of couples attending fertility clinics with potential to improve preconception habits may not always receive appropriate preconceptual advice. In addition, supplements and adjuncts that promise to increase fertility treatment success rates are marketed to infertile patients despite lack of convincing evidence supporting their benefit. This review aims to identify possible associations between lifestyle factors for couples seeking fertility treatment and fertility treatment outcomes and to offer possible explanations of the biological basis of these associations. An electronic search was conducted from 1978 through July 2019 linking preconceptual behaviors for women and men with the outcome of fertility treatment. The literature search explored the importance of numerous factors, including smoking, caffeine, alcohol, obesity, physical exercise, recreational drugs, stress, diet, supplements, </span>alternative medicine, environmental factors, and pollutants. Some associations were found to be more significant than others. The preconceptual period is undeniably a delicate and important window which should not be overlooked during fertility counseling. Simple lifestyle modifications could positively influence fertility treatment outcomes. Fertility teams, consisting of clinicians, fertility nurses, dieticians, psychologists, exercise advisors and others, should dedicate time to offer evidence-based preconceptual advice and targeted interventions to couples seeking fertility treatment.</p></div>","PeriodicalId":73011,"journal":{"name":"F&S reviews","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.xfnr.2020.09.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"107538329","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Predicting the outcomes of assisted reproductive technology treatments: a systematic review and quality assessment of prediction models","authors":"Ian Henderson M.Sc. ,&nbsp;Michael P. Rimmer M.Sc. ,&nbsp;Stephen D. Keay M.D. ,&nbsp;Paul Sutcliffe Ph.D. ,&nbsp;Khalid S. Khan M.Sc. ,&nbsp;Ephia Yasmin Ph.D. ,&nbsp;Bassel H. Al Wattar Ph.D.","doi":"10.1016/j.xfnr.2020.11.002","DOIUrl":"10.1016/j.xfnr.2020.11.002","url":null,"abstract":"<div><h3>Objective</h3><p><span><span>Predicting the outcomes of assisted reproductive technology (ART) </span>treatments is desirable, but adopting prediction models into clinical practice remains limited. We aimed to review available prediction models for ART treatments by conducting a </span>systematic review of the literature to identify the best-performing models for their accuracy, generalizability, and applicability.</p></div><div><h3>Evidence review</h3><p>We searched electronic databases (MEDLINE, EMBASE, and CENTRAL) until June 2020. We included studies reporting on the development or evaluation of models predicting the reproductive outcomes before (pre-ART) or after (intra-ART) starting treatment in couples undergoing any ART treatment. We evaluated the models’ discrimination, calibration, type of validation, and any implementation tools for clinical practice.</p></div><div><h3>Results</h3><p><span>We included 69 cohort studies<span> reporting on 120 unique prediction models. Half of the studies reported on pre-ART (48%) and half on intra-ART (56%) prediction models. The commonest predictors used were maternal age (90%), tubal factor subfertility (50%), and </span></span>embryo quality (60%). Only 14 models were externally validated (14/120, 12%), including 8 pre-ART models (Templeton, Nelson, LaMarca, McLernon, Arvis, and the Stolwijk A/I, C, II models) and 5 intra-ART models (Cai, Hunault, van Loendersloot, Meijerink, Stolwijk B, and the McLernon posttreatment model), with a reported c-statistic ranging from 0.50 to 0.78. Ten of these models provided implementation tools for clinical practice, with only 2 reporting online calculators.</p></div><div><h3>Conclusion</h3><p>We identified externally validated prediction models that could be used to advise couples undergoing ART treatments on their reproductive outcomes. The quality of the available models remains limited and more research is needed to improve their generalizability and applicability into clinical practice.</p></div>","PeriodicalId":73011,"journal":{"name":"F&S reviews","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.xfnr.2020.11.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41417798","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Polycystic ovary syndrome and the forgotten uterus","authors":"Pardis Hosseinzadeh M.D. ,&nbsp;Maya Barsky M.D. ,&nbsp;William E. Gibbons M.D. ,&nbsp;Chellakkan S. Blesson M.Phil., Ph.D.","doi":"10.1016/j.xfnr.2020.12.001","DOIUrl":"10.1016/j.xfnr.2020.12.001","url":null,"abstract":"<div><h3>Objective</h3><p>To review the features of endometrial and uterine aberrations in women with Polycystic ovary syndrome (PCOS).</p></div><div><h3>Evidence Review</h3><p>PCOS is a common disorder that affects various facets of fertility. Although the ovarian and metabolic aspects of the disease have been well studied, its role in uterine dysfunction is not well understood. A systematic literature search was performed in PubMed, Medline, and the Cochrane Library databases for papers published in English up to March 2020. The following key words were used for the search, alone or in combination: polycystic ovary syndrome, poly cystic ovarian disease<span><span>, polycystic ovaries, PCOS, PCOD, PCO, PCOM, oligoovulation, anovulation, oligomenorrhea, amenorrhea, and </span>hyperandrogenism<span><span><span>, and this was combined with terms such as endometrium, infertility, uterus, </span>progesterone resistance, </span>endometrial hyperplasia<span>, pregnancy outcomes, and preterm delivery.</span></span></span></p></div><div><h3>Results</h3><p>Result of a comprehensive review show that PCOS affects uterus and leads to various pathologies. Although reported anecdotally in various literature, systematic hypothesis driven investigations are needed to clearly understand the uterine dysfunction.</p></div><div><h3>Conclusion</h3><p>In this review, we highlight various uterine pathologies that are associated with PCOS and explore its impact on fertility. We also discuss key uterine molecular pathways that are altered in PCOS that may be related to infertility, endometrial hyperplasia, and cancer.</p></div>","PeriodicalId":73011,"journal":{"name":"F&S reviews","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.xfnr.2020.12.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39336059","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sperm morphology and its disorders in the context of infertility","authors":"Sergio Oehninger M.D., Ph.D. ,&nbsp;Thinus F. Kruger M.D., D.Sc.","doi":"10.1016/j.xfnr.2020.09.002","DOIUrl":"10.1016/j.xfnr.2020.09.002","url":null,"abstract":"<div><p>This manuscript reviews sperm morphology and its disorders in the context of infertility. A new look into an old challenge is delivered, based on contemporary scientific and clinical evidence. We highlight the functional repercussions of sperm morphology aberrations and dissect the cause and effect of a variety of insults and pathogenic mechanisms focusing on the relationships among sperm shape, function, and compartmental analysis of cellular and subcellular structures. Different types of teratozoospermia<span><span> are identified as a sequela of aberrant </span>spermiogenesis<span>, and their proven or speculated origins are discussed. In addition to known and suspected genetic causes, oxidative damage is highlighted as a major plausible pathogenic factor. The examination of sperm morphology with the use of strict criteria provides valuable information to guide the clinician to direct therapeutic management. We emphasize that sperm morphology is probably the most relevant parameter of the traditional semen evaluation and can be used as a valid biomarker of functional deficiencies, providing information about chances of conception. The information provided by the examination of sperm morphology as part of a complete semen analysis becomes more and more significant from a clinical point of view for infertility and perhaps men’s health.</span></span></p></div>","PeriodicalId":73011,"journal":{"name":"F&S reviews","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.xfnr.2020.09.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"108206545","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Large for gestational age after frozen embryo transfer: an evaluation of the possible causes for this relationship","authors":"Rachel E. Gaume M.D. ,&nbsp;Ryan J. Heitmann D.O. ,&nbsp;Jacqueline Luizzi M.L.I.S., A.H.I.P. ,&nbsp;Bruce D. Pier M.D.","doi":"10.1016/j.xfnr.2020.10.002","DOIUrl":"10.1016/j.xfnr.2020.10.002","url":null,"abstract":"<div><p>Frozen embryo transfer<span><span> is associated with increased fetal weight<span>, increased rates of large for gestational age (LGA) infants, and increased </span></span>macrosomia<span><span><span>, when compared with fresh embryo transfer or natural conception. Although the incidence of LGA births after frozen embryo transfer has been stable for several years, the pathological causes for these findings are not understood. The purpose of this review is to understand the state of current literature suggesting causes for this relationship, and to highlight areas in need of future research to potentially address and correct this finding. Our review addresses finding in the area with respect to alterations in </span>epigenetics, differing types of </span>embryo culture<span> media, differing days of cryopreservation, supraphysiologic estradiol levels, and with programmed versus natural cycle endometrial preparation.</span></span></span></p></div>","PeriodicalId":73011,"journal":{"name":"F&S reviews","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.xfnr.2020.10.002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"106752599","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exogenous testosterone replacement therapy versus raising endogenous testosterone levels: current and future prospects","authors":"Kajal Khodamoradi Ph.D. ,&nbsp;Zahra Khosravizadeh Ph.D. ,&nbsp;Madhu Parmar B.S. ,&nbsp;Manish Kuchakulla B.S. ,&nbsp;Ranjith Ramasamy M.D. ,&nbsp;Himanshu Arora Ph.D.","doi":"10.1016/j.xfnr.2020.11.001","DOIUrl":"10.1016/j.xfnr.2020.11.001","url":null,"abstract":"<div><p><span><span>Testosterone replacement<span> therapy (TRT) is an important treatment option for men with low testosterone levels and symptomatic </span></span>hypogonadism<span>. Various formulations for exogenous TRT exist, including oral, buccal, intramuscular, transdermal, subdermal, and nasal ones. However, exogenous TRT is a double-edged sword, posing risks to fertility due to negative feedback mechanisms on the hypothalamic-pituitary-gonadal (HPG) axis, which is the main regulator of testosterone production and </span></span>spermatogenesis<span> in males. Alternative pharmacologic therapies are being used to increase endogenous testosterone levels while attempting to preserve the fertility and function of the HPG axis. These include selective estrogen receptor modulators<span><span>, gonadotropins<span>, and aromatase inhibitors. This article focuses on overviewing and comparing the current methods of exogenous TRT, alternative treatments to increase endogenous testosterone levels, and novel treatments that are currently under investigation to normalize testosterone levels while preserving the function of the HPG axis. In conclusion, reports suggest that even though TRT is an important way to restore testosterone levels and reduce symptoms associated with low testosterone, it is often difficult to decide which treatment to select for patients with </span></span>testosterone deficiency. Several factors need to be considered to decide on optimal therapy option for the patient, including, but not limited to, safety, efficacy, cost-effectiveness, dosing flexibility, and side effects. Alternative approaches aimed at improving endogenous testosterone production and preserving fertility are promising but are still in the initial stages of development. Ultimately, patient-centered decision-making is paramount to appropriate treatment selection.</span></span></p></div>","PeriodicalId":73011,"journal":{"name":"F&S reviews","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.xfnr.2020.11.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25391051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"New perspectives on the genetic causes of diminished ovarian reserve and opportunities for genetic screening: systematic review and meta-analysis","authors":"Carleigh B. Nesbit D.O. ,&nbsp;Jia Huang M.D., Ph.D. ,&nbsp;Bhuchitra Singh M.D., M.P.H. ,&nbsp;Jacqueline Y. Maher M.D. ,&nbsp;Lisa M. Pastore Ph.D. ,&nbsp;James Segars M.D.","doi":"10.1016/j.xfnr.2020.06.001","DOIUrl":"10.1016/j.xfnr.2020.06.001","url":null,"abstract":"<div><h3>Objective</h3><p>To provide an update on single-gene mutations identified as causative for pathologic diminished ovarian reserve (DOR) to inform clinical screening recommendations.</p></div><div><h3>Evidence Review</h3><p>A systematic review of the literature was performed in accordance with PRISMA guidelines using PubMed and EMBASE databases. Only full-text articles in English were included and articles were excluded that did not relate to single-gene causes of pathologic DOR in humans. The search was supplemented using references of the included articles. Primary outcomes included prevalence ratios (PRs) for 12 genes associated with pathologic DOR.</p></div><div><h3>Result(s)</h3><p>A total of 550 articles were screened, with 108 articles included for review. Fifteen observational studies had prevalence data available for quantitative analysis. Elevated prevalence ratios were found in women with DOR for the <span><em>FMR1</em></span> premutation and <em>FMR2</em> mutations as well as single-nucleotide polymorphisms in the <span><span><em>BMP15</em><em>, </em></span><em>GDF9</em><span><em>, </em><em>FSHR</em></span></span>, and <em>NOBOX</em> genes. Although some studies have suggested an increased prevalence of <span><em>BRCA1</em></span> and <span><em>BRCA2</em></span> mutations in women with DOR, the prevalence in the controls in the included studies was elevated and PRs did not achieve statistical significance.</p></div><div><h3>Conclusion(s)</h3><p>Women diagnosed with DOR are at an increased risk of carrying mutations in <em>FMR1</em>, <em>FMR2,</em> and variants in <em>BMP15, GDF9, FSHR</em>, and <em>NOBOX</em> genes. Of these, the only gene identified as having the potential to cause significant deleterious effects in offspring is the <em>FMR1</em> premutation, which supports current national screening guidelines. Further studies of <em>BRCA1</em> and <em>BRCA2</em> are needed to determine whether pathologic DOR might be associated with mutations in those genes.</p></div>","PeriodicalId":73011,"journal":{"name":"F&S reviews","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.xfnr.2020.06.001","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"99979659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}