Reproductive medicine (Basel, Switzerland)最新文献

{"title":"Prenatal Evaluation of a Fetal Cystic Hygroma: An Unexpected Finding of a De Novo Fetal BRCA1 Deletion Case Report","authors":"Stephanie C. Laniewski, LauraAnne Hirschler, Anwar M. Iqbal, Neil S. Seligman","doi":"10.3390/reprodmed4040022","DOIUrl":"https://doi.org/10.3390/reprodmed4040022","url":null,"abstract":"This case presents a novel occurrence of a de novo BRCA1 gene deletion in a fetus with a cystic hygroma. Chorionic villus sampling (CVS) was performed for chromosome G-banding analysis, demonstrating a normal karyotype: 46, XX. Chromosome microarray analysis performed as a reflex test revealed an 80 kb deletion on 17q21.31, encompassing the BRCA1 gene. Follow-up FISH analysis performed on parental blood samples yielded negative results, confirming that the deletion was de novo in the fetus. Subsequent anatomic ultrasound evaluation showed no identifiable structural defects, and it was concluded that the microdeletion was unlikely to be the cause of the cystic hygroma. Regardless, it will be imperative that the patient’s daughter be appropriately counseled regarding the implications of carrying a BRCA1 deletion and the need for heightened surveillance in adulthood. As BRCA1 genetic testing is traditionally performed on adult patients with informed consent, this case report highlights the need for ongoing conversations and research in the management of incidental fetal diagnosis discovered during routine prenatal testing, as well as the care and counseling of these patients and their families.","PeriodicalId":74668,"journal":{"name":"Reproductive medicine (Basel, Switzerland)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135405298","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":"Can We Safely Decrease Early-Term Delivery and Cesarean Section Rate in Pregnancies Complicated by Fetal Transposition of Great Arteries?","authors":"Angel Chimenea, Lutgardo García-Díaz, Ana Méndez, Guillermo Antiñolo","doi":"10.3390/reprodmed4030021","DOIUrl":"https://doi.org/10.3390/reprodmed4030021","url":null,"abstract":"Background: Transposition of the great arteries (TGA) is a common critical neonatal congenital heart defect. After birth, physiological shunts close rapidly, necessitating early treatment with prostaglandin infusion and balloon-atrial septostomy. Timing of delivery is challenging, balancing the risks and advantages of early-term delivery and specialized care. The aim of this study is to assess the safety of a full-term delivery policy in fetuses diagnosed with TGA. Methods: A retrospective chart review was conducted of 17 women with a prenatal diagnosis of fetal TGA at Virgen del Rocío University Hospital between 2015 and 2021. Primary outcomes included: incidence of preterm, early-term, full-term, and late-term delivery, and rate of cesarean section. Secondary outcomes included: Saturday to Sunday admission and birth, and delivery between 0:00 a.m. and 8:00 a.m. Results: Full-term birth was achieved in 94.1%, reaching a low cesarean delivery rate (17.6%). A total of 82.4% of infants were born on weekdays, and only in three of the cases (17.6%) did delivery occur between 0 a.m. and 8 a.m. The median birth weight was 3300 g. Intravenous prostaglandins were administered in all cases, and 94.1% required balloon-atrial septostomy. Conclusions: In our study favoring full-term delivery, we reduce early-term deliveries and the cesarean section rate in prenatally diagnosed TGA.","PeriodicalId":74668,"journal":{"name":"Reproductive medicine (Basel, Switzerland)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134913459","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":"Recent Developments in In Vitro Spermatogenesis and Future Directions","authors":"In Ki Cho, Charles A. Easley","doi":"10.3390/reprodmed4030020","DOIUrl":"https://doi.org/10.3390/reprodmed4030020","url":null,"abstract":"Recent developments in stem cell technologies have made significant advancements in the field of in vitro gametogenesis. In vitro gametogenesis (IVG) is a promising technology where functional gametes (sperm or egg cells) can be generated from stem cells. Scientists have made continuous advancements in the field and successfully derived fully functional sperm from stem cells in mice. Two recent papers generated excitement in IVG by generating bi-maternal and bi-paternal mice from embryonic stem cells (ESCs) and pluripotent stem cells (PSCs). IVG is a promising technology with potential applications that include infertility treatment, fertility preservation, same-sex reproduction, bypassing oocyte depletion in women with advanced age, conservation biology, genetic disorder prevention, and research into human germ cell development. In vitro spermatogenesis (IVS) is the attempt to recreate the process of spermatogenesis in a culture system. Spermatogenesis is essential for male fertility and reproductive health, but it can be impaired by various factors such as genetic defects, environmental toxicants, infections, aging, or medical therapies. Spermatogenesis is a complex and highly regulated process involving multiple cell proliferation, differentiation, and maturation stages. The main challenges of IVS are to provide a suitable microenvironment that mimics the testis in vivo, to support the survival and development of all the cell types involved in spermatogenesis, and to achieve complete and functional spermatogenesis. Therefore, there is a great interest in developing methods to study spermatogenesis in vitro, both for basic research and clinical applications. This review covers recent developments in in vitro spermatogenesis in the past two years. Advances in tissue engineering and regenerative medicine have introduced techniques like ex vivo tissue culture and technologies such as bioreactors, microfluidic systems, and organoids. Bioreactors and microfluidic systems replicate physiological conditions for tissue and cell cultivation, while organoids model organ functionality. Meanwhile, scaffolds, made from various materials, provide essential structural support, guiding the growth and organization of cells into functional tissues.","PeriodicalId":74668,"journal":{"name":"Reproductive medicine (Basel, Switzerland)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136023697","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":"Special Issue Featuring Papers for Celebrating the Third Year since the Founding of Reproductive Medicine","authors":"Stefano Palomba","doi":"10.3390/reprodmed4030019","DOIUrl":"https://doi.org/10.3390/reprodmed4030019","url":null,"abstract":"It is a great pleasure to introduce this Special Issue celebrating the third year since the founding of Reproductive Medicine [...]","PeriodicalId":74668,"journal":{"name":"Reproductive medicine (Basel, Switzerland)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42265021","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":"Relationship between Ovarian Reserve Markers and Body Mass Index in Infertile Women with and without Polycystic Ovary Syndrome: A Retrospective Case–Control Study","authors":"L. Casadei, I. Nacci, V. Vicomandi, R. Sorge, C. Ticconi","doi":"10.3390/reprodmed4030018","DOIUrl":"https://doi.org/10.3390/reprodmed4030018","url":null,"abstract":"This study, carried out on 94 women with polycystic ovary syndrome (PCOS) and 176 controls without it, investigated the influence of body mass index (BMI) on serum levels of antimüllerian hormone (AMH), follicle stimulating hormone (FSH), luteinizing hormone (LH), and 17ß-estradiol (E2) in infertile patients. Patients were assigned to four subgroups according to age (<35 or ≥35 years) and BMI (<25 kg/m2 or ≥25 kg/m2). Significant differences between PCOS-affected and control women were observed with respect to most of the parameters of interest. In both PCOS-affected and control women, age was inversely correlated with AMH. In the control patients, age was directly correlated with FSH and LH. In women affected by PCOS, no correlation was found between BMI and serum levels of AMH, E2, and LH, except FSH. No correlation was found between BMI and markers of ovarian reserve in control women. BMI was not correlated with AMH in any of the four subgroups considered regardless of the presence of PCOS. An inverse correlation was found only in PCOS-affected women aged ≥35 years between a BMI < 25/FSH and a BMI ≥ 25/LH. The possible association between BMI and ovulation disorder (OD) was investigated in 96 control women aged ≤37 years. In women with OD, the BMI values were significantly higher and FSH and E2 levels were lower than those of patients without OD. Taken together, our data suggest that BMI is not related to hormonal parameters of ovarian reserve, irrespective of the presence of PCOS, and could influence ovulation disorder rather than cause a decrease in ovarian reserve.","PeriodicalId":74668,"journal":{"name":"Reproductive medicine (Basel, Switzerland)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45411976","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":"The Management of Inflammatory Bowel Disease during Reproductive Years: An Updated Narrative Review","authors":"Nariman Hossein-javaheri, Michael Youssef, Y. Jeyakumar, V. Huang, P. Tandon","doi":"10.3390/reprodmed4030017","DOIUrl":"https://doi.org/10.3390/reprodmed4030017","url":null,"abstract":"Inflammatory bowel disease (IBD) frequently affects women of childbearing age and often coincides with pregnancy. With an increased incidence of IBD, gastroenterologists and obstetricians are more frequently involved in caring for women of reproductive age. While the development of novel therapies has allowed for successful conception and pregnancy outcomes, many patients may hesitate to conceive due to concerns for presumed adverse IBD effects on maternal and fetal health. As such, a noticeable percentage of patients may choose voluntary childlessness. Indeed, active IBD carries a greater risk of adverse pregnancy outcomes, including a loss of pregnancy, preterm delivery, and emergent C-sections. However, those with a quiescent disease tend to have fewer pregnancy complications. Therefore, it is essential to achieve remission prior to conception to optimize pregnancy outcomes. Dedicated IBD and pregnancy clinics can greatly assist in improving patient knowledge and attitudes towards pregnancy; through individualized pre-conception counseling, education, and medication adherence, the risks of poor pregnancy outcomes can be minimized. Furthermore, it is important for healthcare providers to have a sufficient understanding of the medication safety and tools to measure the disease activity, while counseling patients during gestation and breastfeeding periods. This review article aims to provide the most recent evidence-based management methods for IBD during pregnancy.","PeriodicalId":74668,"journal":{"name":"Reproductive medicine (Basel, Switzerland)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48174568","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":"Travel during Pregnancy: A Web-Based Survey of People Who Have Been Pregnant within the Past 10 Years","authors":"Lada H. Nechval, K. Antony","doi":"10.3390/reprodmed4030016","DOIUrl":"https://doi.org/10.3390/reprodmed4030016","url":null,"abstract":"Travel is frequent among many populations, including pregnant people. The focus of this online survey was to better understand the travel practices of people who have been pregnant within the last ten years. An online survey was conducted for three months through social media posts on Facebook and Twitter. Previously pregnant people were asked questions about where they traveled, if they cancelled any travel plans, and travel-related discussions with their obstetric provider. During the three months the survey was open, 469 participants completed the survey. A total of 390 (83.2%) participants traveled domestically, while 114 (24.3%) traveled internationally or between non-contiguous states within the United States of America (USA). Of these respondents, 170 (44.2%) of the domestic travelers and 69 (61.1%) of the international travelers reported discussing travel plans with their OB provider. Additionally, 49 (10.5%) participants cancelled at least one domestic trip and 30 (6.41%) cancelled at least one international trip. Regarding travel discussions, 6 (3.6%) participants who traveled domestically and 2 (2.9%) who traveled internationally reported that their OB provider initiated the conversation. Many pregnant people choose to travel domestically and internationally. However, it is also clear that not all travelers discuss plans with their OB provider, and in few cases does the provider initiate the conversation. Given the frequency with which people travel, pregnant people and their OB providers should have conversations regarding travel to minimize potential risks.","PeriodicalId":74668,"journal":{"name":"Reproductive medicine (Basel, Switzerland)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48593407","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":"The Duration of Menstrual Blood Loss: Historical to Current Understanding","authors":"M. Habiba, G. Benagiano","doi":"10.3390/reprodmed4030015","DOIUrl":"https://doi.org/10.3390/reprodmed4030015","url":null,"abstract":"Most published research focuses on the amount of menstrual blood loss and, to a lesser extent, on cyclicity. Little attention has been paid to the duration of bleeding, the factors that enable its cessation within a ‘normal’ timeframe, or to patterns that entail interruption and resumption of blood loss. The definition of what constitutes normal remains arbitrary and there is no therapy specifically designed to shorten the duration of bleeding. Here, we critically review the literature that addresses the duration of bleeding and the factors that trigger endometrial breakdown and repair. Available reports used population averages which mask inter- and intra-individual variations. The duration of bleeding is not necessarily linked to the amount of loss but may be influenced by age, ethnicity, habitus, region and altitude of residence, dieting and stress. The onset of bleeding has been linked to declining steroid production by the corpus luteum. There remains considerable controversy around the extent of endometrial shedding at menstruation. This is likely to vary within and between women. The significance of a change from previous patterns, very short or prolonged bleeding, days of light loss or spotting before or after days of bleeding, or of bleed-free days that punctuate flow, remain poorly understood.","PeriodicalId":74668,"journal":{"name":"Reproductive medicine (Basel, Switzerland)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47366117","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 Need for Insulin Treatment: A Risk-Based Approach to the Management of Women with Gestational Diabetes Mellitus","authors":"Anna S. Koefoed, H. Mcintyre, K. Gibbons, C. W. Poulsen, J. Fuglsang, P. Ovesen","doi":"10.3390/reprodmed4030014","DOIUrl":"https://doi.org/10.3390/reprodmed4030014","url":null,"abstract":"Gestational diabetes mellitus (GDM) is associated with adverse pregnancy outcomes including large for gestational age infants. Individualizing the management of women with GDM based on the likelihood of needing insulin may improve pregnancy outcomes. The aim of this study is to identify characteristics associated with a need for insulin in women with GDM, and to develop a predictive model for insulin requirement. A historical cohort study was conducted among all women with GDM in a singleton pregnancy at Aarhus University Hospital from 2012 to 2017. Variables associated with insulin treatment were identified through multivariable logistic regression. The variables were dichotomized and included in a point scoring system aiming to predict the likelihood of needing insulin. Seven variables were associated with needing insulin: family history of diabetes, current smoker, multiparity, prepregnancy body mass index, gestational age at the oral glucose tolerance test (OGTT), 2-h glucose value at the OGTT and hemoglobin A1c at diagnosis. A risk score was calculated assigning one point to each variable. On ROC analysis, a cut-off value of ≥3 points optimally predicted a requirement for insulin. This prediction model may be clinically useful to predict requirement for insulin treatment after further validation.","PeriodicalId":74668,"journal":{"name":"Reproductive medicine (Basel, Switzerland)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47346688","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":"Hypo-Osmotic Swelling Test and Male Factor","authors":"J. Check, D. Check, A. Bollendorf","doi":"10.3390/reprodmed4020013","DOIUrl":"https://doi.org/10.3390/reprodmed4020013","url":null,"abstract":"For over 30 years, defects of the functional integrity of the sperm membrane, as evidenced by a low hypo-osmotic swelling test when evaluating the semen analysis, are not only associated with male infertility (even with sperm that otherwise seem normal), but unless corrected, successful intrauterine pregnancies will rarely ensue. This defect, interestingly, does not impair fertilization of the oocyte, but instead, prevents a normal-appearing embryo from successfully implanting. The frequency in infertile couples increases with advancing age of the male, ranging from 5% in younger males to 25% in men in their late forties or early fifties. It seems to be related to a toxic protein added to the sperm as they traverse the ejaculatory ducts. The defect is very correctable, either by treating the sperm with the protein digestive enzyme chymotrypsin prior to intrauterine insemination and avoidance of unprotected sex prior to ovulation, or in vitro fertilization with intracytoplasmic sperm injection. Unfortunately, this very inexpensive, easy-to-perform test is rarely performed by the large majority of physicians treating infertility. The purpose of this manuscript is to hopefully rekindle interest within the infertility community to add this test to the standard semen analysis.","PeriodicalId":74668,"journal":{"name":"Reproductive medicine (Basel, Switzerland)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45592341","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}