{"title":"From National to International Collaboration in Gestational Trophoblastic Disease: Hurdles and Possibilities.","authors":"Francois Golfier, Michael J Seckl","doi":"10.1159/000534321","DOIUrl":"10.1159/000534321","url":null,"abstract":"<p><strong>Background: </strong>Today, most women with gestational trophoblastic disease (GTD) can expect to be cured, particularly if they live in middle- to high-income countries with access to GTD centres. In contrast, countries lacking organized GTD care achieve lower survival rates.</p><p><strong>Objectives: </strong>The aim of the study was to review and consider some of the successes and areas for improvement in GTD care that have been achieved through national and international collaborations.</p><p><strong>Methods: </strong>The authors searched PubMed and used their own knowledge of working nationally and internationally in GTD to write this review.</p><p><strong>Conclusions: </strong>The establishment of expert centres and national systems for managing GTD is associated with the best disease outcomes. National and in particular international collaboration is most likely to result in further optimisation of management protocols and outcomes.</p><p><strong>Outlook: </strong>It remains crucial for countries lacking GTD centres to try to establish such facilities with support from national agencies and international expert societies.</p>","PeriodicalId":12952,"journal":{"name":"Gynecologic and Obstetric Investigation","volume":" ","pages":"254-258"},"PeriodicalIF":2.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11152002/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41199342","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Antonio Simone Laganà, Andrea Romano, Arne Vanhie, Celine Bafort, Martin Götte, Lauri A Aaltonen, Aymara Mas, Christine De Bruyn, Thierry Van den Bosch, An Coosemans, Stefano Guerriero, Sergio Haimovich, Vasilios Tanos, Marlies Bongers, Fabio Barra, Ayman Al-Hendy, Vito Chiantera, Umberto Leone Roberti Maggiore
{"title":"Management of Uterine Fibroids and Sarcomas: The Palermo Position Paper.","authors":"Antonio Simone Laganà, Andrea Romano, Arne Vanhie, Celine Bafort, Martin Götte, Lauri A Aaltonen, Aymara Mas, Christine De Bruyn, Thierry Van den Bosch, An Coosemans, Stefano Guerriero, Sergio Haimovich, Vasilios Tanos, Marlies Bongers, Fabio Barra, Ayman Al-Hendy, Vito Chiantera, Umberto Leone Roberti Maggiore","doi":"10.1159/000537730","DOIUrl":"10.1159/000537730","url":null,"abstract":"<p><strong>Background: </strong>Uterine fibroids are benign monoclonal tumors originating from the smooth muscle cells of the myometrium, constituting the most prevalent pathology within the female genital tract. Uterine sarcomas, although rare, still represent a diagnostic challenge and should be managed in centers with adequate expertise in gynecological oncology.</p><p><strong>Objectives: </strong>This article is aimed to summarize and discuss cutting-edge elements about the diagnosis and management of uterine fibroids and sarcomas.</p><p><strong>Methods: </strong>This paper is a report of the lectures presented in an expert meeting about uterine fibroids and sarcomas held in Palermo in February 2023.</p><p><strong>Outcome: </strong>Overall, the combination of novel molecular pathways may help combine biomarkers and expert ultrasound for the differential diagnosis of uterine fibroids and sarcomas. On the one hand, molecular and cellular maps of uterine fibroids and matched myometrium may enhance our understanding of tumor development compared to histologic analysis and whole tissue transcriptomics, and support the development of minimally invasive treatment strategies; on the other hand, ultrasound imaging allows in most of the cases a proper mapping the fibroids and to differentiate between benign and malignant lesions, which need appropriate management.</p><p><strong>Conclusions and outlook: </strong>The choice of uterine fibroid management, including pharmacological approaches, surgical treatment, or other strategies, such as high-intensity focused ultrasound (HIFU), should be carefully considered, taking into account the characteristics of the patient and reproductive prognosis.</p>","PeriodicalId":12952,"journal":{"name":"Gynecologic and Obstetric Investigation","volume":" ","pages":"73-86"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139930925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Meiqiong Li, Jiaye Long, Miyang Yang, Yingrong Pang, Baoxiang Chen, Hong Li
{"title":"The Intake of Cruciferous Vegetables and the Risk of Ovarian Cancer: A Systematic Review and Dose-Response Meta-Analysis.","authors":"Meiqiong Li, Jiaye Long, Miyang Yang, Yingrong Pang, Baoxiang Chen, Hong Li","doi":"10.1159/000537692","DOIUrl":"10.1159/000537692","url":null,"abstract":"<p><strong>Introduction: </strong>The link between cruciferous vegetables (CVs) and ovarian cancer (OC) is still uncertain. This meta-analysis is intended to investigate the association between CV consumption and the risk of OC, as well as to conduct a dose-response analysis to determine the degree of correlation between them.</p><p><strong>Methods: </strong>We systematically searched PubMed, Web of Science, Embase, and Cochrane Library databases between database creation and October 2023. The present meta-analysis has been duly registered and assigned the registration number CRD42023470299. This study followed the PRISMA guidelines. The statistical analysis was performed using Stata 14.0 software.</p><p><strong>Results: </strong>There were a total of 7 cohort studies and 7 case-control studies with 7,269 cases and 742,952 subjects. The combined relative risk (RR) of the highest intake of CVs was 0.90 (95% confidence intervals [CIs]: 0.84-0.96; I2 = 54.7%; p = 0.007) compared to the lowest intake of CVs. The odds ratio (OR) was 0.97 (95% CIs: 0.86-1.08; p = 0.192) for cohort studies, and the RR was 0.79 (95% CIs: 0.67-0.91; p = 0.167) for case-control studies. The intake of CVs and the risk of OC were linearly correlated. Adding 15 g of CVs to the diet each day decreased the likelihood of developing OC by almost 4% (RR = 0.963, 95% CIs: 0.905-1.025; p = 0.235).</p><p><strong>Conclusions: </strong>Consumption of CVs may be linked to a lower risk of OC.</p>","PeriodicalId":12952,"journal":{"name":"Gynecologic and Obstetric Investigation","volume":" ","pages":"351-362"},"PeriodicalIF":2.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140119325","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Vera Loizzi, Michele Mongelli, Francesca Arezzo, Isabella Romagno, Gerardo Cazzato, Ondina Popescu, Francesco Legge, Paolo Trerotoli, Erica Silvestris, Anila Kardhashi, Gennaro Cormio
{"title":"BRCA Mutation Patients: Are There Other Predisposing Factors for Ovarian Cancer Occurrence? A Multicenter Retrospective Study.","authors":"Vera Loizzi, Michele Mongelli, Francesca Arezzo, Isabella Romagno, Gerardo Cazzato, Ondina Popescu, Francesco Legge, Paolo Trerotoli, Erica Silvestris, Anila Kardhashi, Gennaro Cormio","doi":"10.1159/000535012","DOIUrl":"10.1159/000535012","url":null,"abstract":"<p><strong>Objectives: </strong>The objective of this multicenter retrospective study aimed to evaluate the association of clinical variables and the incidence of ovarian cancer in patients with BRCA 1-2 mutation carriers who underwent risk-reducing salpingo-oophorectomy (RRSO).</p><p><strong>Design: </strong>Patients with a pathogenic mutation of BRCA 1-2 genes and with no evidence of disease are considered eligible. The exclusion criterion was the refusal to undergo the surgery. The retrospective study included all RRSO performed from May 2015 to April 2022 in the three gynecological Institutions of Southern Italy for were included in this retrospective study.</p><p><strong>Participants/materials, setting, methods: </strong>Age, menarche age, BMI, menopause at time of RRSO, breast cancer first- and second-degree relatives, ovarian cancer first- and second-degree relatives, estroprogestin use, pregnancy normal full-term delivery, history of endometriosis, previous breast cancer and histologic type, previous abdominal/pelvic surgery, BRCA 1 or BRCA 2 status, preoperative serum CA-125 levels (IU/mL), age at time of RRSO and histological analysis were collected.</p><p><strong>Results: </strong>184 were recruited. One was excluded. To assess cancer risk, the outcome variable was classified into three classes: no event, cancer, and other conditions excluding cancer. 14 women presented ovarian cancer and tubal intraepithelial carcinoma (STIC) on histopathologic final report. Ovarian cancer was found in 8 patients, whereas the presence of STIC was found in 6 of them.</p><p><strong>Limitations: </strong>The low incidence of patients diagnosed with ovarian cancer or STIC compared with the total number of patients undergoing RRSO is a potential bias.</p><p><strong>Conclusions: </strong>Our study did not demonstrate a correlation between clinical features and the occurrence of precancerous or cancerous lesions in BRCA mutation carrier patients.</p>","PeriodicalId":12952,"journal":{"name":"Gynecologic and Obstetric Investigation","volume":" ","pages":"87-94"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139512203","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gloria Marquina, Grzegorz Szewczyk, Frederic Goffin
{"title":"The Rare of the Rarest: Placental Site Trophoblastic Tumor, Epithelioid Trophoblastic Tumor, Atypical Placental Site Nodule.","authors":"Gloria Marquina, Grzegorz Szewczyk, Frederic Goffin","doi":"10.1159/000536494","DOIUrl":"10.1159/000536494","url":null,"abstract":"<p><strong>Background: </strong>Epithelioid Trophoblastic Tumor (ETT) and Placental Site Trophoblastic Tumor (PSTT) are two of the rarest GTNs that share certain features at diagnosis and management. Atypical Placental Site Nodule (APSN) is a relatively new entity considered as a premalignant lesion.</p><p><strong>Objectives and methods: </strong>The aim of this review was to summarize the main characteristics of each of these entities, their diagnostic features, and their treatment's standard of care including fertility-sparing treatments.</p><p><strong>Outcome: </strong>This study provides a thorough review of ETT, PSTT, and APSN.</p><p><strong>Conclusions: </strong>The reader will gain an insight view of these rare tumors arising from the intermediate trophoblast.</p>","PeriodicalId":12952,"journal":{"name":"Gynecologic and Obstetric Investigation","volume":" ","pages":"239-246"},"PeriodicalIF":2.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139569961","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Olga Pustotina, Samuel H Myers, Vittorio Unfer, Irina Rasulova
{"title":"The Effects of Myo-Inositol and D-Chiro-Inositol in a Ratio 40:1 on Hormonal and Metabolic Profile in Women with Polycystic Ovary Syndrome Classified as Phenotype A by the Rotterdam Criteria and EMS-Type 1 by the EGOI Criteria.","authors":"Olga Pustotina, Samuel H Myers, Vittorio Unfer, Irina Rasulova","doi":"10.1159/000536163","DOIUrl":"10.1159/000536163","url":null,"abstract":"<p><strong>Setting: </strong>Insulin resistance (IR) and compensatory hyperinsulinemia are considered contributing factors toward polycystic ovary syndrome (PCOS).</p><p><strong>Objectives: </strong>This study evaluates the frequency of metabolic abnormalities in PCOS patients and the effects of myo-inositol (MI) and D-chiro-inositol (DCI), in a 40:1 ratio on hormonal and metabolic parameters.</p><p><strong>Participants: </strong>Thirty-four women with PCOS phenotype A (endocrine-metabolic syndrome [EMS-type 1]) between the ages of 20-40.</p><p><strong>Design: </strong>Open prospective study with phenotype A (EMS-type I, n = 34) supplemented with 2,255 mg/day of inositol (MI and DCI in a 40:1 ratio) for 3 months.</p><p><strong>Methods: </strong>The following were measured before and after treatment: serum levels of follicular stimulating hormone, luteinizing hormone (LH), estradiol, total and free testosterone, sex hormone-binding globulin (SHBG), free androgen index (FAI), anti-Müllerian hormone, glucose, insulin, HOMA-IR, and body mass index (BMI).</p><p><strong>Results: </strong>55.9% of the enrolled patients were overweight or obese, 50% affected by IR, 17.6% with a history of gestational diabetes mellitus, and 61.8% had familial diabetes mellitus. At the conclusion of the study, BMI (p = 0.0029), HOMA-IR (p < 0.001) significantly decreased, along with decreased numbers of patients with elevated insulin levels. The supplementation resulted in decreased total testosterone (p < 0.001), free testosterone (p < 0.001), FAI (p < 0.001), and LH (p < 0.001); increased SHBG (p < 0.001) and estradiol (p < 0.001).</p><p><strong>Limitations: </strong>The present analysis was limited to a 12-week follow-up, which precluded a long-term evaluation of the effects of MI and DCI combination. Also, this period was insufficient to achieve and analyze clinical changes such as restoration of the menstrual cycle, restoration of reproductive function, and clinical manifestations of hyperandrogenism.</p><p><strong>Conclusions: </strong>Supplementation improved metabolic and hormonal profile in PCOS phenotype A (EMS-type I) patients. This builds upon previous work that demonstrated that combined inositol treatment may be effective in PCOS. The study presented herein, used a reduced concentration than in prior literature; however, a significant change in hormonal and metabolic parameters was still observed.</p>","PeriodicalId":12952,"journal":{"name":"Gynecologic and Obstetric Investigation","volume":" ","pages":"131-139"},"PeriodicalIF":2.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11126204/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139722332","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Fadilah Fadilah, Budi Ermanto, Anom Bowolaksono, Asmarinah Asmarinah, Mila Maidarti, Aisyah Fitriannisa Prawiningrum, Muhammad Aldino Hafidzhah, Linda Erlina, Rafika Indah Paramita, Budi Wiweko
{"title":"Prediction of the Signaling Pathway in Polycystic Ovary Syndrome Using an Integrated Bioinformatics Approach.","authors":"Fadilah Fadilah, Budi Ermanto, Anom Bowolaksono, Asmarinah Asmarinah, Mila Maidarti, Aisyah Fitriannisa Prawiningrum, Muhammad Aldino Hafidzhah, Linda Erlina, Rafika Indah Paramita, Budi Wiweko","doi":"10.1159/000539228","DOIUrl":"10.1159/000539228","url":null,"abstract":"<p><strong>Objectives: </strong>The purpose of this study was to define the underlying biological mechanisms of polycystic ovarian syndrome (PCOS) utilizing the protein-protein interaction networks (PPINs) that were constructed based on the putative disease-causing genes for PCOS.</p><p><strong>Design: </strong>No animals were used in this research because this is an in silico study that mainly uses software and online analysis tools. Participants/Materials, Settings: Gene datasets related to PCOS were obtained from Genecards.</p><p><strong>Methods: </strong>The PPINs of PCOS were created using the String Database after genes related to PCOS were obtained from Genecards. After that, we performed an analysis of the hub-gene clusters extracted from the PPIN using the ShinyGO algorithm. In the final step of this research project, functional enrichment analysis was used to investigate the primary biological activities and signaling pathways that were associated with the hub clusters.</p><p><strong>Results: </strong>The Genecards database provided the source for the identification of a total of 1,072 potential genes related to PCOS. The PPIN that was generated by using the genes that we collected above contained a total of 82 genes and three different types of cluster interaction interactions. In addition, after conducting research on the PPIN with the shinyGO plug-in, 19 of the most important gene clusters were discovered. The primary biological functions that were enriched in the key clusters that were developed were ovarian steroidogenesis, the breast cancer pathway, regulation of lipid and glucose metabolism by the AMPK pathway, and ovarian steroidogenesis. The integrated analysis that was performed in the current study demonstrated that these hub clusters and their connected genes are closely associated with the pathogenesis of PCOS.</p><p><strong>Limitations: </strong>Several of the significant genes that were identified in this study, such as ACVR1, SMAD5, BMP6, SMAD3, SMAD4, and anti-mullerian hormone. It is necessary to do additional research using large samples, several centers, and multiple ethnicities in order to verify these findings.</p><p><strong>Conclusions: </strong>The integrated analysis that was performed in the current study demonstrated that these hub clusters and their connected genes are closely associated with the pathogenesis of PCOS. This information may possibly bring unique insights for the treatment of PCOS as well as the investigation of its underlying pathogenic mechanism.</p>","PeriodicalId":12952,"journal":{"name":"Gynecologic and Obstetric Investigation","volume":" ","pages":"485-511"},"PeriodicalIF":2.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141175025","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Baydaa Alsannan, Ahmad Alzeeny, Andrea Etrusco, Antonio Simone Laganà, Antonio D'Amato, Togas Tulandi
{"title":"Diagnosis and Management of Pelvic Congestion Syndrome: Comprehensive Review.","authors":"Baydaa Alsannan, Ahmad Alzeeny, Andrea Etrusco, Antonio Simone Laganà, Antonio D'Amato, Togas Tulandi","doi":"10.1159/000539931","DOIUrl":"10.1159/000539931","url":null,"abstract":"<p><strong>Background: </strong>Pelvic congestion syndrome (PCS) is a poorly understood condition that can be associated with chronic pelvic pain and could impact quality of life. The diagnosis is often made by exclusion of other causes of pelvic pain.</p><p><strong>Objective: </strong>The purpose of our review was to provide an update on the etiology, anatomy, physiology, identification, and the therapeutic management of PCS.</p><p><strong>Method: </strong>We conducted a literature review involving publications from 2003 to 2024 in PubMed, Elsevier, MEDLINE, as well as manual searches of primary and review articles using keywords such as \"pelvic veins\", \"embolization\", \"venography\", \"pelvic congestion syndrome\", and \"chronic pelvic pain\".</p><p><strong>Conclusion: </strong>PCS remains poorly understood. Symptoms can be non-specific and difficult to distinguish from other diseases; yet it is an important cause of chronic pelvic pain in women. To date, there have been only a small number of randomized trials and high-level evidence is still lacking.</p><p><strong>Outlook: </strong>We call for an increased awareness of PCS and additional clinical studies in a large number of patients.</p>","PeriodicalId":12952,"journal":{"name":"Gynecologic and Obstetric Investigation","volume":" ","pages":"437-444"},"PeriodicalIF":2.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141563295","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Société Suisse de Gynécologie et d'Obstétrique (SGGG) Congress, 27-29 June 2024.","authors":"","doi":"10.1159/000539163","DOIUrl":"10.1159/000539163","url":null,"abstract":"<p><p>???</p>","PeriodicalId":12952,"journal":{"name":"Gynecologic and Obstetric Investigation","volume":"89 Suppl 1 ","pages":"1-64"},"PeriodicalIF":2.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141283505","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"When to Consult a Geneticist Specialising in Gestational Trophoblastic Disease.","authors":"Lesley McMahon, Geoffrey J Maher, Caroline Joyce, Isa Niemann, Rosemary Fisher, Lone Sunde","doi":"10.1159/000531218","DOIUrl":"10.1159/000531218","url":null,"abstract":"<p><strong>Background: </strong>Gestational trophoblastic disease comprises hydatidiform moles and a rare group of malignancies that derive from trophoblasts. Although there are typical morphological features that may distinguish hydatidiform moles from non-molar products of conception, such features are not always present, especially at early stages of pregnancy. Furthermore, mosaic/chimeric pregnancies and twin pregnancies make pathological diagnosis challenging while trophoblastic tumours can also pose diagnostic problems in terms of their gestational or non-gestational origin.</p><p><strong>Objectives: </strong>The aim of this study was to show that ancillary genetic testing can be used to aid diagnosis and clinical management of GTD.</p><p><strong>Methods: </strong>Each author identified cases where genetic testing, including short tandem repeat (STR) genotyping, ploidy analysis, next-generation sequencing, and immunostaining for p57, the product of the imprinted gene CDKN1C, facilitated accurate diagnosis and improved patient management. Representative cases were chosen to illustrate the value of ancillary genetic testing in different scenarios.</p><p><strong>Outcome: </strong>Genetic analysis of placental tissue can aid in determining the risk of developing gestational trophoblastic neoplasia, facilitating discrimination between low risk triploid (partial) and high risk androgenetic (complete) moles, discriminating between a hydatidiform mole twinned with a normal conceptus and a triploid conception and identification of androgenetic/biparental diploid mosaicism/chimerism. STR genotyping of placental tissue and targeted gene sequencing of patients can identify women with an inherited predisposition to recurrent molar pregnancies. Genotyping can distinguish gestational from non-gestational trophoblastic tumours using tissue or circulating tumour DNA and can also identify the causative pregnancy which is the key prognostic factor for placental site and epithelioid trophoblastic tumours.</p><p><strong>Conclusions and outlook: </strong>STR genotyping and p57 immunostaining have been invaluable to the management of gestational trophoblastic disease in many situations. The use of next-generation sequencing and of liquid biopsies is opening up new pathways for GTD diagnostics. Development of these techniques has the potential to identify novel biomarkers of GTD and further refine diagnosis.</p>","PeriodicalId":12952,"journal":{"name":"Gynecologic and Obstetric Investigation","volume":" ","pages":"198-213"},"PeriodicalIF":2.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9538329","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}