{"title":"The genetic background of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: A systematic review","authors":"Panagiotis Christopoulos , Ermioni Tsarna , Vasiliki Palamouti , Efstathia Davouti , Periklis Makrythanasis , Nikolaos F. Vlahos","doi":"10.1016/j.bpobgyn.2026.102703","DOIUrl":"10.1016/j.bpobgyn.2026.102703","url":null,"abstract":"<div><h3>Introduction</h3><div>Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by the congenital absence of the uterus and upper vagina, resulting from failed Müllerian duct development during embryogenesis. Given advancements in reproductive medicine enabling genetic motherhood, this study aims to systematically review published research on the genetic and epigenetic factors contributing to MRKH etiopathogenesis.</div></div><div><h3>Methods</h3><div>Original peer-reviewed studies were identified through a PubMed search and manual screening of references in included papers and relevant reviews.</div></div><div><h3>Results</h3><div>From 494 records identified in PubMed and 43 through reference screening, 97 studies are included in this systematic review, with 17 examining MRKH patients with additional congenital anomalies or developmental disorders. Implicated genes include WNT and HOXA family members, TBX6, GREB1L, LHX1, LRP10, PAX8, and GATA3, while limited data suggest that the AMH gene and its promoter may act synergistically in combination with other genes. Chromosomal regions such as 17q12, 16p11, 1q21-q22, 22q11, 1q44, 16p13.3, and Xp22.3 may also contribute to MRKH pathogenesis. Findings on epigenetic regulation show variability, with no consistent patterns of specific gene upregulation or downregulation.</div></div><div><h3>Conclusions</h3><div>Genetic aberrations explain the MRKH phenotype in only a subset of cases. Identifying genetic causes enables more targeted genetic counseling in the context of potential genetic motherhood. However, counseling remains complex due to variable expressivity and the poorly understood roles of epigenetic and environmental factors.</div></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":"105 ","pages":"Article 102703"},"PeriodicalIF":4.1,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146081596","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A maturing approach to the assessment of ovarian teratomas","authors":"Zoran B. Stanković , Ozlem Dural","doi":"10.1016/j.bpobgyn.2026.102701","DOIUrl":"10.1016/j.bpobgyn.2026.102701","url":null,"abstract":"<div><div>A wide spectrum of ultrasonographic features for dermoid cysts and mature cystic teratomas of the ovary has been described by both radiologists and gynecologists. The nature of these lesions is later confirmed by Pathologists as being benign ovarian tumors. There is however a great difference in the surgical outcomes and ovarian preservation in pediatric and adolescent patients with benign teratomas. Clinicians focus on the tumor characteristics seen on scanning, with management decisions then based on that information. Whereas these tumors tend to have a cystic predominance, on occasion they can be solid, and can resemble a malignancy.</div><div>Ovarian preservation is mostly based on the assumption by the surgeon that normal ovarian tissue surrounds the tumor (and that the cyst is benign). The clinical assessment can be positively influenced by the visualization of normal tissue on preoperative ultrasonography. This is called the Ovarian Crescent Sign, which is a most important finding, and which should be specifically and clearly reported as such. Once the Ovarian Crescent Sign is incorporated into the assessment, the presence of any accompanying oedema of the normal ovarian tissue can help in ensuring quick recognition of ovarian torsion in an otherwise benign tumor.</div></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":"105 ","pages":"Article 102701"},"PeriodicalIF":4.1,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146168428","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Primary ovarian insufficiency","authors":"Megan McCracken, Nichole Tyson","doi":"10.1016/j.bpobgyn.2025.102685","DOIUrl":"10.1016/j.bpobgyn.2025.102685","url":null,"abstract":"<div><div>This chapter provides an up to date review of primary ovarian insufficiency. We address the diagnosis, pathophysiology, presentation, evaluation, treatment, and long term follow up of the disease. We discuss a detailed review of the current literature in each section and also provide numerous tables and figures for ease of reading and understanding. Finally, we also provide a list of multiple patient resources for clinicians to provide to their patients.</div></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":"104 ","pages":"Article 102685"},"PeriodicalIF":4.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145737206","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Alison Q. Campbell , Asma Khalil , Francesco D'Antonio , Hiba J. Mustafa
{"title":"Preterm birth following fetoscopic laser surgery for twin-to-twin transfusion syndrome: Current insights and future directions","authors":"Alison Q. Campbell , Asma Khalil , Francesco D'Antonio , Hiba J. Mustafa","doi":"10.1016/j.bpobgyn.2025.102689","DOIUrl":"10.1016/j.bpobgyn.2025.102689","url":null,"abstract":"<div><div>Preterm birth (PTB) remains a major complication following fetoscopic laser surgery (FLS) for twin-to-twin transfusion syndrome (TTTS) and is associated with significant neonatal morbidity and mortality. This review examines the underlying pathophysiological mechanisms, clinical outcomes, and preventive strategies for PTB in TTTS-affected pregnancies. Primary contributors to PTB in TTTS include polyhydramnios-induced uterine overdistention, cervical shortening, and procedure-related membrane injury and inflammation. Despite its clinical relevance, there is currently no consensus regarding the optimal cervical length (CL) threshold for intervention in TTTS cases. Cervical cerclage has yielded inconsistent results in PTB prevention, although no randomized controlled trials (RCTs) exist. Current evidence supports its potential benefit primarily in cases with a very short cervix (<15 mm). Cervical pessary has not consistently demonstrated benefit in PTB prevention post-FLS. In cases with short cervix, vaginal progesterone may reduce the risk of very early PTB (<28 weeks) in TTTS, although data remains limited and primarily observational. Limitations in the existing literature include a lack of RCTs, small sample sizes, and heterogeneity in study designs. Despite numerous studies, robust evidence to guide PTB prevention in TTTS remains lacking, underscoring the urgent need for multicenter trials to optimize maternal and neonatal outcomes.</div></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":"104 ","pages":"Article 102689"},"PeriodicalIF":4.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145684982","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Hiba Mustafa , Francesco D'Antonio , Alena Tofte , Faezeh Aghajani , Meera A. Thiel , Anna Flood , Giorgio Pagani , Asma Khalil
{"title":"Diagnostic accuracy of prenatal ultrasound and MRI in predicting survival in severe isolated congenital diaphragmatic Hernia: A systematic review and meta-analysis","authors":"Hiba Mustafa , Francesco D'Antonio , Alena Tofte , Faezeh Aghajani , Meera A. Thiel , Anna Flood , Giorgio Pagani , Asma Khalil","doi":"10.1016/j.bpobgyn.2025.102687","DOIUrl":"10.1016/j.bpobgyn.2025.102687","url":null,"abstract":"<div><h3>Objective</h3><div>To investigate the predictive accuracy of the ultrasound-measured observed/expected (O/E) lung-to-head ratio (LHR) versus MRI-measured O/E total fetal lung volume (TFLV) in predicting postnatal survival in fetuses with an isolated congenital diaphragmatic hernia (CDH) undergoing expectant management.</div></div><div><h3>Methods</h3><div>A systematic review was conducted including studies reporting on the prognostic value of ultrasound-measured O/E LHR and MRI-measured O/E TFLV in predicting survival to hospital discharge in fetuses diagnosed with isolated CDH. Pregnancies undergoing fetal therapy were excluded. The overall accuracy was assessed by computing summary estimates of sensitivity, specificity, positive and negative likelihood ratios (LR+ and LR–), and diagnostic odds ratio (DOR), using the hierarchical summary receiver operating characteristics (HSROC) model. Synthetic analysis included studies in which the number of true-positive, false-positive, false-negative, and true-negative cases was available or deducible. We planned a subgroup analysis based on index test cut-offs and the side of CDH (left or right). Heterogeneity was assessed using Cochran's Q statistic.</div></div><div><h3>Results</h3><div>This systematic review included 33 studies comprising 1702 fetuses with isolated CDH published between 2000 and 2024. The meta-analysis included 18 studies encompassing 960 fetuses with ultrasound-measured O/E LHR and 742 fetuses with MRI-measured O/E TFLV. In the ultrasound studies, the pooled survival was 62 % compared to 68 % in the MRI studies. Both O/E LHR and O/E TFLV were significantly associated with survival (pooled O/E LHR 0.07, 95 % CI 0.04, 0.13; pooled O/E TFLV 0.09, 95 % CI 0.05, 0.17). In all severe CDH cases, both US and MRI appeared comparable. The O/E LHR had a pooled sensitivity of 72.2 % (95 % CI 64.9–78.4), specificity of 83.9 % (95 % CI 71.2–91.6), DOR of 13.5 (95 % CI 7.2–25.3), LR+ of 4.48 (95 % CI 2.5–8.0), and LR-of 0.33 (95 % CI 0.3–0.4). The O/E TFLV had a pooled sensitivity of 84 % (95 % CI 74.7 90.3), specificity of 62.5 % (95 % CI 45.5–76.8), DOR of 8.72 (95 % CI 3.4–22.4), +LR of 2.24 (95 % CI 1.4–3.5), and -LR of 0.26 (95 % CI 0.1–0.5). In the subgroup analysis of left-sided CDH, although the pooled sensitivity and DOR appeared higher using MRI, the 95 % CI overlapped: O/E LHR had a sensitivity of 73.6 (95 % CI 61.5–82.9), specificity 82.0 (95 % CI 63.8–92.2), DOR 12.7 (95 % CI 5.9–27.1), + LR 4.09 (95 % CI 2.0–8.2), and -LR 0.32 (95 % CI 0.2–0.5), while the O/E TFLV had sensitivity of 91.2 (95 % CI 79.7–96.5), specificity of 78.1 (95 % CI 65.3–87.1), DOR 37.1 (95 % CI 12.3–111.6), +LR 4.17 (95 % CI 2.5–6.9), and -LR 0.11 (95 % CI 0.04–0.3). While five studies investigated right-sided CDH in the ultrasound group, there was only one study in the MRI group. Seven studies included head-to-head comparison between prenatal ultrasound and MRI, of which the diagnostic accuracy appeared c","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":"104 ","pages":"Article 102687"},"PeriodicalIF":4.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145618347","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Assefa Desalew , Rafiki Nickson Mjema , Henk Schonewille , C. Ellen van der Schoot , Derek P. de Winter , Thomas van den Akker , Tadesse Gure , Jeremia Pyuza , Abera Kenay Tura , E.J.T. (Joanne) Verweij
{"title":"RhD alloimmunization in pregnancy and hemolytic disease of the fetus and newborn in Africa: A systematic review and meta-analysis","authors":"Assefa Desalew , Rafiki Nickson Mjema , Henk Schonewille , C. Ellen van der Schoot , Derek P. de Winter , Thomas van den Akker , Tadesse Gure , Jeremia Pyuza , Abera Kenay Tura , E.J.T. (Joanne) Verweij","doi":"10.1016/j.bpobgyn.2025.102700","DOIUrl":"10.1016/j.bpobgyn.2025.102700","url":null,"abstract":"<div><div>Although hemolytic disease of the fetus and newborn (HDFN), caused by maternal alloimmunization against fetal erythrocytes, has been nearly eliminated in high-income settings, it likely remains a significant public health problem in low-resource settings in Africa and elsewhere. We performed a comprehensive literature review across six major databases to determine the proportion of RhD-negativity, anti-D immunoprophylaxis utilization, RhD-alloimmunization prevalence, and the burden of RhD-mediated HDFN among pregnant women in Africa. A random-effects model was used to determine pooled estimates. We included 74 studies from 17 countries (42 from Nigeria), published between 1960 and 2024, involving 245,046 pregnancies, mostly from tertiary centers. The proportion of RhD negativity was 4.8 % (95 % CI: 4.1–5.7 %). The proven RhD alloimmunization rate was 5.8 % (95 % CI: 4.1–8.2 %). In multigravida women, the proportion of RhD alloimmunization was 5.7 % (95 % CI: 3.1–10.4 %). Anti-D immunoprophylaxis utilization after a previous pregnancy, reported in 18 studies (1490/3756 women), was 29.7 % (95 % CI: 18.0–45.0 %), with no effect on alloimmunization rate. Nine studies (including 50 neonates from 168 alloimmunized women) provided data on HDFN, with a pooled prevalence of 36.2 % (95 % CI: 16.8–61.4 %). In many papers, the specificity of the alloantibodies was not determined. Data on gravidity and the clinical definition of HDFN were incomplete. We conclude that there is a lack of robust data from Africa, thereby hampering HDFN prevention efforts. To eliminate HDFN in Africa, integrated strategies are urgently needed, including universal RhD typing and antibody screening, access to polyclonal anti-D immunoprophylaxis, and population-based surveillance.</div></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":"104 ","pages":"Article 102700"},"PeriodicalIF":4.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145776718","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Kyriaki-Barbara Papalois , Michail Sideris , Samuel George Oxley , Arjun Jeyarajah , Alexandra Lawrence , Elly Brockbank , Saurabh Phadnis , James Dilley , Ranjit Manchanda
{"title":"Borderline ovarian tumours: A comprehensive review of published evidence","authors":"Kyriaki-Barbara Papalois , Michail Sideris , Samuel George Oxley , Arjun Jeyarajah , Alexandra Lawrence , Elly Brockbank , Saurabh Phadnis , James Dilley , Ranjit Manchanda","doi":"10.1016/j.bpobgyn.2025.102688","DOIUrl":"10.1016/j.bpobgyn.2025.102688","url":null,"abstract":"<div><div>Borderline Ovarian Tumours (BOTs) comprise 15–20 % of all epithelial ovarian tumours. BOTs are characterised by increased mitotic activity but lack infiltrative destructive growth and stromal invasion. Several dilemmas and controversies have been discussed in the literature regarding BOT management including surgical approach (radical versus fertility-sparing surgery), surgical route (open versus laparoscopic surgery) and impact on disease recurrence, follow-up protocols/modalities (imaging, serum biomarkers), role of completion surgery, lymph node dissection during staging, adjuvant chemotherapy, as well as use of Hormone-Replacement Therapy (HRT) post-surgery. We performed a structured narrative review on Medline and Cochrane Library Databases to identify studies pertaining to the management of BOTs. Identifying areas of agreement and outstanding uncertainty are integral to optimise robust treatment regimens for BOT management and improve the Quality of Life (QoL) and clinical outcomes for patients. We discuss a framework of recommendations to counsel, manage and follow-up women diagnosed with BOT.</div></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":"104 ","pages":"Article 102688"},"PeriodicalIF":4.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145684983","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Roland Devlieger , Simen Vergote , Emma Van den Eede , Kobe Haenen , Liesbeth Lewi
{"title":"Intrauterine transfusion: Best practices, techniques, and evolving trends","authors":"Roland Devlieger , Simen Vergote , Emma Van den Eede , Kobe Haenen , Liesbeth Lewi","doi":"10.1016/j.bpobgyn.2025.102686","DOIUrl":"10.1016/j.bpobgyn.2025.102686","url":null,"abstract":"<div><div>Intrauterine transfusion (IUT) remains the cornerstone of treatment for severe fetal anemia, particularly due to red blood cell alloimmunization, and is increasingly utilized in select non-immune conditions such as complicated monochorionic twins and parvovirus B19 infection. This narrative review provides a comprehensive overview of current best practices and recent developments in IUT therapy, including indications, diagnostic strategies, procedural techniques, outcomes, and emerging trends. Evidence-based guidelines, multicenter cohort studies, and expert consensus statements were reviewed, with particular attention to diagnosis and management of fetal anemia, procedural safety, timing, transfusion strategy, and center-level practices. The introduction of ultrasound-guided intravascular transfusion via the intrahepatic vein or placental cord insertion has markedly reduced procedure-related risks, resulting in survival rates exceeding 85 % in most settings and favorable long-term outcomes. Despite these advances, challenges persist for early gestational interventions and recurrent transfusions. Overall, IUT is a highly effective intervention for fetal anemia when performed in specialized centers with multidisciplinary expertise.</div></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":"104 ","pages":"Article 102686"},"PeriodicalIF":4.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145584180","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Sexting in adolescent girls: A new way of self-expression? A scoping review","authors":"Aniek Peters , Eveline J. Roos","doi":"10.1016/j.bpobgyn.2026.102704","DOIUrl":"10.1016/j.bpobgyn.2026.102704","url":null,"abstract":"<div><div>Sexting is defined as the exchange of sexually explicit or suggestive messages and images through digital platforms. Significant attention has been given to potential risks, although little is known about the role in sexual identity development. Therefore, this scoping review aims to examine the prevalence of sexting among adolescent girls and explore the positive developmental functions, including self-expression.</div><div>Eligibility criteria were adolescent girls aged 10–19 years, who examined sexting as the exchange of sexually explicit or suggestive digital content, and employed empirical methodologies. A systematic search was conducted in PubMed, PsycINFO, and Web of Science.</div><div>Seven studies were included. The reviewed studies reported a prevalence rate from 3 % to 70 %. Sexting contributes positively to adolescent psychosocial, emotional, relational, and sexual development and forms a sexual identity. A clear understanding of sexting is crucial for developing educational programs that address both the challenges and the developmental potential in adolescent girls.</div></div>","PeriodicalId":50732,"journal":{"name":"Best Practice & Research Clinical Obstetrics & Gynaecology","volume":"104 ","pages":"Article 102704"},"PeriodicalIF":4.1,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146020546","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}