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Background: Placental mesenchymal dysplasia (PMD) is a rare placental vascular malformation of unknown etiology. PMD may coexist with a healthy fetus, and its ultrasound appearance is similar to that of a hydatidiform mole, especially the partial type. Prenatal ultrasonography is vital for accurate diagnosis of these conditions. This study aimed to summarize the characteristics of prenatal ultrasonographic images across different gestational weeks (W) for PMD and evaluate and analyze factors that influence pregnancy outcomes related to PMD. The goal is to improve the diagnosis of PMD, effectively assess fetal prognosis, and provide a reference for prenatal consultations and clinical management. Case Description: Of the 15 included patients, 4, 8, and 3 had PMD in early pregnancy (<13+6 W), mid-pregnancy (approximately 14-27+6 W), and late pregnancy (>28 W), respectively. Among the 15 patients, 5 successfully underwent delivery, thereby resulting in fetal survival; 3 experienced intrauterine death, 1 had a miscarriage, and 6 pregnancies were terminated. During early pregnancy, ultrasonographic manifestations of PMD included microscopic anechoic cystic areas in the placental parenchyma. In the second trimester, the placenta exhibited diffuse enlargement and thickening, with the placental parenchyma showing cellular anechoic cystic areas clearly separated from the surrounding normal placental tissue. As the pregnancy progressed, the cystic areas gradually reduced in the third trimester. Additionally, localized umbilical blood vessels showed tumorous lesions, sometimes accompanied by intravascular thrombosis. Some cases exhibited tortuosity and dilation in the umbilical vein. Conclusions: PMD exhibited varying ultrasonographic characteristics across different gestational stages and demonstrated regular disease evolution corresponding to gestational W. This condition is associated with adverse pregnancy outcomes, with the location, extent, and severity of lesions being crucial factors affecting fetal development in utero.

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Worldwide incidence rates of gestational trophoblastic disease (GTD) are difficult to estimate and compare due to large methodological differences within and between countries. Asia has generally reported higher incidence rates than Europe and North America, but modern reports have demonstrated a temporal decrease of GTD incidence rates in Asia and an increase in some European countries and North America. The main risk factors for hydatidiform mole are maternal age and previous molar events. Future studies on the epidemiology of GTD should include gestational trophoblastic neoplasia and international collaborative studies on this rare disease should be encouraged.

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Complete and partial molar pregnancies arise from abnormal fertilization with marked proliferation of syncytiotrophoblasts. Earlier diagnosis has reduced the frequency of severe medical complications at presentation; however, the risk of progression to gestational trophoblastic neoplasia (GTN) has remained unchanged. Initial assessment should include serum hCG measurement after physical examination, laboratory testing for organ dysfunction, and Doppler ultrasound. Following uterine evacuation, pathologic assessment can distinguish complete from partial moles or non-molar gestations. Close surveillance is essential for the timely diagnosis of GTN. Cure rates and subsequent obstetrics outcomes are excellent, but all patients should be referred for psychologic support and expert level care.

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This case report presents the association of a chorionic bump with a partial mole pregnancy in a 37-year-old G3P2 woman. The differential diagnosis of a partial mole was considered after transvaginal ultrasonography revealed a chorionic bump. Subsequent pathological analysis confirmed the diagnosis. While the etiology of the chorionic bump remains dubious, we hypothesize an alternative explanation for chorionic bump formation based on the presence of three unique pathological features: necrosis, edema, and hemorrhage.

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Invasive hydatidiform mole, a form of gestational trophoblastic neoplasm in reproductive-age women, poses a significant threat to life due to its associated signs and symptoms. This case report details the management of a 24-year-old Chinese woman with no prior pregnancy history, who presented at our hospital 23 days postcurettage, experiencing persistent vaginal bleeding for 3 days. While two rounds of chemotherapy effectively reduced human chorionic gonadotropin levels, a subsequent magnetic resonance imaging (MRI) revealed suspicious growth lesions in the uterus. High-intensity focused ultrasound (HIFU) treatment was administered under ultrasound guidance, resulting in notable grayscale changes to optimize the efficacy of chemotherapy and restrict lesion progression. Subsequent ultrasound and MRI assessments during follow-up demonstrated a transparent texture in the muscle layer at the lesion site. This case suggests that the combination of chemotherapy and HIFU, guided by ultrasound, may represent a promising therapeutic approach for managing invasive hydatidiform mole.

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Gestational trophoblastic diseases (GTDs) encompass a spectrum of conditions characterized by abnormal trophoblastic cell growth, ranging from benign molar pregnancies to malignant trophoblastic neoplasms. This systematic review explores the molecular underpinnings of GTDs, focusing on genetic and epigenetic factors that influence disease progression and clinical outcomes. Based on 71 studies identified through systematic search and selection criteria, key findings include dysregulations in tumor suppressor genes such as p53, aberrant apoptotic pathways involving BCL-2 (B-cell lymphoma), and altered expression of growth factor receptors and microRNAs (micro-ribose nucleic acid). These molecular alterations not only differentiate molar pregnancies from normal placental development but also contribute to their clinical behavior, from benign moles to potentially malignant forms. The review synthesizes insights from immunohistochemical studies and molecular analyses to provide a comprehensive understanding of GTD pathogenesis and implications for personalized care strategies.

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Background: Ectopic molar pregnancy (EMP) is a rare form of gestational trophoblastic disease that occurs when a hydatidiform mole implants outside the uterus. Case Presentation: We describe a 35-yr-old woman with mild abdominal pain, delayed menstruation for 2 months, and high beta-human chorionic gonadotropin levels. Sonography revealed a heterogeneous hyperechoic mass in the left adnexa and fluid in the endometrial cavity, suggestive of a tubal EMP. She underwent endometrial curettage and left salpingectomy. Pathology confirmed the diagnosis of invasive hydatidiform mole/left tubal EMP. The case recovered well and had no complications. Conclusion: This case highlights the need for early diagnosis and multidisciplinary treatment of EMP to avoid serious consequences from persistent trophoblastic tumors.

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Gestational trophoblastic disease (GTD) comprises hydatidiform mole, invasive mole, epithelioid trophoblastic tumor, placental site trophoblastic tumor, and choriocarcinoma. Ectopic molar gestation (EMG) is exceedingly rare with similar malignant potential like that of an intrauterine molar pregnancy. We report an uncommon case of EMG diagnosed by ultrasonography (USG) with a brief literature review. A 36-year-multipara presented at 8-weeks gestational age with severe abdominal pain and spotting. She underwent a spontaneous abortion 4 months back. Current transabdominal USG revealed a large right adnexal hydatidiform mole with moderate hemoperitoneum. Right ovary could not be discerned separately. Emergency laparotomy with hysterectomy and right adnexal clearance was done. Histopathology showed complete ectopic hydatidiform mole. USG remains the modality of choice for initial assessment of suspected GTD and it allows reliable evaluation of residual or recurrent disease. This report emphasizes the role of USG in the diagnosis of EMG and also, the importance of including EMG in the differential diagnosis of suspected ectopic pregnancy.

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OBJECTIVE: A complete hydatidiform mole (CHM) is a common disease and is known to develop post-molar gestational trophoblast neoplasia (GTN). However, the molecular mechanisms underlying the progression of CHM to post-molar GTN remain largely unknown. In this study, we investigated the molecular factors associated with the progression using RNA-seq. METHODS: We included 13 patients with CHM and performed RNA-seq using freshly frozen samples. We identified differentially expressed genes between patients who developed GTN (GTN group) and those who achieved spontaneous remission after uterine evacuation (SR group), and performed pathway analysis. Then, functional analyses were performed on choriocarcinoma (JAR and JEG-3) and CHM (Hmol1-3B and Hmol1-2C) cells. Moreover, we evaluated the in vivo tumorigenicity of XBP1-overexpressed Hmol1-3B cells. RESULTS: The gene expression profiles were separated into two groups, and an upstream regulator analysis was performed using 281 differentially expressed genes. We focused on transcription factors and identified that 33 transcription factors were activated in the GTN group. Then, excluding those with low expression levels in clinical samples and cell lines, XBP1 was selected for further analysis. Additionally, XBP1 downregulation significantly decreased the migration and invasive abilities of choriocarcinoma cells, whereas XBP1 overexpression significantly increased the migration and invasive abilities of CHM cells. Furthermore, animal experiments showed that tumor weight and blood human chorionic gonadotropin (hCG) levels were significantly higher in the XBP1-overexpressing Hmol1-3B-bearing mice than those in the control mice. CONCLUSION: RNA-seq identified XBP1 as a key factor in post-molar GTN, suggesting it contributes to the development of post-molar GTN.

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Hydatidiform moles, including both complete and partial moles, constitute a subset of gestational trophoblastic diseases characterized by abnormal fertilization resulting in villous hydrops and trophoblastic hyperplasia with or without embryonic development. This involves chromosomal abnormalities, where one or two sperms fertilize an empty oocyte (complete hydatidiform mole (CHM); mostly 46,XX) or two sperms fertilize one oocyte (partial hydatidiform mole (PHM); mostly 69,XXY). Notably, recurrent occurrences are associated with abnormal genomic imprinting of maternal effect genes such as NLRP7 (chromosome 19q13.4) and KHDC3L (chromosome 6q1). Ongoing efforts to enhance identification methods have led to the identification of growth-specific markers, including p57 (cyclin-dependent kinase inhibitor 1C; CDKN1C), which shows intact nuclear expression in the villous cytotrophoblast and villous stromal cells in PHMs and loss of expression in CHMs. Treatment of hydatidiform moles includes dilation and curettage for uterine evacuation of the molar pregnancy followed by surveillance of human chorionic gonadotropin (HCG) levels to confirm disease resolution and rule out the development of any gestational trophoblastic neoplasia. In this review, we provide a synopsis of the existing literature on hydatidiform moles, their diagnosis, histopathologic features, and management.

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Hydatidiform mole coexistent with a live fetus (CMCF) is a rare entity occurring in 1:20,000 to 1:100,000 pregnancies. Three mechanisms of this type are possible: (1) a singleton pregnancy consisting of partial mole with a triploid fetus, (2) a twin gestation consisting of an androgenic complete hydatidiform mole with a biparental diploid fetus, and (3) a twin gestation consisting of a biparental diploid fetus with a normal placenta and a partial hydatidiform mole (PHM) with a triploid fetus. The abnormal triploid fetus in a partial mole tends to die in the first trimester while the fetus coexisting with a complete or partial mole in the dizygotic twin pregnancy has a chance to survive. Early detection and diagnosis of a molar gestation with a viable fetus is needed to allow medical interventions, if available. Three cases of complete mole with a twin fetus (CMTF) that were diagnosed in the prenatal period by ultrasonography will be presented. This report will also discuss the indications for continuing the pregnancy, and review the literature on the recommended prenatal care, intrapartum management, and postpartum surveillance. This report aims to encourage others to document cases of CMTF in order to arrive at a consensus regarding its optimal management.

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To retrospectively analyze the fertility outcomes and prognosis of gestational trophoblastic disease (GTD) patients, providing a basis for targeted fertility guidance and counseling. 82 GTD patients of childbearing age who received treatment at the Obstetrics and Gynecology Department of Lanzhou University First Hospital from January 2016 to January 2023 were stratified into re-pregnancy (n = 20) and non-re-pregnancy (n = 33) cohorts based on their pregnancy outcomes. The impacts of various factors on pregnancy outcomes were subsequently evaluated, encompassing the rates of subsequent pregnancies, live births, miscarriages, ectopic pregnancies, and ongoing pregnancies. Finally, logistics regression model was employed to analyze the risk factors affecting re-pregnancy in GTD patients. The study delineated those patients with different GTD pathologies had varying re-pregnancy rates (mole, erosive mole and choriocarcinoma accounted for 66.04%, 30.19% and 3.77%, respectively). Treatment predominantly involved uterine curettage, with fewer cases receiving chemotherapy alone or in conjunction with curettage accounted for 67.92%, 5.66%, and 26.42%, respectively. The average chemotherapy frequency was 4.59 ± 2.43 sessions, and a majority sought reproductive counseling. Re-pregnancy occurred in 37.74% of patients. The live birth rate was 65.00%, with miscarriage and ectopic pregnancy rates at 25.00% and 5.00% respectively. Logistic regression analysis pinpointed the absence of pre-pregnancy counseling as a significant independent risk factor for re-pregnancy in GTD patients (p < 0.05). While chemotherapy may influence ovarian function, with the majority of patients desiring children post-recovery, pregnancy rates remain high. Fertility counseling significantly enhances re-pregnancy success rates in GTD survivors, emphasizing its recommendation for those aiming to conceive post-recovery.

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We herein report a rare case of simultaneous intrauterine molar pregnancy and tubal pregnancy. A woman of childbearing age who had never been pregnant underwent an ultrasound examination 70 days after the onset of menopause. She had a history of ovulation induction. The ultrasound findings suggested a partial hydatidiform mole. She was then pathologically confirmed to have a complete hydatidiform mole after uterine suction dilation and curettage. On postoperative day 4, an ultrasound examination before discharge showed an inhomogeneous mass in the left adnexal region with mild lower abdominal pain. On postoperative day 17, the blood human chorionic gonadotropin level did not drop as expected, and a follow-up examination still indicated a mass in the left adnexal region. We were unable to rule out an ectopic hydatidiform mole. Hysteroscopy with laparoscopic exploration of the left adnexal mass and salpingotomy suggested a diagnosis of intrauterine hydatidiform mole combined with left tubal pregnancy.

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Objective: To compare the age-specific clinical features of molar pregnancy and to describe the risk factors associated with this situation. Method: This retrospective case-control study was conducted at the Department of Obstetrics and Gynecology. Tepecik Education and Research Hospital, Izmir, Turkey. The participants included both adolescents (≤ 19 years) and adults with histologically confirmed hydatidiform moles in our institution between January 2015 and January 2022. The interventions and main outcome measures of this study involved evaluating the clinical and ultrasonographic features, as well as the risk factors, associated with molar pregnancies in adolescents. Results: This study of 137 patients with molar pregnancy found that adults had a higher incidence of partial molar pregnancy (20 patients versus seven patients) and lower beta-hCG levels than adolescents (176.890.71 mIU/ml versus 253.734.47 mIU/ml). Adolescents had a higher likelihood of hyperthyroidism (25.4% versus 9.2%). bleeding on admission (4.2% versus 1.51%),. longer hospital stays (5.44 ± 2.73 days versus 3.59 ± 3.08 days). Higher rates of uterine enlargement and postoperative bleeding (15.5% versus 1.5%). Adolescents also required more analgesia (97% versus 89.4%). Conclusions: Adolescents with Gestational trophoblastic diseases (GTD) may present with more severe symptoms compared to adults, which can lead to delayed diagnosis and treatment. Further research is needed to better understand the underlying mechanisms and risk factors for GTDs in this population. Increased awareness and education can help improve recognition and management of GTDs in adolescents and improve their overall health outcomes.

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BACKGROUND: This case describes the youngest patient documented in the literature who presented with a giant hydatidiform mole, effectively addressed through conservative treatment. CASE PRESENTATION: Our department received a 20-year-old Caucasian patient who was admitted due to significant metrorrhagia in an undisclosed pregnancy. During examination, we identified a massive, highly vascularized hydatidiform mole measuring 22 cm (cm). We performed a surgical dilatation and curettage. The anatomopathological findings confirmed the presence of a complete hydatidiform mole (CHM). Following the established guidelines, we conducted weekly monitoring of human chorionic gonadotropin (hCG). Unfortunately, the patient discontinued the follow-up and became pregnant again before achieving hCG negativation. CONCLUSION: This case suggests that conservative treatment is a viable option regardless of the size of gestational trophoblastic disease (GTD), especially when the preservation of fertility is a crucial consideration, as effectively demonstrated in our case.

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Introducción: La enfermedad trofoblástica gestacional (ETG) corresponde al espectro de lesiones proliferativas del tejido trofoblástico placentario. Presenta una incidencia mundial variable; en Chile no existen estudios nacionales, por lo que las cifras se deben extrapolar de estudios extranjeros. Objetivo: Caracterizar clínica y epidemiológicamente a las pacientes diagnosticadas con embarazo molar en el periodo 2013-2022 en el Hospital Regional de Talca (HRT). Método: Estudio observacional transversal, se consideró el recuento total de pacientes de la base de datos del Servicio de Onco-Ginecología (n = 100) y la cantidad de embarazos ocurridos entre 2013-2022 en el HRT. Resultados: La edad promedio de presentación fue de 32 años, obteniéndose una incidencia de ETG de 2,1 casos por cada 1.000 embarazos. El 54% de los casos corresponde a mola parcial. Los principales síntomas fueron metrorragia (67%) y dolor abdominal (40%). El principal tratamiento efectuado fue aspiración uterina (92%). En el 48% de los casos se sospechó la ETG con la clínica previo al diagnóstico por biopsia y solo en un 13% únicamente con estudio ecográfico. Conclusiones: Es necesario realizar más investigaciones nacionales que permitan recopilar información actualizada sobre ETG, sobre todo por la variabilidad clínica de la enfermedad, que hace difícil su sospecha diagnóstica.

Introduction: Gestational trophoblastic disease (GTO) corresponds to the spectrum of proliferative lesions of placental trophoblastic tissue. It has a variable global incidence; in Chile there are no national studies so it must be extrapolated from foreign studies. Objective: To clinically and epidemiologically characterize patients diagnosed with molar pregnancy in the period 2013-2022, at the Talca Regional Hospital (HRT). Method: Cross-sectional observational study, the total count of patients from the Onco-Gynecology Service database (n = 100) and the number of pregnancies that occurred between 2013-2022 in the HRT were considered. Results: The average age of presentation was 32 years, obtaining an incidence of GTO of 2.1 cases per 1000 pregnancies; 54% of cases correspond to partial mole. The main symptoms were metrorrhagia (67%) and abdominal pain (40%). The main treatment performed was uterine aspiration (92%). In 48% of the cases, GTO was suspected with clinical symptoms prior to diagnosis by biopsy, and only 13% with an ultrasound study alone. Conclusions: It is necessary to carry out more national research to collect updated information on GTO, especially due to the clinical variability of the disease that makes its diagnostic suspicion difficult.

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Accurately interpreting persistent, low human chorionic gonadotropin (hCG) levels is essential for managing gestational trophoblastic disease. Erroneous interpretation can lead to inappropriate interventions, including unnecessary chemotherapy or hysterectomy, or unjustified changes in chemotherapeutic regimens due to misidentification of a false-positive hCG as a true positive. The predominant etiology of phantom hCG is the presence of heterophilic antibodies. Consequently, screening for urine hCG is indispensable for its diagnosis because immunoglobulin is not generally present in urine. Here, we report about phantom hCG after a complete hydatidiform mole. Initial urine hCG evaluations were negative, although the serum hCG levels remained positive, leading to the diagnosis of phantom hCG. After subsequent delivery, urine hCG levels persisted at diminished levels. However, a different assay yielded negative hCG results for both serum and urine samples. The patient subsequently gave birth. The absence of hCG was consistently confirmed over five years.

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Accurate diagnosis of partial hydatidiform moles (PHMs) is crucial for improving outcomes of gestational trophoblastic neoplasia. The use of short tandem repeat (STR) polymorphism analysis to distinguish between PHM and hydropic abortuses is instrumental; however, its diagnostic power has not been comprehensively assessed. Herein, we evaluated the diagnostic efficacy of STR in differentiating between PHM and hydropic abortus, thus providing an opportunity for early measurement of human chorionic gonadotropin for PHMs. We reviewed charts of STR polymorphism analysis performed on fresh villous specimens and patient blood samples using a commercial kit for 16 loci. The genetic classification of 79 PHMs was confirmed. STR was reliable in differentiating PHMs when at least 15 loci were available. Typically, PHMs are characterized by their triploidy, including two paternal and one maternal haploid contribution. In our sample, seven PHMs lacked the three-allelic loci, requiring fluorescence in situ hybridization (FISH) analysis to investigate imbalanced biparental conceptus and single-nucleotide polymorphism array analysis to reveal cytogenetic details. Of these PHMs, two, three, and one were identified as androgenetic/biparental mosaics (diploids), monospermic diandric monogynic triploids, and a typical dispermic diandric monogynic triploid, respectively. The remaining case was monospermic origin, but its ploidy details could not be available. Therefore, STR differentiated PHM from a biparental diploid abortus in most cases. However, PHM diagnosis may be compromised when STR is used as the sole method for cases displaying distinct cytogenetic patterns lacking the three-allelic loci, including androgenetic/biparental mosaicism. Therefore, FISH should be considered to confirm the diagnosis.

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Background: The occurrence of hydatidiform mole at the cesarean scar site is a rare problem. Few cases have been reported, thus there is not enough information for accurate diagnosis and management of this event. Case Presentation: Herein, we present 2 cases of an invasive hydatidiform mole embedded in cesarean scar tissue, one presented with occasional hypogastric pain and nausea and another with spotting both with a history of cesarean section. Transvaginal ultrasonography and a considerably high titer of beta-human chorionic gonadotropin blood test suggested the existence of molar pregnancy on the cesarean scar, which was confirmed through histological assessment. In the first case, evacuation of molar pregnancy followed by scar resection at the cesarean scar site led to successful fertility preservation management. Conclusion: The presence of abdominal pain and unexplained bleeding in a pregnant woman without gestational sac in ultrasonography, strongly suggests ectopic pregnancy. The process of diagnosis should be followed by definitive diagnostic evaluation, including beta-human chorionic gonadotropin titer measurement, ultrasonographic assessment (2 and 3-dimensional), magnetic resonance imaging, diagnostic laparoscopy, and finally biopsy of the lesion.

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Point of care ultrasound (POCUS) is a useful modality to initially identify a molar pregnancy. In this case, we describe a 51-year-old perimenopausal woman who presented to the emergency department (ED) with vaginal bleeding. A transvaginal POCUS was performed, revealing findings concerning for a molar pregnancy. These findings led to prompt diagnosis and treatment.