Rare Condition Research Articles

Caesarean scar endometriosis: how to make an accurate diagnosis.

Caesarean scar endometriosis is a rare condition characterised by the presence of endometrial tissue within a surgical scar following a caesarean section. A woman in her late 30s presented with a painful lump beneath her caesarean section skin scar, worsening during menstruation. Despite a previous incision and drainage procedure for a 'scar abscess', the symptoms persisted. Ultrasound imaging revealed a cystic lesion beneath the scar. A diagnosis of scar endometriosis was made, and surgical excision was performed. The patient remained symptom-free at 2-year follow-up postsurgery. Histopathology confirmed the presence of endometrial glands and stroma within the scar tissue. This case demonstrates that a reliable diagnosis of caesarean section endometriosis could be made with a triad of symptoms of a cyclic painful mass at the site of a caesarean section scar. Imaging is helpful in excluding other differential diagnoses. Diagnosis can be confirmed with histopathology and treated with complete surgical excision.

Self-Management and Relationships: Perspectives of Young Adults With Chronic Conditions and Their Peers.

Because their disease is largely managed in the private environment, people with chronic conditions perform "chronic homework." The environment with which self-management is coordinated forms a kind of "chronic care infrastructure" in dealing with the disease and, in the case of young adults with chronic conditions (YACCs), is essentially formed by peers. The article investigates how YACCs handle their illness in the context of their peer relationships and how peers see their own role in the context of the YACCs' self-management. What do chronic homework and chronic care infrastructures look like, if the chronic conditions concern young adults in comparatively unstable and non-committal relationships with their peers? Episodic interviews were conducted with 60 YACCs (with type 1 diabetes, cancer, chronic inflammatory bowel disease, and rare conditions) and 30 peers. The interviews were analyzed using thematic coding. The YACCs' statements were compared to the peer perspectives on a case-by-case basis. We found that peers differ in the extent to which they seek to monitor or control the YACCs' self-management. We identified three groups of YACCs: (a) those who focus on their health needs; (b) those who seek to balance their disease management with their need for sociability and belonging; and (c) those who deprioritize their illness in their everyday life in favor of peer acceptance. The multi-perspective approach to YACCs' and their peers' experiences with self-management on the one hand and referring to a range of chronic conditions on the other allows to analyze this issue in a complex and comprehensive way.

Childhood Heart Tumors: Detection, Diagnosis, and Treatments

: Childhood cardiac tumors are rare but challenging conditions that can have a significant impact on a child’s health and even be fatal if not detected and diagnosed timely. While various types of tumors can occur in the heart, the most common among children are benign tumors, such as rhabdomyomas. Diagnosis of pediatric cardiac tumors is often challenging and requires a combination of clinical examination, imaging studies and biopsy. In some cases, the tumors may be asymptomatic and discovered incidentally, while in others, they can cause symptoms, such as shortness of breath, chest pain, arrhythmias and congestive heart failure. Treatment options for pediatric cardiac tumors vary depending on the type, size and location of the tumor and may include surgical resection, watchful waiting or a combination of both. The prognosis for children with cardiac tumors is generally good, with a high rate of complete cure in many cases. However, long-term follow-up and monitoring are important to detect and manage any potential complications or recurrence of the tumors.

Renal nutcracker syndrome presenting with varicocele: A case series

Introduction and importanceNutcracker syndrome (NCS) is a rare condition characterized by left renal vein compression and presents with diverse clinical manifestations. This case series study aims to evaluate the clinical presentations and outcomes of patients with NCS and varicocele. Case presentationWe reviewed the cases of four male patients, aged 15 to 19 years, who presented with recurrent and grade 3 varicocele after varicocelectomy. All patients reported pain in the hypogastric, flank, or groin areas. Despite the absence of hematuria, NCS was diagnosed based on duplex ultrasound and contrast-enhanced computed tomography (CT) scans. Patients underwent open surgical interventions, including gonadal vein transposition or saphenous vein bypass. Clinical discussionThe absence of hematuria in these cases poses a diagnostic challenge, as current diagnostic criteria for NCS relies on its presence. Our findings underscore the need to consider NCS in patients with varicocele, even in the absence of hematuria. Surgical interventions were effective in resolving the symptoms. After NCS surgery, the varicocele in one patient resolved, and three patients underwent varicocelectomy successfully without recurrence throughout the recovery period. ConclusionThis case series highlights the diagnosis of NCS presenting with varicocele and local pain without hematuria, emphasizing the need for improved diagnostic and management approaches.

Outcomes of patients with acute liver failure not listed for liver transplantation: A cohort analysis.

Acute liver failure (ALF) is a rare condition leading to morbidity and mortality. Liver transplantation (LT) is often required, but patients are not always listed for LT. There is a lack of data regarding outcomes in these patients. Our aim is to describe outcomes of patients with ALF not listed for LT and to compare this with those listed for LT. Retrospective analysis of all nonlisted patients with ALF enrolled in the Acute Liver Failure Study Group (ALFSG) registry between 1998 and 2018. The primary outcome was 21-day mortality. Multivariable logistic regression was done to identify factors associated with 21-day mortality. The comparison was then made with patients with ALF listed for LT. A total of 1672 patients with ALF were not listed for LT. The median age was 41 (IQR: 30-54). Three hundred seventy-one (28.9%) patients were too sick to list. The most common etiology was acetaminophen toxicity (54.8%). Five hundred fifty-eight (35.7%) patients died at 21 days. After adjusting for relevant covariates, King's College Criteria (adjusted odds ratio: 3.17, CI 2.23-4.51), mechanical ventilation (adjusted odds ratio: 1.53, CI: 1.01-2.33), and vasopressors (adjusted odds ratio: 2.10, CI: 1.43-3.08) (p < 0.05 for all) were independently associated with 21-day mortality. Compared to listed patients, nonlisted patients had higher mortality (35.7% vs. 24.3%). Patients deemed not sick enough had greater than 95% survival, while those deemed too sick still had >30% survival. Despite no LT, the majority of patients were alive at 21 days. Survival was lower in nonlisted patients. Clinicians are more accurate in deeming patients not sick enough to require LT as opposed to deeming patients too sick to survive.

Three Cases of Medullary Arachnoiditis Ossificans, A Rare Condition and Comprehensive Review

Three Cases of Medullary Arachnoiditis Ossificans, A Rare Condition and Comprehensive Review

Stone Babies: A Pictorial Essay With Insights From 25 Museal Lithopaedions.

Lithopaedion, or "stone baby," represents an exceptionally rare clinical phenomenon with fewer than 350 documented cases existing in the medical literature. This condition arises when an advanced extrauterine pregnancy ceases its developmental trajectory and undergoes a lithification process, potentially resulting in a calcified mass with fetal-like morphology. Typically, lithopaedions remain asymptomatic for decades, but may occasionally elicit acute symptoms necessitating medical intervention. However, predominantly, these entities are incidental findings discovered during radiological examinations or autopsies. In this article, we present a comprehensive overview of 25 lithopaedion cases, including unreported cases from several European medical museums. When feasible, additional radiological imaging was conducted to enhance diagnostic clarity. Furthermore, this article situates lithopaedions within a broader historical perspective and a detailed etiopathogenetic framework, elucidating the physiological and pathological mechanisms contributing to their formation. The phenomenon of lithopaedion is a testimony to the complex and often enigmatic nature of the human body. By compiling and scrutinizing a substantial number of cases, this review offers valuable insights into the clinical implications of lithopaedions. Furthermore, it highlights the necessity for ongoing research and meticulous documentation of rare medical conditions like this, in order to contribute to a deeper understanding of extraordinary phenomena.

LEFT VENTRICULAR NON COMPACTION CARDIOMYOPATHY ASSOCIATED WITH MITRAL VALVE PROLAPSE

Left ventricular non compaction (LVNC) is a rare condition characterized by prominent ventricular trabeculations and intertrabecular recesses,Mitral regurgitationwhen present is usually a result of annular dilation, mitral valve prolapse due to chordae tendinae rupture is quite rare.We present the case of a 48 year old male with no medical history who presented with worsening exertional dyspnea classified as NYHA class III. The physical examination found a systolic murmur heard at the apex. Transthoracic echocardiography and cardiac magnetic resonance confirmed the diagnosis of Left ventricular non compaction associated with posterior mitral valve prolapse with severe mitral regurgitation and preserved ventricular function who was successfully operated and found asymptomatic during the follow up.

Persistent renal dysfunction post-chemotherapy: a diagnostic conundrum in pediatric cancer survivorship – a case report

BackgroundLate-onset type II Bartter syndrome is an exceedingly rare condition, with only six documented cases presenting symptoms and signs beyond infancy. We report a unique case of late-onset type II Bartter syndrome with an atypical presentation and clinical course following chemotherapy treatment during childhood.Case presentationA 10-year-old boy, diagnosed with hepatoblastoma at age 2 and treated with cisplatin and epirubicin, presented with polyuria, polydipsia, failure to thrive, and electrolyte imbalances. He exhibited hypokalemia, metabolic alkalosis, and elevated urinary excretion of sodium, chloride, calcium, and magnesium. Whole exome sequencing and Sanger sequencing identified compound heterozygous variants in the KCNJ1 gene, confirming the diagnosis of type II Bartter syndrome. The patient’s clinical presentation was distinct from previously reported cases, with an absence of nephrocalcinosis, unusually small and hyperechoic kidneys, and a substantial decline in kidney function. Treatment included oral potassium supplementation, spironolactone, and angiotensin-converting enzyme inhibitors.ConclusionsThis case highlights the importance of considering late-onset Bartter syndrome in patients with a history of chemotherapy presenting with persistent electrolyte imbalances and ongoing renal dysfunction. The atypical features and rapid progression of chronic kidney disease in this patient may be attributed to the deleterious nature of the identified variants and the potential impact of previous chemotherapy on kidney susceptibility to damage. Careful monitoring and management of electrolyte imbalances and renal function are crucial in such cases.

A case report of bilateral psoas abscess with co-existing gluteal abscess in Pott`s disease of the spine in a middle-aged woman in a Specialist Hospital

Psoas abscess (PA) is the buildup of suppurative fluid in the fascia surrounding the psoas/iliopsosas muscle, is a rare condition, with diagnostic difficulty. Pott`s disease also called spinal tuberculosis occurs due to extra pulmonary tuberculosis. Backpain, fever, weight loss, lump in the groin and limping are its main symptoms. Curable by administering antitubercular therapy and sensitive antimicrobials with analgesics for indicative relief. Surgical procedures can be carried out to eliminate the accrued fluid based on the inter individual degree of presentation. In this case report, we report a rare case of bilateral psoas abscess with co-existing gluteal abscess and Potts’s disease. A 48-year old female presented with complaints of backpain, limping, lump in the flank/buttock and fever of two weeks. Abdominopelvic computed tomography scan showed massive right iliopsoas muscle collection with extension into the ipsilateral gluteal region and subcutaneous tissue. Similar collection was seen in the left psoas muscle superiorly. The bone window of the lumbosacral spine showed the anterior wedged collapse of the vertebral bodies with gibbus deformity. The patient had spontaneous rupture of the gluteal collection and surgical drainage of the right iliopsoas and left psoas collection was done. Anti-Kochs therapy was commenced and patient is currently doing great. The introduction of computed tomography (CT) and magnetic resonance imaging (MRI) has greatly improved the diagnosis of psoas abscess with Pott`s disease or in its isolated forms.

Splenic abscess: treatment options in a disease with high mortality

BackgroundSpleen abscess is a rare and serious condition. Splenectomy and imaging-guided percutaneous catheter drainage (PCD) are the methods used in the treatment, but there is still a debate about the appropriate treatment for the patient.MethodsThe results of 16 patients treated for spleen abscesses in our clinic between 2012 and 2021 were reviewed. The patients were divided into two groups according to splenectomy and PCD.ResultsIn the study, PCD was performed in 11 patients (68.75%), but three of these patients required splenectomy due to inadequate drainage. The patients who underwent splenectomy were significantly younger than the patients who underwent PCD (p < 0.05). One patient underwent PCD and 2 patients underwent splenectomy after PCD died.ConclusionSpleen abscess is a serious clinical picture that requires a multidisciplinary approach and is life-threatening. New clinical studies are needed for a treatment algorithm that will provide good results.

Primary seminal vesicle diffuse large B-cell lymphoma: a case report and review of the literatures

Primary seminal vesicle lymphoma is a remarkably rare condition, predominantly manifesting as diffuse large B-cell lymphoma. Due to its rarity and nonspecific clinical presentations, it is often misdiagnosed or overlooked. Here, we report a case of a 68-year-old male diagnosed with primary seminal vesicle lymphoma, coinciding with prostate cancer. The diagnosis followed initial findings of elevated prostate-specific antigen levels and abnormal magnetic resonance imaging of the prostate and left seminal vesicle. Suspicion of prostate cancer led to a radical resection of both the prostate and seminal vesicle. Subsequent pathological examination and next-generation sequencing post-surgery confirmed the diagnosis of primary seminal vesicle diffuse large B-cell lymphoma, characterized by CD79B mutation type (MCD type). The patient was treated with six cycles of the R-CHOP regimen (rituximab, cyclophosphamide, vincristine, doxorubicin, prednisone), achieving complete metabolic remission as confirmed by positron emission tomography-computed tomography. Fifteen months post-treatment, the patient’s condition remains favorable. Through our literature review of additional six cases of primary seminal vesicle lymphoma, we aim to elucidate the typical clinical presentations, imaging features, pathological characteristics, genetic mutations, and therapeutic strategies, aiming to contribute to better detection and management of this rare malignancy. This case underscores the diagnostic challenges and emphasizes the necessity for heightened clinical suspicion and definitive pathological examination in the management of primary seminal vesicle lymphoma.

Status of and Challenges in Therapy of Mucinous Ovarian Cancer Associated with Pseudomyxoma Peritonei Syndrome: Review of Current Options and Future Treatment Trends

Objective: Pseudomyxoma peritonei (PP) is a rare condition, and differentiating between primary and secondary ovarian causes is crucial for determining the appropriate oncological therapy. Given the resistance of ovarian mucinous carcinoma to standard platinum-based chemotherapy, the objective of this review is to present the current therapeutic approaches and summarize the emerging trends in the treatment of this disease. Methods: The authors conducted an exhaustive evaluation of studies published over a 14-year period (June 2010–May 2024) concerning pseudomyxoma peritonei, mucinous ovarian carcinoma, ovarian causes of PP, and ovarian cancer using the following databases: PubMed, Scopus, and Science Direct. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were followed. The results were organized into seven subchapters and analyzed. Results: The analyzed studies present surgery followed by HIPEC as the current therapy with the best long-term survival results. However, the oncological treatment is unsatisfactory, and the choice of therapy depending on the primary origin of the tumor becomes particularly important. For the differential diagnosis between pseudomyxoma due to a gastrointestinal cause and that of ovarian origin, genetic analyses are recommended; these include the characteristics of the mucin present in the lesion, as the therapeutic response can have contradictory results depending on the primary origin of the tumor. Conclusions: Surgery followed by HIPEC remains the standard for resectable cases. However, oncological treatment has controversial results in the case of mucinous ovarian carcinoma compared to other types of ovarian cancer and to metastatic ovarian tumors associated with pseudomyxoma of the peritoneum. Based on the articles included in this review, it was found that the current trend is the study of mucin as a resistance factor against chemotherapy based on platinum products and the targeting of oncological therapy according to the tumor’s genetic characteristics.

MÚLTIPLOS ABSCESSOS ESPLÊNICOS EM PACIENTE COM CIRROSE HEPÁTICA NO AMAZONAS

A 38-year-old male patient with a diagnosis of liver cirrhosis for 5 years, irregularly treated with lactulose and furosemide, presented with fever, confusion, fatigue, jaundice, and ventilator-dependent pleuritic pain when seeking medical attention. Upon examination, he was lucid but exhibited slowed thinking, a sleep-wake cycle inversion, and flapping. The physical examination revealed edema in the lower limbs, jaundice, and pain in the left subcostal region. Due to the presence of decompensated cirrhosis, monitoring and diagnostic investigation for possible etiologies were initiated. Laboratory tests, ECG, chest X-ray, and echocardiogram were performed. A computed tomography (CT) scan revealed splenomegaly with regular contours and heterogeneous attenuation coefficients, showing hypodense, non-enhancing collections occupying the entire upper half, as well as a left pleural effusion and signs of chronic liver disease and portal hypertension. A transverse incision was made, revealing splenomegaly with the presence of thick fluid collections in the upper pole of the spleen, consistent with a diagnosis of splenic abscess. The patient progressed to hypovolemic shock and underwent reoperation after 72 hours for active bleeding control. Ciprofloxacin and clindamycin were administered for 28 days. The patient improved well after discharge from the ICU, with clinical and laboratory improvement. Follow-up was conducted with amoxicillin 250 mg for two years, and he continues outpatient follow-up with a gastroenterologist. Splenic abscess (SA) usually arises from endocarditis or other forms of hematogenous transmission, such as pneumonias, gastrointestinal perforations, or arteriovenous malformations. Although not always present, risk factors for the development of endocarditis include immunosuppression, diabetes mellitus, trauma, or microorganisms. Diagnosis is based on clinical findings and imaging studies (ultrasound and CT). Treatment depends on the number, size, and location of the abscesses. Antibiotic therapy can drastically reduce mortality associated with this condition, and percutaneous drainage has been successful. However, in some cases, splenectomy is necessary. Splenic abscess is a rare condition, and its early diagnosis requires a high degree of suspicion, and there is still no best approach for treatment.

Chest Wall Hydatid Disease: Surgical management and risk Factors for Recurrence and Mortality

Background Hydatidosis of the thoracic wall differs from other hydatid localizations in its pathophysiology, diagnostic, and therapeutic management. It is a little-studied entity. The objectives of our work were to describe its surgical management and to analyze the factors that may influence recurrence and mortality. Methods A retrospective, descriptive, longitudinal, and multicenter study on four university hospital surgical centers of Tunis, from January 1995 to December 2022 including operated hydatid cysts of the thoracic wall. Overall survival (OS) and cumulative recurrence rates were calculated. Univariate and multivariable Cox regression analyses were performed to identify recurrence and mortality risk factors. Results Forty-nine patients were included. The mean age was 41 ± 17 years [8-76]. The main presenting sign was thoracic parietal swelling (n=22). Chest ultrasound and CT scan showed multivesicular formation in 17 and 33 cases, respectively. Muscle involvement was in the intercostal (n=4), paravertebral (n=13), and pectoralis major (n=3) muscles. Bone involvement was vertebral (n=11), costal (n=12), costo-vertebral (n=21) and sternal (n=2). A posterolateral thoracotomy was performed (n=20). Surgical excision at various levels of the chest wall with spinal stabilization (n=15) was performed. Sixty-three percent of the patients received antiparasitic medical treatment. Recurrence occurred in 37% of cases. Four patients died from hydatidosis-related complications. Factors could be independently associated with recurrence such as male gender, and vertebral involvement. The presence of a visceral hydatid cyst located at a distance from the parietal lesion at the time of diagnosis and the occurrence of postoperative infectious complications could increase mortality. Conclusions Chest wall hydatidosis represents a rare medical condition where surgery remains the preferred treatment modality. However, it carries a substantial burden of morbidity and mortality, influenced by various factors. Further large-scale studies are necessary to gain a deeper understanding of these factors and to optimize management strategies accordingly.

Metastatic glioblastoma multiforme on skin and subcutaneous tissue

Glioblastoma multiforme (GBM) is characterized by its infiltrative growth pattern and high recurrence rate despite treatment. While local progression within the central nervous system (CNS) is the rule, manifestations outside the CNS, particularly skin and subcutaneous metastases, are very infrequent and seldom reported in the literature. The authors reviewed the current understanding of this rare condition, with the main purpose of giving visibility to its clinical presentation and prognostic implications, thus improving clinical management and encouraging research in this area. A PubMed, Cochrane Library, and EMBASE search from database inception through March 2024 was conducted. In this way, we compiled a total of thirty-five cases in our review. As far as we know, our work gathers the largest number of patients with this condition. Remarkably, we observed that the typical presentation of soft-tissue high-grade glioma metastases is the finding of subcutaneous erythematous nodules in patients previously operated on for a primary CNS tumor, within the craniotomy site and nearby, mostly in the first year after the initial surgery. It was also noted that there is a trend of developing a concomitant CNS recurrence and/or other metastases in different locations, either simultaneously or subsequently. From here, we propose some possible mechanisms that explain the extracranial spread of GBM. We concluded that a poor outcome is expected from the diagnosis of skin and subcutaneous metastases: the mean overall survival was 4.38 months. Yet, assessing individual characteristics is always mandatory; a palliative approach seems to be the best option for the majority of cases.

Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery

BackgroundCardiomyopathies are clinically important conditions, with a strong genetic component. National genomic initiatives such as 100,000 Genome Project (100KGP) provide opportunity to study these rare conditions at scale beyond conventional research studies.MethodsWe present the clinical and molecular characteristics of the 100KGP cohort, comparing paediatric and adult probands with diverse cardiomyopathies. We assessed the diagnostic yield and spectrum of genetic aetiologies across clinical presentations. We re-analysed existing genomic data using an updated analytical strategy (revised gene panels; unbiased analyses of de novo variants; and improved variant prioritisation strategies) to identify new causative variants in genetically unsolved children.ResultsWe identified 1918 individuals (1563 probands, 355 relatives) with cardiomyopathy (CM) in 100KGP. Probands, comprising 273 children and 1290 adults, were enrolled under > 55 different recruitment categories. Paediatric probands had higher rates of co-existing congenital heart disease (12%) compared to adults (0.9%). Diagnostic yield following 100KGP’s initial analysis was significantly higher for children (19%) than for adults (11%) with 11% of diagnoses overall made in genes not on the existing UK paediatric or syndromic CM panel. Our re-analysis of paediatric probands yields a potential diagnosis in 40%, identifying new probable or possible diagnoses in 49 previously unsolved paediatric cases. Structural and intronic variants accounted for 11% of all potential diagnoses in children while de novo variants were identified in 17%.Conclusions100KGP demonstrates the benefit of genome sequencing over a standalone panel in CM. Re-analysis of paediatric CM probands allowed a significant uplift in diagnostic yield, emphasising the importance of iterative re-evaluation in genomic studies. Despite these efforts, many children with CM remain without a genetic diagnosis, highlighting the need for better gene-disease relationship curation and ongoing data sharing. The 100KGP CM cohort is likely to be useful for further gene discovery, but heterogeneous ascertainment and key technical limitations must be understood and addressed.

Obstructive hydrocephalus due to developmental venous anomalies: a pediatric imaging case series.

Developmental venous anomalies are a rare cause of obstructive hydrocephalus in the pediatric population. In this study, we present the most extensive case series of DVA-induced obstructive hydrocephalus in the pediatric population. We thoroughly describe the imaging findings related to this uncommon entity and comprehensively discuss its clinical presentation and management strategies. The goal is to alert pediatric neuroradiologists to consider this rare condition in the differential diagnosis of hydrocephalus, particularly during prenatal screening or in pediatric cases. The electronic patient record systems of 2 tertiary care children's hospitals were reviewed to identify pediatric patients with confirmed DVAs leading to obstructive hydrocephalus. Age at diagnosis, gender, MRI findings (including location of the obstruction), clinical presentation, and symptoms were recorded. Data on treatment and follow-up imaging were also collected. The search yielded 5 cases of pediatric patients with DVA-induced obstructive hydrocephalus. The mean age at diagnosis of the DVA was 2.9 years (range: 0-7 years), and in two cases, ventriculomegaly was diagnosed in utero during prenatal cranial ultrasound screenings. In all patients, the DVA caused stenosis of the aqueduct of Sylvius, and one case presented with multiple DVAs. Although aqueductal stenosis caused by a DVA is rare, it is crucial to consider it in the differential diagnosis of hydrocephalus during prenatal screening or in the pediatric population. Brain MRI, especially post-contrast T1WI, and SWI sequences are particularly valuable for visualizing the typical "caput medusae" appearance of DVAs and detecting associated complications such as hemorrhages.

Rheumatoid arthritispresenting by combined pulmonary fibrosis and emphysema with clubbing and pulmonary hypertension: A rare case report.

A 60-year-old male smoker came with dyspnea. A rare condition known as combined pulmonary fibrosis and emphysema (CPFE) was observed on a chest CT scan. Decreased DLCO in combination with normal FVC can help diagnose CPFE. Concomitant connective tissue diseases, including rheumatoid arthritis, should be checked in CPFE patients.

Multiplying Meanings of Pregnancy Through Personal Accounts of Gestational Trophoblastic Disease

In cultures where reproduction is highly medicalised, pregnancy is often understood in terms of foetal development and an anticipated baby. This is connected to a wider privileging of the ‘foetal subject’ in these settings, which has had implications for reproductive autonomy. In this article, I disrupt dominant understandings of pregnancy by engaging with qualitative accounts of gestational trophoblastic disease. This rare condition can entail experiences of pregnancy without foetal development, allowing for scholarly attention to the wider biological, affective and relational constituents of this corporeal event. In this article, I pay particular attention to the ‘pregnancy hormone’ human chorionic gonadotropin (hCG), which in the context of gestational trophoblastic disease becomes a biomarker for disease. My research extends feminist science studies perspectives destabilising understandings of maternal and foetal bodies as bounded and distinct entities. The article de-centres foetal development as the most significant consequence of conception and enriches feminist discussions of reproductive politics.