Search Results (334)

Each year, around 23 million miscarriages occur worldwide, which have a substantial emotional impact on parents, and impose significant societal costs. While medical care accounts for most expenses, work productivity loss contributes significantly. Addressing underlying causes of miscarriage could improve parents’ mental health and potentially their economic impact. In most countries, investigations into miscarriage causes are only recommended after recurrent cases, focusing mainly on maternal factors. Fetal and placental tissue are rarely examined, as current guidelines do not advise routine genetic analyses of pregnancy tissue, because the impact of further clinical decision making and individual prognosis is unclear. However, this leaves over 90% of all miscarriage cases unexplained and highlights the need for alternative methods. We therefore conducted a narrative review on genetic analysis, autopsy, and imaging of products of conception (POC). Karyotyping, QF-PCR, SNP array, and aCGH were reviewed in different research settings, with QF-PCR being the most cost-effective, while obtaining the highest technical success rate. Karyotyping, historically being considered the gold standard for POC examination, was the least promising. Post-mortem imaging techniques including post-mortem ultrasound (PMUS), ultra-high-field magnetic resonance imaging (UHF-MRI), and microfocus computed tomography (micro-CT) show promising diagnostic capabilities in miscarriages, with micro-CT achieving the highest cost-effective performance. In conclusion, current guidelines do not recommend diagnostic testing for most cases, leaving the majority unexplained. Although genetic and imaging techniques show promising diagnostic potential, they should not yet be implemented in routine clinical care and require thorough evaluation within research settings—assessing not only diagnostic and psychosocial outcomes but also economic implications. Full article

Objective: To evaluate the diagnostic utility of antepartum amnioinfusion in cases of severe oligo- and anhydramnios and to descriptively report perinatal outcomes. Methods: This retrospective single-center study analyzed all antepartum amnioinfusions performed between 2009 and 2024 in pregnancies between 16 + 0 and 34 + 0 weeks of gestation. The primary endpoint was diagnostic impact following amnioinfusion. Secondary endpoints were descriptive perinatal outcomes. No inferential statistical analyses were performed. Results: A total of 37 amnioinfusions were performed in 31 patients. Median gestational age at first amnioinfusion was 22 ± 4.3 weeks, with a mean infusion volume of 259 ± 59.4 mL. The most frequent etiologies were preterm prelabor rupture of membranes (PROM, 29%), fetal growth restriction (FGR, 25.8%), and urogenital malformations (22.6%). Amnioinfusion improved sonographic visualization and diagnostic assessment in the majority of cases. Pregnancy prolongation was observed in selected subgroups; however, causal inference regarding therapeutic efficacy cannot be drawn. Conclusions: Antepartum amnioinfusion represents a valuable adjunct for prenatal diagnostic evaluation in severe oligo- and anhydramnios. Observed perinatal outcomes should be interpreted descriptively. Further prospective, controlled studies are required to define the role of amnioinfusion beyond diagnostic feasibility. Full article

Spontaneous hemoperitoneum in pregnancy is rare, and rupture of a superficial uterine fundal vein in an unscarred uterus is exceptionally uncommon. A 37-year-old woman at 27 + 0 weeks presented with left upper quadrant abdominal pain, and imaging revealed a localized hematoma adjacent to the left uterine fundus without active bleeding. During conservative management, she developed sudden severe pain with fetal heart rate decelerations at 27 + 6 weeks, prompting emergency cesarean delivery. Intraoperative findings showed approximately 2400 mL of hemoperitoneum caused by rupture of a superficial fundal vein, with the uterus otherwise intact, and bleeding was controlled with a fibrin sealant patch. Maternal recovery and neonatal outcome were favorable. This case underscores that rupture of superficial uterine veins should be considered in pregnant patients presenting with unexplained hemoperitoneum during pregnancy. Full article

Cytomegalovirus (CMV) is the most common infectious cause of congenital malformations, often presenting with atypical clinical findings. Fetal damage is most severe following primary maternal infection during the first trimester of pregnancy, with the likelihood of transmission increasing with pregnancy advancement. CMV damage may continue to intensify during the early postnatal years. In this narrative review we summarized publications from the last 30 years addressing the epidemiology, diagnosis, prevention and treatment of CMV in pregnancy, with a special emphasis on embryonic and fetal damage. Substantial progress has been made in the diagnosis and treatment of CMV infection during pregnancy, warranting a reconsideration of current clinical approaches. Assessment of viral load enables prediction of fetal infection; its reduction by maternal treatment with valacyclovir may lower both the rate and severity of transmission. Confirmed fetal infection can be diagnosed by amniocentesis and viral DNA detection. Clinical manifestations in infants may be evident at birth (cCMV) or gradually emerge during the first years. The most common fetal damage is hearing loss alongside a variety of brain lesions resulting in significant neurological deficits, including intellectual impairment. Brain involvement is diagnosed by ultrasound or magnetic resonance imaging (MRI). Pharmacological treatment with ganciclovir or valganciclovir, if initiated early after birth, can slow the progression of hearing loss and may ameliorate other neurological and neurodevelopmental deficits. As of today, there is no approved CMV vaccine for prevention. The mRNA-1647’s vaccine, currently in phase 3 clinical trial, appears promising. These advances underscore the need for screening pregnant women in the first trimester and newborn infants of mothers suspected of having CMV infection. Neurodevelopmental follow up for several years, including hearing and visual assessment, is advised in all infants positive for CMV. Infants with clinical manifestations should be offered treatment as early as possible following diagnosis of cCMV. Full article

Objective: This study aims to engineer a novel nanoparticle formulation for combined tumor therapy, designated as PDA@Mn-siSur-c-NPs, which comprises a polydopamine/manganese dioxide (PDA@MnO₂) core alongside survivin-targeting siRNA and cyclo(RGD-DPhe-K)-targeting moiety. Methods: The PDA@Mn-siSur-c-NPs were constructed and subjected to detailed characterization. Inductively coupled plasma optical emission spectroscopy (ICP-OES) was employed to quantify manganese content. To assess siRNA stability within the system, samples were incubated with 50% fetal bovine serum (FBS) before agarose gel electrophoresis analysis. Additionally, cellular internalization by 4T1 cells and in vitro photothermal conversion efficiency of the formulation were evaluated. ICP-OES was further utilized to investigate the in vivo pharmacokinetics and tissue distribution of manganese. Animal model studies were conducted to assess the anti-breast cancer efficacy of PDA@Mn-siSur-c-NPs in combination with infrared irradiation. Results: The newly developed PDA@Mn-siSur-c-NPs demonstrated superior siRNA protection, reduced toxicity, and high photothermal conversion capacity. When combined with photothermal therapy (PTT), these nanoparticles exerted enhanced synergistic anti-tumor effects. Delivery of survivin siRNA resulted in a significant downregulation of survivin protein expression in tumor tissues. Moreover, magnetic resonance imaging (MRI) confirmed that the nanoparticles possess favorable imaging properties. Conclusions: This research demonstrates that the integration of PDA@Mn-siSur-c-NPs with PTT holds considerable therapeutic promise for improved breast cancer treatment. Full article

Background and Clinical Significance: The crista terminalis (CT) is a fibromuscular ridge located on the posterolateral wall of the right atrium, formed by the junction of the sinus venosus and the primitive right atrium. A hypertrophic or prominent CT (HCT) refers to a thickened or conspicuous configuration of this normal anatomical structure. In prenatal ultrasound (US) and/or echocardiographic assessments, HCT can mimic a right atrial mass, such as a tumor or a thrombus. Case Presentation: Herein, we describe a case of a fetal right atrial echogenic mass detected at 32 weeks, which remained stable through gestation and was confirmed postnatally as a likely HCT. No hemodynamic compromise, growth, or pathological sequelae were observed. Conclusions: Our case reinforces the importance of including atrial structural variants in the differential diagnosis of intracardiac masses, particularly when features favor stability and low risk. Serial imaging, avoidance of premature invasive measures, and careful counseling are key to appropriate management. Full article

Background. Gestational diabetes mellitus (GDM) induces maternal hyperglycemia, which may alter fetal cardiac structure and function, increasing short- and long-term cardiovascular risks. Purpose. To systematically review the evidence on the fetal cardiac structural and functional effects of GDM, to explore the diagnostic role of novel imaging and biochemical biomarkers, and to summarize the long-term cardiovascular complications associated with GDM. Materials and Methods. A systematic search of PubMed, Scopus, and Cochrane Library was conducted according to the PRISMA guidelines. All studies comparing cardiac outcomes in GDM and non-GDM pregnancies were included. Data on myocardial hypertrophy, diastolic and systolic function, imaging modalities, and biomarkers were extracted and qualitatively synthesized. Results. A total of twelve eligible studies were identified. Fetal cardiac hypertrophy and diastolic and early systolic dysfunction are common among GDM pregnancies and can be detected by dual-gate Doppler and speckle-tracking echocardiography. Abnormalities are observed in indices such as the myocardial performance index, E/A, E/e′ ratios, and global longitudinal and circumferential strain in fetuses and may persist in the neonatal period. Alterations may be more pronounced for the right ventricle compared to the left. Septal hypertrophy is associated with elevated umbilical cord pro-brain natriuretic peptide. The risk of early-onset cardiovascular disease in the progeny of diabetic mothers is 29% higher, as evidenced by population-based cohort data. Conclusions. GDM is linked to fetal cardiac remodeling and an increased long-term cardiovascular risk. Early detection and customized interventions to reduce adverse outcomes may be achieved by integrating advanced echocardiographic techniques and biomarkers into prenatal surveillance. Full article

Introduction: Routine second trimester anomaly scans include standard cardiac planes, yet detailed cardiac morphometry is not part of current practice. We hypothesized that a comprehensive set of cardiac measurements could be obtained from these standard views without prolonging examination time and with clinically meaningful reproducibility. Methods: We conducted a prospective study involving ninety-two uncomplicated singleton pregnancies undergoing routine second trimester anomaly scans. Cardiac measurements were obtained using standard ISUOG/SRUOG planes, both during the examination and offline. Feasibility, reproducibility, and the impact on scanning time were evaluated, and results were compared with established reference ranges. Results: All morphometric measurements were successfully obtained in 100% of included cases. Mean “screen time” increased only minimally from 35.45 min (95% CI 32.9–38.0) to 38.75 min (95% CI 36.1–41.4), with a non-significant mean difference of 3.30 min (p = 0.063). Most z-scores fell within ±2 SD. Intra-observer reproducibility ranged from fair to excellent, with strong correlations for major cardiac dimensions (r > 0.80 for multiple parameters). Conclusions: Comprehensive fetal cardiac morphometry can be integrated into the routine second trimester anomaly scan using standard imaging planes, without prolonging the examination. This approach may support earlier recognition of atypical growth patterns or cardiac remodeling. Full article

Background: Women’s health has historically served as an incubator for major medical innovations yet often faces relative neglect in sustained funding and implementation. The rise of artificial intelligence (AI) and machine learning (ML) presents both opportunities and risks for diagnostics in obstetrics and gynecology (OB/GYN). Methods: A narrative review (January 2018–August 2025) integrating peer-reviewed literature and clinical exemplars was conducted. OB/GYN relevance, clinical validation/scale, near-term outcome impact, and domain diversity were prioritized in selection. Results: We highlight ten promising AI applications across imaging, laboratory diagnostics, patient monitoring/digital biomarkers, and decision support, including AI-enhanced fetal ultrasound, cervical screening, preeclampsia prediction with cell-free RNA, noninvasive endometriosis testing, remote maternal–fetal monitoring, and reinforcement-learning decision support in gynecologic oncology. Conclusions: AI shows transformative potential for women’s health diagnostics but requires attention to bias, privacy, regulatory evolution, reimbursement, and workflow integration. Equity-focused development and diverse datasets are essential to ensure benefits accrue broadly. Full article

Background/Objectives: Emergency department (ED) physicians may hesitate to order medically indicated imaging (MI) for pregnant patients, potentially delaying or omitting necessary diagnostic procedures. This study aimed to assess the attitudes and practices of ED physicians regarding MI procedures in pregnant patients, considering their level of training. Methods: A total of 300 physicians participated, including ED general practitioners (n = 100), emergency medicine (EM) residents (n = 100), and EM specialists (n = 100). The first section of the questionnaire collected demographic data, professional experience, and previous training related to the subject. The second section included questions based on a modified version of the American College of Radiology (ACR) Appropriateness Criteria to assess attitudes and behaviors. Results: A majority (88.7%) of participants found the management of pregnant trauma patients challenging and expressed a preference to avoid such cases. A statistically significant difference was observed between physician groups regarding the approach to unstable pregnant patients, with EM specialists and residents more likely to disregard gestational age when deciding on imaging (p < 0.001). Physicians who had received relevant training were significantly more likely to advocate immediate imaging regardless of gestational age in unstable patients (p = 0.001). Conclusions: This study highlights the diversity and statistical heterogeneity in ED physicians’ attitudes and behaviors toward MI use in pregnant patients. These variations are influenced by training, clinical experience, and accessibility of updated guidelines. Enhancing education and standardizing procedural guidance may improve decision-making and ultimately reduce maternal and fetal morbidity and mortality. Based on these findings, we propose a clinical algorithm to support imaging decisions in emergency settings. Full article

Background/Objectives: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder; it is typically diagnosed in adulthood, but occasionally presents antenatally as very-early onset ADPKD. Despite advances in prenatal ultrasonography, knowledge regarding the postnatal course of fetal ADPKD remains limited, restricting reliable prognostic assessment and prenatal counselling. This study aimed to evaluate the prenatal sonographic features of fetal ADPKD and their correlation with postnatal outcomes. Materials and Methods: We retrospectively reviewed 20 cases of prenatally suspected ADPKD diagnosed at a single tertiary referral center between 2006 and 2024. Prenatal ultrasonographic findings including renal size, cortical echogenicity, corticomedullary differentiation (CMD), and cortical cysts were analyzed and correlated with postnatal clinical and genetic outcomes. Postnatal follow-up data, including renal function and progression to chronic kidney disease (CKD), were collected with a median follow-up of 93.6 months. Results: The most consistent prenatal ultrasonographic findings were increased cortical echogenicity (85%), increased CMD (75%), and renal enlargement (35%), with cortical cysts detected in 45% of cases. Amniotic fluid volume was preserved in most cases (80%). Postnatally, most infants maintained normal or near-normal renal function, although two progressed to CKD. Both CKD cases demonstrated absent CMD on prenatal imaging. Sonographic features resembling autosomal recessive polycystic kidney disease (ARPKD) were associated with adverse outcomes. Although CMD severity showed no correlation with short-term neonatal outcomes, loss of CMD may still serve as a potential early indicator of long-term renal dysfunction. Conclusions: Fetal ADPKD was associated with heterogeneous postnatal outcomes. Loss of CMD and ARPKD-like sonographic appearances may be associated with adverse prognosis, whereas most infants maintained preserved renal function. Early recognition of ADPKD is crucial for accurate counselling, appropriate perinatal management, and long-term surveillance. Full article

Background: Central nervous system (CNS) tumors during pregnancy are rare but present significant diagnostic, therapeutic, and ethical challenges. These include both primary and metastatic lesions, which share overlapping clinical features and management complexities. Their clinical course is influenced by gestational physiological changes, which can mask symptoms and delay diagnosis, thereby increasing maternal and fetal risks. Objective: This review aims to synthesize current evidence on the epidemiology, pathophysiology, clinical presentation, diagnostic strategies, treatment options, prognosis, and ethical considerations related to CNS tumors in pregnant patients. Methods: A comprehensive literature review was conducted, including retrospective and prospective studies, clinical guidelines, and systematic reviews focusing on brain and spinal tumors diagnosed during pregnancy. Particular attention was given to the impact of gestational age, tumor histology, and maternal condition on treatment outcomes. Results: Hormone-sensitive tumors such as meningiomas and prolactinomas may exhibit accelerated growth during pregnancy due to elevated progesterone and prolactin levels. Diagnosis is often delayed due to symptom overlap with normal gestational changes. MRI without contrast remains the imaging modality of choice. Glucocorticoids and selected chemotherapy agents can be cautiously used depending on gestational age. Surgical resection, particularly in the second trimester, has been shown to be safe and effective in appropriate clinical scenarios. Multidisciplinary coordination is essential. Prognosis varies based on tumor type and timing of intervention, with maternal survival prioritized in high-risk situations. Ethical management hinges on patient autonomy, informed consent, and proportionality of medical interventions. Conclusions: CNS tumors during pregnancy require early recognition, individualized treatment planning, and ethical vigilance. Multidisciplinary collaboration is vital to optimizing outcomes for both mother and fetus. Future efforts should focus on developing standardized protocols and expanding evidence through multicenter studies. Full article

This case report describes a fetus with achondrogenesis type II, a severe and lethal type II collagen disorder, presenting with micrognathia and hydrops. Prenatal evaluation with 2D/3D ultrasound, followed by postmortem imaging and pathological examination, confirmed the diagnosis. Genetic testing revealed a heterozygous COL2A1 mutation (1703G>A; Gly516Ser, exon 24). The significance of this study lies in the identification of a missense mutation in COL2A1 associated with achondrogenesis type II. This report highlights that the condition may present with hydrops and craniofacial anomalies, establishing this variant as a pathogenic mutation associated with the disorder. Full article

Background and Clinical Significance: This article presents a clinical case of persistent umbilical vein of the extrahepatic type in a fetus. The features, diagnosis, and prognosis of this rare vascular anomaly, as well as the applied pregnancy monitoring tactics, are reviewed. Case Presentation: A 34-year-old woman was referred to a tertiary-level hospital at 25th weeks’ gestation for evaluation of a suspected fetal heart defect. Persistent right umbilical vein of the extrahepatic type, cardiomegaly with predominant atrial enlargement, a primum atrial septal defect, and hydropericardium were diagnosed. At 33 + 5 weeks of gestation, signs of decompensation emerged, including progressive cardiomegaly, hydropericardium, and newly developed ascites, leading to the decision to induce labor. Imaging was performed using a Voluson E8 ultrasound system (GE Healthcare, Zipf, Austria). Despite all efforts, the severity of the condition ultimately proved fatal in this clinical case. Conclusions: Patients carrying fetuses suspected or diagnosed with PRUV should receive coordinated management by a multidisciplinary team of specialists. Delivery should be planned in a tertiary-level hospital. Full article

In many monitoring scenarios, repeated and operator-independent assessments are needed. Wearable ultrasound technology has the potential to continuously provide the vital information traditionally obtained from conventional ultrasound scanners, such as in fetal monitoring for high-risk pregnancies. This work is an engineering study motivated by that setting. A 144-element annular capacitive micromachined ultrasonic transducer (CMUT) is hereby proposed for 3-D ultrasound imaging. The array is characterized by its compact size and cost-effectiveness, with a geometry and low-voltage operation that make it a candidate for future wearable integration. To enhance the imaging performance, we propose the utilization of a Fermat’s spiral virtual source (VS) pattern for diverging wave transmission and conduct a performance comparison with other VS patterns and standard techniques, such as focused and plane waves. To facilitate this analysis, a simplified and versatile simulation framework, enhanced by GPU acceleration, has been developed. The validation of the simulation framework aligned closely with expected values (0.002 ≤ MAE ≤ 0.089). VSs following a Fermat’s spiral led to a balanced outcome across metrics, outperforming focused wave transmissions for this specific aperture. The proposed transducer presents imaging limitations that could be improved in future developments, but it establishes a foundational framework for the design and fabrication of cost-effective, compact 2-D transducers suitable for 3-D ultrasound imaging, with potential for future integration into wearable devices. Full article