Fetal and Pediatric Pathology最新文献

{"title":"A Review of Early- and Late-Onset Neonatal Infections by Group B Streptococcus: Pathophysiology and Vaccine Prospects.","authors":"Wahid Hanan Hamimi, Hajar Ahmad Jamil, Danesh Anamulai, Asrar Abu Bakar, Hamizah Ismail, Mohammed Imad Al-Deen Mustafa Mahmud","doi":"10.1080/15513815.2026.2684782","DOIUrl":"https://doi.org/10.1080/15513815.2026.2684782","url":null,"abstract":"<p><p>Group B Streptococcus (GBS) remains a leading cause of neonatal morbidity and mortality worldwide. About 18% of pregnant women are colonized in the gastrointestinal or genitourinary tracts. Vaginal colonization can result in ascending intrauterine infection, enabling GBS to reach the amniotic fluid and infect the fetus during pregnancy or the newborn at delivery, leading to invasive GBS (iGBS) disease. Early-onset disease (EOD) typically manifests as sepsis, whereas late-onset disease (LOD) is more often associated with meningitis. Intrapartum antibiotic prophylaxis (IAP), based on screening at 36-37 weeks' gestation, has substantially reduced EOD but not LOD, and implementation remains difficult in low- and middle-income countries (LMICs) with limited resources. This underscores the urgent need for a safe, effective, and affordable maternal GBS vaccine. This review examines how GBS virulence factors interact with host factors, causing iGBS. Understanding these mechanisms is essential for vaccine design and therapeutic development.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-26"},"PeriodicalIF":0.8,"publicationDate":"2026-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148406549","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare Forms of Abdominal Wall Defects: A Case Series.","authors":"Avantika Gupta, Chetan Khare, Roshan Chanchlani, Sunayna Lashkari, Nitu Mishra, Sahithi Kosgi","doi":"10.1080/15513815.2026.2684784","DOIUrl":"https://doi.org/10.1080/15513815.2026.2684784","url":null,"abstract":"<p><p><b>Background:</b> Abdominal wall defects represent a significant spectrum of congenital anomalies, ranging from the more frequently encountered gastroschisis and omphalocele to the rare and intricate malformations such as limb-body wall complex, Pentalogy of Cantrell, and cloacal exstrophy. Understanding these conditions is crucial for improving patient outcomes. <b>Materials and Methods:</b> We conducted a comprehensive study presenting rare AWDs diagnosed at a tertiary referral center over two years. Our approach involved an in-depth correlation of prenatal ultrasound evaluations with findings from post-expulsion or postnatal external examinations to ensure accuracy. <b>Results:</b> Among the total eight cases of rare AWDs analyzed, we identified two cases of type IV body stalk anomaly, three cases of atypical gastroschisis, and one case each of Pentalogy of Cantrell, bladder exstrophy, and cloacal exstrophy. Each case illustrates the complexities inherent in these disorders. <b>Conclusion:</b> This series emphasizes the wide variety and diagnostic challenges of rare AWDs. A meticulous evaluation of defect location, umbilical cord insertion, and associated anomalies is vital for clear classification and enhanced prenatal counseling. By documenting these cases, we not only elevate our understanding of embryological development but also significantly improve our diagnostic capabilities, ultimately leading to better management strategies and outcomes for affected individuals.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-12"},"PeriodicalIF":0.8,"publicationDate":"2026-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148363785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Copy Number Variants in Prenatal Diagnosis: A Study on Genetic Origins, Follow-up, and Dynamic Clinical Interpretation.","authors":"Tian Tian, Zhi Huang, Yuquan Li, Huiling Zheng, Kaize Ding","doi":"10.1080/15513815.2026.2690382","DOIUrl":"https://doi.org/10.1080/15513815.2026.2690382","url":null,"abstract":"<p><strong>Objective: </strong>To explore the role of pathogenicity classification, genetic origin, and clinical decision-making in pregnancy outcomes for copy number variations (CNVs) detected by prenatal chromosome microarray analysis (CMA), and to assess the value of CNV reclassification in dynamic interpretation.</p><p><strong>Methods: </strong>This retrospective study analyzed 43 fetuses with confirmed CNVs from 3,726 amniocenteses (2023-2025). CNVs were reclassified <i>via</i> literature and database review.</p><p><strong>Results: </strong>Among 43 CNVs, 15 were pathogenic (P)/likely pathogenic (LP) (53.3% de novo) and 28 were variants of uncertain significance (VUS) (71.4% inherited). Reclassification updated 2 to P, 2 to VUS, and 23 to likely benign (LB). Incomplete penetrance and fetal sex influenced interpretation.</p><p><strong>Conclusion: </strong>CNV interpretation is dynamic; regular review incorporating updated data improves prenatal counseling accuracy.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-17"},"PeriodicalIF":0.8,"publicationDate":"2026-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148340829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Pathological Features and Cytokeratin Expression Patterns of Osteofibrous Dysplasia in Children.","authors":"Xue-Mei Wu, Qin-Qin Zhang, Xiang-Yue Meng, Yuan Fang, Yi-Zhen Wang","doi":"10.1080/15513815.2026.2683413","DOIUrl":"10.1080/15513815.2026.2683413","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the clinicopathological features and cytokeratin (CK) expression patterns of osteofibrous dysplasia (OFD) in children.</p><p><strong>Methods: </strong>A total of 49 cases of OFD confirmed by the Department of Pathology, Anhui Provincial Children's Hospital from 2008 to 2025 were collected. Their clinicopathological data, CK expression, and follow-up information were analyzed.</p><p><strong>Results: </strong>The male-to-female ratio is approximately 4:3. The age ranges from 9 months to 13 years. It is more commonly observed in the tibia and fibula. Imaging examinations mainly reveal irregular bone destruction and cortical thinning. Histologically, it manifests as fibrous-osseous lesions. CK immunohistochemical staining was positive in 29 cases (29/49, 59.1%) and negative in the remaining cases. Follow-up indicated no recurrence or malignant transformation.</p><p><strong>Conclusion: </strong>OFD is a fibro-osseous lesion that commonly occurs in children. Immunohistochemistry often reveals CK expression, typically in individual cells, and it must be distinguished from conditions like osteofibrous dysplasia-like adamantinoma.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"222-232"},"PeriodicalIF":0.8,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148213375","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prenatal Ultrasound Diagnosis of a Rare Vascular Ring Formed by Left Aortic Arch and Right Ductus Arteriosus: A Case Report.","authors":"Yueyi Li, Wanying Zhou, Nengwen Lin, Jianguo Peng","doi":"10.1080/15513815.2026.2651781","DOIUrl":"10.1080/15513815.2026.2651781","url":null,"abstract":"<p><strong>Background: </strong>To guide prenatal recognition and management of this rare vascular ring formed by the left aortic arch and right ductus arteriosus.</p><p><strong>Methods: </strong>A 23-week primigravida with an abnormal three-vessel tracheal (3VT) view underwent fetal ultrasound, chromosomal copy number variation (CNV) sequencing, and subsequent pregnancy termination.</p><p><strong>Results: </strong>Ultrasound revealed a vascular ring formed by left aortic arch and right ductus arteriosus that encircled and compressed the trachea and esophagus, accompanied by thymic hypoplasia, enlarged posterior fossa, and single umbilical artery; CNV confirmed 22q11.2 deletion syndrome. Postmortem examination verified the structural abnormalities identified on prenatal ultrasound.</p><p><strong>Conclusion: </strong>This first reported case of a rare vascular ring with a left aortic arch and a right ductus arteriosus confirmed by postmortem examination validates the diagnostic efficacy and accuracy of prenatal ultrasound, with the 3VT view serving as the key diagnostic plane, and highlights the need for genetic assessment in perinatal management.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"254-260"},"PeriodicalIF":0.8,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595557","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"PANoptosis Genes as Novel Diagnostic Biomarkers for Neonatal Necrotizing Enterocolitis.","authors":"Li-Li Jia, Shu-Yue Luo, Xiao-Ya Ye, Hong-Hong Zhu, Zhan-Li Li","doi":"10.1080/15513815.2026.2678205","DOIUrl":"10.1080/15513815.2026.2678205","url":null,"abstract":"<p><strong>Background: </strong>Necrotizing enterocolitis (NEC), a life-threatening neonatal gastrointestinal disease, lacks reliable biomarkers. This study explores PANoptosis-a novel inflammatory cell death pathway-in NEC pathogenesis.</p><p><strong>Materials and methods: </strong>Ileal transcriptomic profiles from surgical NEC and non-inflammatory controls were retrieved from GSE64801 and GSE46619. Data were standardized <i>via</i> log-transformation and quantile normalization. After identifying differentially expressed genes, we intersected them with 902 PANoptosis-related genes. A diagnostic model was developed using LASSO regression and validated <i>via</i> ROC, calibration, and decision curve analyses.</p><p><strong>Results: </strong>Fifty-five NEC-associated PANoptosis genes were identified, primarily enriched in inflammatory pathways. NFKBIA and PECAM1 emerged as pivotal biomarkers. The model achieved an AUC and C-index of 0.903, with calibration curves confirming reliability. DCA and clinical impact curves demonstrated significant clinical utility.</p><p><strong>Conclusion: </strong>NFKBIA and PECAM1 are promising biomarkers for surgical NEC linked to PANoptosis. This study establishes a diagnostic framework and proposes therapeutic targets for advanced NEC management.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"211-221"},"PeriodicalIF":0.8,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148044612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inborn Errors of Immunity Among Pediatric Patients: A Retrospective Study from Southwestern Saudi Arabia.","authors":"Ali Alsuheel Asseri, Amer Ali Alshehri, Adhwaa Ahmed Aljari, Ashwag Ali Asiri, Haneen Abdullah Al Mani, Layan Mohammed Binobaiad","doi":"10.1080/15513815.2026.2651777","DOIUrl":"10.1080/15513815.2026.2651777","url":null,"abstract":"<p><strong>Purpose: </strong>Inborn errors of immunity (IEIs) represent a heterogeneous group of genetic conditions that predispose individuals to severe infections, autoimmunity, and malignancy. This study aimed to characterize the clinical, radiological, and genetic profiles of pediatric patients with IEIs at a single tertiary-care hospital in southwestern Saudi Arabia.</p><p><strong>Patients and methods: </strong>This retrospective study was conducted at the Abha Maternity and Children Hospital from January 2015 to December 2024. The medical records of 56 pediatric patients with IEIs (aged 1 month to 15 years) were reviewed. Data on epidemiological, clinical, radiological (chest radiographs and computed tomography scans), laboratory (complete blood counts and immunoglobulin levels), genetic, and outcome parameters were also extracted.</p><p><strong>Results: </strong>The cohort of 56 patients frequently presented with Severe Combined Immunodeficiency (SCID) (28.6%), Chronic Granulomatous Disease (CGD) (16.1%), and Predominantly Antibody Deficiencies (PAD) (14.3%), all demonstrating high consanguinity rates (94% in SCID and 100% in CGD). Pneumonia was the most prevalent clinical complication (85.7%). Genetic profiling of 40 patients revealed a predominantly autosomal recessive inheritance pattern (81%), with common gene mutations, including <i>RAG1/2</i>, <i>DCLRE1C</i>, <i>IL2RG</i>, and <i>IL7R</i>, in SCID and <i>NCF1</i> in all CGD cases. Autosomal recessive SCID constituted 83% of SCID cases. Pulmonary complications were the leading cause of mortality, accounting for eight (44.4%) of the 18 deaths.</p><p><strong>Conclusions: </strong>This study highlights the distinct epidemiological, clinical, and genetic characteristics of pediatric IEIs in southwestern Saudi Arabia, which are characterized by a high prevalence of autosomal recessive disorders attributed to consanguinity. Complicated pneumonia emerged as a significant clinical challenge and the primary cause of mortality.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"179-198"},"PeriodicalIF":0.8,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Retrospective Analysis of Morphological Anomalies in Fetuses from Spontaneous Abortions: A Clinical and Pathological Study.","authors":"Íris Costa Rodrigues, Susana Guimarães, Sofia Dória, Carla Ramalho","doi":"10.1080/15513815.2026.2647915","DOIUrl":"10.1080/15513815.2026.2647915","url":null,"abstract":"<p><strong>Background: </strong>Spontaneous abortion affects up to 30% of conceptions, andfetal anomalies are frequently an underlying cause. This study aimed to characterize morphological anomalies in spontaneous abortions to clarify underlying etiologies and related factors.</p><p><strong>Methods: </strong>A retrospective cohort of 180 spontaneous abortions (10-23 + 6 weeks) was analyzed at a tertiary hospital. All cases underwent fetal autopsy with clinical, pathological, and genetic review. Cases with and without anomalies were compared.</p><p><strong>Results: </strong>Fetal anomalies were found in 39.4% of cases. Morphological anomalies were most frequent (57.7%), particularly fetal growth restriction, cardiac defects, and complications of monochorionic twin pregnancies. Trisomies 21, 13 and 18 accounted for 54.6% of chromosomal anomalies. No significant associations were found with maternal factors. Gestational age at fetal loss was significantly lower in chromosomal than in morphological anomalies (<i>p</i> = 0.004).</p><p><strong>Conclusion: </strong>This study highlights the value of autopsy and multidisciplinary assessment in identifying fetal anomalies and improving diagnostic accuracy and reproductive counseling.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"161-178"},"PeriodicalIF":0.8,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147505365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Brain Structural and Dysmaturation Anomalies in First- and Second-Trimester Trisomy 21 Fetuses: Ultrasound, MRI, and Autopsy Findings.","authors":"Maria Paola Bonasoni, Mariangela Pati, Andrea Musarò, Flavio Vanacore, Immacolata Blasi, Giovanna Botticelli, Lorenzo Aguzzoli, Jonathan Lin, Parthiv Haldipur","doi":"10.1080/15513815.2026.2690379","DOIUrl":"10.1080/15513815.2026.2690379","url":null,"abstract":"<p><p>Fetuses with trisomy 21 typically exhibit subtle but measurable deviations in early brain growth rather than frequent major malformations. This review synthesizes first-second trimester data from ultrasound, fetal MRI, and autopsy studies to characterize early neurodevelopmental alterations in Down syndrome. Especially, in second trimester, neurosonography reveals mild reductions in head and cerebellar biometry, a characteristic \"seagull\" cerebral hemisphere configuration, and thinned subplate, while fetal MRI demonstrates global but regionally accentuated brain and cerebellar hypoplasia with relatively preserved gross architecture. Autopsy and microscopic analyses confirm reduced cellularity and delayed lamination in cortex, basal ganglia, and cerebellum, supporting a primary disturbance of neurogenesis rather than migration. Severe structural malformations and obstructive hydrocephalus are rare but documented. Current evidence underscores the prognostic potential-and limitations-of early neuroimaging, highlighting the need for standardized, prospective studies linking prenatal brain metrics with long-term neurodevelopmental outcomes.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"233-243"},"PeriodicalIF":0.8,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148310016","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case of Epstein-Barr Virus Associated Smooth Muscle Tumor in the Bronchus of a Child with <i>CARMIL2</i> Deficiency and a Literature Review.","authors":"Yi Peng, Wanmin Xia, Cheng Xie, Yinghong Fan, Li Wang, Hongjia Chen, Liangqin Jia, Jia Xu","doi":"10.1080/15513815.2026.2662889","DOIUrl":"10.1080/15513815.2026.2662889","url":null,"abstract":"<p><p><b>Background:</b> Epstein-Barr virus associated smooth muscle tumors (EBV-SMTs) have been established as a rare neoplasm closely associated with severe immunodeficiency. <i>CARMIL2</i> deficiency, described in recent years, is a combined immunodeficiency disorder characterized by CD28-mediated T-cell costimulatory defect, altered cytoskeletal dynamics, susceptibility to recurrent infections, and EBV-SMTs. <b>Case report:</b> We report the first documented case of pediatric bronchial EBV-SMTs caused by <i>CARMIL2</i> deficiency summarizing its clinical features, pathogenesis, key points for diagnosis and treatment. <b>Conclusion:</b> Children with recurrent infections, inflammatory bowel disease, and allergic phenotypes accompanied by NK cell depletion should undergo early genetic evaluation. Routine EBV encoded RNA <i>in situ</i> hybridization (EBER-ISH) is recommended for all smooth muscle tumors, and evidence of primary immunodeficiency (PID) should be investigated in patients without secondary immunodeficiency. Immunorestoration remains the fundamental therapeutic strategy, novel approaches such as exogenous IL-2 require further investigation.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"244-253"},"PeriodicalIF":0.8,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148152001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}