Fetal and Pediatric Pathology最新文献

Broad Clinical Spectrum of Mosaic Trisomy 2: Report of Two New Cases in Tunisia. 2型马赛克三体的广泛临床谱：突尼斯两例新病例报告。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-07-24 DOI: 10.1080/15513815.2025.2534033

Kaouther Nasri, Nadia Ben Jamaa, Ines Ouertani, Ridha M'rad, Nadia Boujelben, Aida Masmoudi, Soumeya Siala Gaigi

{"title":"Broad Clinical Spectrum of Mosaic Trisomy 2: Report of Two New Cases in Tunisia.","authors":"Kaouther Nasri, Nadia Ben Jamaa, Ines Ouertani, Ridha M'rad, Nadia Boujelben, Aida Masmoudi, Soumeya Siala Gaigi","doi":"10.1080/15513815.2025.2534033","DOIUrl":"https://doi.org/10.1080/15513815.2025.2534033","url":null,"abstract":"Background: Mosaic trisomy 2 is the detection of two or more cells with the additional chromosome 2 distributed over two or more independent cultures.Methods: We present 2 new cases of mosaic trisomy 2 detected at amniocentesis with previously unreported clinical features and we review the literature of the clinical manifestations of this uncommon aneuploidy.Results: Cytogenetic analysis of the amniotic fluid culture showed mosaic trisomy 2 (47,XY,+2[9]; 46,XY[19]) (32%) for case 1, and (47,XY,+2[13]; 46,XY[21]) (38%) for case 2 in two independent flask cultures. Our second case presented a new clinical finding non described previously in mosaic trisomy 2 which is occipital schizencephaly associated with hydrocephalus.Conclusion: Two new cases of mosaic trisomy 2 were detected at amniocentesis with previously unreported clinical features. Prenatal diagnosis of chromosomal mosaic trisomy 2 continues to create a dilemma in genetic counseling because of limited data and variable outcomes.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-12"},"PeriodicalIF":0.7,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144709660","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}

引用次数: 0

Liver Dysfunction and Liver Histopathology in Alanyl-tRNA Synthetase 1 (AARS1) Deficiency with a Novel Mutation: A Case Report. Alanyl-tRNA合成酶1 （AARS1）缺乏伴新突变的肝功能障碍和肝脏组织病理学：一例报告。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-07-17 DOI: 10.1080/15513815.2025.2532576

Chennakeshava Thunga, Suvradeep Mitra, Alisha Babbar, Sadhna B Lal

{"title":"Liver Dysfunction and Liver Histopathology in Alanyl-tRNA Synthetase 1 (AARS1) Deficiency with a Novel Mutation: A Case Report.","authors":"Chennakeshava Thunga, Suvradeep Mitra, Alisha Babbar, Sadhna B Lal","doi":"10.1080/15513815.2025.2532576","DOIUrl":"https://doi.org/10.1080/15513815.2025.2532576","url":null,"abstract":"Alanyl-tRNA synthetase 1 (AARS1) is a cytosolic enzyme belonging to the Aminoacyl transfer RNA synthetases group that plays a key role in protein translation. Bi-allelic AARS1 mutations presenting as liver dysfunction are rare. A 10-month-old baby girl presented with upper gastrointestinal bleeding and abdominal distension after a short history of febrile illness. There was hepatosplenomegaly with poor growth, microcephaly and delayed developmental milestones on examination. Laboratory investigations showed liver biochemical dysfunction along with correctable coagulopathy. Liver histopathology depicted diffuse macrovesicular steatosis along with expansion of the portal tracts due to accumulation of foamy histiocytes. The hepatic lobules also highlighted the accumulation of foamy histiocytes which were diastase-PAS, faint Perls, and CD68 positive simulating storage cells. Besides, mild portal fibrosis with incomplete septa and mild focal reticulin condensation were also noted. Whole-exome sequencing clinched the diagnosis of a homozygous mutation in the AARS1 gene, a novel mutation with autosomal recessive inheritance. AARS1 mutation affects protein biosynthesis and mitochondrial functions, causing a multisystemic disorder. The first presentation with liver dysfunction is infrequent.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-7"},"PeriodicalIF":0.7,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144660943","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}

引用次数: 0

Primary Intrarenal Yolk Sac Tumor in a Child: A Case Report with Summary of Prior Published Cases. 儿童原发性肾内卵黄囊肿瘤：1例报告并总结先前发表的病例。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-07-14 DOI: 10.1080/15513815.2025.2532578

Oindrila Das, Raktim Mukherjee, Debalina Karmakar, Kalyani Saha Basu, Uttara Chatterjee

引用次数: 0

Congenital Mass Lesions of the Thoracic Cavity- A Fetal Autopsy Study. 先天性胸腔肿块病变-胎儿尸检研究。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-07-09 DOI: 10.1080/15513815.2025.2529888

Umamaheswari Gurusamy, Harini Devi Jeganathan Kaliyaperumal Annadurai, Priyadarshini Kumaraswamy Rajeswaran

{"title":"Congenital Mass Lesions of the Thoracic Cavity- A Fetal Autopsy Study.","authors":"Umamaheswari Gurusamy, Harini Devi Jeganathan Kaliyaperumal Annadurai, Priyadarshini Kumaraswamy Rajeswaran","doi":"10.1080/15513815.2025.2529888","DOIUrl":"https://doi.org/10.1080/15513815.2025.2529888","url":null,"abstract":"Objectives: Congenital thoracic mass lesions are generally benign but can cause significant morbidity and mortality due to airway obstruction. This study highlights the role of perinatal autopsy in identifying these lesions and correlates autopsy findings with prenatal imaging.Materials and methods: A retrospective analysis of fetal autopsies with thoracic mass lesions was conducted over 9 years. A standardized autopsy protocol, including fixation, photography, foetogram, external examination, en-bloc removal, internal examination, and organ block dissection, was followed and compared with prenatal imaging results.Results: Of 426 fetal autopsies, 20 (4.6%) had thoracic mass lesions. The most common lesion was diaphragmatic hernia (9 cases, 45%), followed by congenital high airway obstruction syndrome (3 cases, 15%). Agreement with prenatal ultrasonography was observed in only 4 cases (20%).Conclusion: Fetal autopsy is crucial for identifying thoracic mass lesions and determining the cause of death, aiding in genetic counseling and management of future pregnancies.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-16"},"PeriodicalIF":0.7,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144592844","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}

引用次数: 0

Neural Tube Defects in Tunisia: Epidemiological, Biochemical and Genetic Factors. 突尼斯神经管缺陷：流行病学、生化和遗传因素。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-07-01 Epub Date: 2025-06-09 DOI: 10.1080/15513815.2025.2514602

Kaouther Nasri, Nadia Ben Jamaa, Soumeya Siala Gaigi

{"title":"Neural Tube Defects in Tunisia: Epidemiological, Biochemical and Genetic Factors.","authors":"Kaouther Nasri, Nadia Ben Jamaa, Soumeya Siala Gaigi","doi":"10.1080/15513815.2025.2514602","DOIUrl":"10.1080/15513815.2025.2514602","url":null,"abstract":"Introduction: This study resumed epidemiological, biochemical and genetic factors associated with the occurrence of neural tube defects in Tunisia. Material and methods: This work builds on our previously published investigations, utilizing data retrospectively collected during (1991-2011), and prospectively collected between January 1, 2012, and December 30, 2013. Results: Our studies have demontrated that plasma folate, vitamin B12 and vitamin D concentrations were significantly lower in cases compared with controls. Homocysteine concentrations were significantly higher in cases compared with controls. Cases had higher concentrations of heptadecanoic acid, linolelaidic acid and arachidonic acid/(eicosapentaenoic acid + docosahexaenoic acid) ratio than controls. Nervonic acid, arachidonic acid, adrenic acid, Eicosapentaenoic Acid, Docosahexaenoic Acid, and omega 3 polyunsatured fatty acids concentrations were significantly lower in cases. Conclusion: Such research would contribute to a better understanding of the biochemical and genetic variances in mothers, highlighting the suitable status of vitamins, homocysteine, lipid profile, and genotype.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"339-356"},"PeriodicalIF":0.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144259264","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}

引用次数: 0

Relationship Between Maternal Serum Level of Bilirubin with Sporadic and Recurrent Miscarriage: A Bidirectional 2-Sample Mendelian Randomization Study. 母体血清胆红素水平与散发性和复发性流产的关系：双向双样本孟德尔随机研究。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-07-01 Epub Date: 2025-05-19 DOI: 10.1080/15513815.2025.2495683

Sai Kong, Yiwen Wang, Mingyu Yu, Zhigang Zhang, Yanping Qian, Yong Wu, Manyin Zhai, Lijuan Jiang

{"title":"Relationship Between Maternal Serum Level of Bilirubin with Sporadic and Recurrent Miscarriage: A Bidirectional 2-Sample Mendelian Randomization Study.","authors":"Sai Kong, Yiwen Wang, Mingyu Yu, Zhigang Zhang, Yanping Qian, Yong Wu, Manyin Zhai, Lijuan Jiang","doi":"10.1080/15513815.2025.2495683","DOIUrl":"10.1080/15513815.2025.2495683","url":null,"abstract":"Background: The association between maternal serum bilirubin levels and miscarriage risk remains unclear. This study investigates the causal link between maternal bilirubin levels and both sporadic and recurrent miscarriage using Mendelian randomization (MR) and linkage disequilibrium score regression (LDSC). Methods: A bidirectional two-sample MR analysis examined genetic associations between maternal serum bilirubin (direct and total) and miscarriage. Genetic instruments were derived from genome-wide association studies (GWAS). LDSC was used to assess shared genetic architecture. Odds ratios (OR) and p values were employed to determine statistical significance. Results: Elevated maternal direct bilirubin levels were significantly associated with sporadic miscarriage (OR = 1.028, p = 0.019) and recurrent miscarriage (OR = 1.016, p = 0.005). Similarly, maternal total bilirubin was linked to sporadic miscarriage (OR = 1.022, p = 0.030) and recurrent miscarriage (OR = 1.013, p = 0.007). In contrast, reverse MR showed no significant association between maternal bilirubin level and miscarriage. Furthermore, LDSC confirmed no shared genetic architecture. Conclusion: Elevated maternal serum bilirubin may increase miscarriage risk, warranting further investigation.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"287-299"},"PeriodicalIF":0.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144095539","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}

引用次数: 0

Umbilical Cord Hypercoiling with Stricture and Intrauterine Fetal Death: Association with Maternal Factors and Implications for Pathogenesis. 脐带过盘伴狭窄和宫内胎儿死亡：与母体因素的关联及其发病机制。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-07-01 Epub Date: 2025-05-21 DOI: 10.1080/15513815.2025.2507250

Aidan Clement, Art Mendoza, Chris Wixom, Peilin Zhang

{"title":"Umbilical Cord Hypercoiling with Stricture and Intrauterine Fetal Death: Association with Maternal Factors and Implications for Pathogenesis.","authors":"Aidan Clement, Art Mendoza, Chris Wixom, Peilin Zhang","doi":"10.1080/15513815.2025.2507250","DOIUrl":"10.1080/15513815.2025.2507250","url":null,"abstract":"Introduction: Hypercoiling of umbilical cord with stricture (HCS) is one of the most common etiologies of intrauterine fetal death (IUFD). Whether Wharton's Jelly close to fetal abdomen plays roles in pathogenesis is controversial. Methods: Fetal autopsies were reviewed between 2015 and 2022 and HCS with maternal and fetal factors were examined to determine if these factors were relevant to HCS and IUFD. Results: Totally 389 fetal autopsies were reviewed and 75 cases of HCS were identified. HCS was found more frequently in older (maternal age ≥35) multiparous women with longer cords and increased umbilical coiling index (UCI) (both p < 0.01). There was no significant difference in maternal race/ethnicity, BMI, fetal sex, genetics, seasonality, multiple pregnancies or anomalies in HCS. Conclusions: HCS appeared related to maternal characteristics and it occurred more frequently in older multiparous women associated with longer cords. Lack or poorly developed Wharton's jelly close to fetal abdomen plays important role in IUFD.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"300-311"},"PeriodicalIF":0.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144112573","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}

引用次数: 0

Prenatal Findings and Perinatal Outcomes of Rare Autosomal Trisomies: A Retrospective Cohort Study. 罕见常染色体三体的产前发现和围产期结局：一项回顾性队列研究。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-07-01 Epub Date: 2025-06-19 DOI: 10.1080/15513815.2025.2520251

Sevim Tuncer Can, Hakan Golbasi, Burak Bayraktar, Berk Ozyilmaz, Ibrahim Omeroglu, Raziye Torun, Ceren Saglam, Ilayda Gercik, Orhan Nural, Hale Ankara Aktas, Atalay Ekin

{"title":"Prenatal Findings and Perinatal Outcomes of Rare Autosomal Trisomies: A Retrospective Cohort Study.","authors":"Sevim Tuncer Can, Hakan Golbasi, Burak Bayraktar, Berk Ozyilmaz, Ibrahim Omeroglu, Raziye Torun, Ceren Saglam, Ilayda Gercik, Orhan Nural, Hale Ankara Aktas, Atalay Ekin","doi":"10.1080/15513815.2025.2520251","DOIUrl":"10.1080/15513815.2025.2520251","url":null,"abstract":"Objective: To evaluate the incidence, prenatal findings, and pregnancy outcomes of rare autosomal trisomies (RATs).Methods: This retrospective cohort study included cases diagnosed via chorionic villus sampling, amniocentesis, or fetal cord blood sampling. Data collected included maternal demographics, gestational age, first-trimester screening results, ultrasound findings, genetic analyses, and pregnancy outcomes.Results: A total of 354 cases of common trisomies and 18 cases of RATs (trisomies 2, 5, 7, 8, 9, 12, 20, and 22) were identified. Common trisomies were associated with higher maternal age (p = 0.003) and advanced maternal age rates (≥35 years) (p = 0.009). Fetal (61.1% vs. 1.7%) and confined placental mosaicism (22.2% vs. 0.3%) were significantly more frequent in RATs (p < 0.001, for all). Ultrasound anomalies were observed in 11 of 18 (61.1%) RATs, with trisomy 22 frequently involving craniofacial and cardiac abnormalities.Conclusion: RATs display diverse clinical outcomes. Mosaicism and ultrasound findings are critical for assessing prognosis and guiding clinical management.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"357-371"},"PeriodicalIF":0.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144334349","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}

引用次数: 0

Maternal Systemic Lupus Erythematosus and Neonatal Outcomes: A Tertiary Single Center Hospital Experience in Turkey. 母体系统性红斑狼疮和新生儿结局：土耳其三级单中心医院经验。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-07-01 Epub Date: 2025-05-30 DOI: 10.1080/15513815.2025.2507276

Gizem Kavram, Beril Yaşa, Elmas Zeynep İnce, Elif Kirit, Meltem Bor, Leyla Bilgin, Mustafa Törehan Aslan, Emine Asuman Çoban

{"title":"Maternal Systemic Lupus Erythematosus and Neonatal Outcomes: A Tertiary Single Center Hospital Experience in Turkey.","authors":"Gizem Kavram, Beril Yaşa, Elmas Zeynep İnce, Elif Kirit, Meltem Bor, Leyla Bilgin, Mustafa Törehan Aslan, Emine Asuman Çoban","doi":"10.1080/15513815.2025.2507276","DOIUrl":"10.1080/15513815.2025.2507276","url":null,"abstract":"Introduction: Systemic lupus erythematosus (SLE) is an autoimmune disease that predominantly affects women of childbearing age. SLE is associated with many maternal and neonatal morbidities. The aim of this study was to evaluate the neonatal outcomes of infants born to mothers with SLE.Methods: This retrospective cohort study included data on 57 Turkish mother-infant pairs over a 10-year period. Demographic data of the newborns and the presence of neonatal morbidities such as cardiovascular, hematological involvement, and congenital anomalies were the primary outcomes of the study.Results: The median maternal age and gestational age at delivery were 30 (22-43) years and 37.6 (24.1-40.9) weeks, respectively. Thirteen (22.8%) of the mothers were primigravid and 59.6% (n = 34) of the deliveries were by cesarean section. Anti-Ro, anti-La, and anti-dsDNA autoantibodies were present in 38.6% (n = 22) of the mothers. Only one woman developed pre-eclampsia. Nine (15.8%) of the newborns were preterm, 8 (14%) were intrauterine growth restricted. The mean birth weight of the infants was 2846 (675-4240) grams. Three infants (5.2%) required resuscitation in the delivery room. One infant (1.8%) developed a complete atrioventricular block and 1 (1.8%) had esophageal atresia. None of the infants developed the typical rash of neonatal lupus.Conclusions: SLE is an important systemic disease that can complicate pregnancy and neonatal outcomes. Optimal multidisciplinary antenatal care of the mother is essential to improve maternal and fetal outcomes.","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"322-332"},"PeriodicalIF":0.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144182756","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}

引用次数: 0

BCOR-Altered Sarcoma in a 6-Month-Old: Diagnostic Challenges and Morphological Insights. 6个月大的bcor改变肉瘤：诊断挑战和形态学见解。

IF 0.7 4区医学

Fetal and Pediatric Pathology Pub Date : 2025-07-01 Epub Date: 2025-06-03 DOI: 10.1080/15513815.2025.2512344

Shiv Shankar Verma, Lavleen Singh, Aditya Gupta

引用次数: 0