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1.
Sci Rep ; 14(1): 8411, 2024 04 10.
Artigo em Inglês | MEDLINE | ID: mdl-38600369

RESUMO

The primary aim of this study was to estimate the incidence of posterior fossa anomalies (PFA) and assess the associated outcomes in King Abdulaziz Medical City (KAMC), Riyadh. All fetuses diagnosed by prenatal ultrasound with PFA from 2017 to 2021 in KAMC were analyzed retrospectively. PFA included Dandy-Walker malformation (DWM), mega cisterna magna (MCM), Blake's pouch cyst (BPC), and isolated vermian hypoplasia (VH). The 65 cases of PFA were 41.5% DWM, 46.2% MCM, 10.8% VH, and 1.5% BPC. The annual incidence rates were 2.48, 2.64, 4.41, 8.75, and 1.71 per 1000 anatomy scans for 2017, 2018, 2019, 2020, and 2021, respectively. Infants with DWM appeared to have a higher proportion of associated central nervous system (CNS) abnormalities (70.4% vs. 39.5%; p-value = 0.014) and seizures than others (45% vs. 17.9%; p-value = 0.041). Ten patients with abnormal genetic testing showed a single gene mutation causing CNS abnormalities, including a pathogenic variant in MPL, C5orf42, ISPD, PDHA1, PNPLA8, JAM3, COL18A1, and a variant of uncertain significance in the PNPLA8 gene. Our result showed that the most common PFA is DWM and MCM. The autosomal recessive pathogenic mutation is the major cause of genetic disease in Saudi patients diagnosed with PFA.


Assuntos
Síndrome de Dandy-Walker , Malformações do Sistema Nervoso , Gravidez , Feminino , Recém-Nascido , Humanos , Estudos Retrospectivos , Síndrome de Dandy-Walker/diagnóstico por imagem , Síndrome de Dandy-Walker/epidemiologia , Síndrome de Dandy-Walker/genética , Diagnóstico Pré-Natal , Feto/patologia , Ultrassonografia Pré-Natal , Imageamento por Ressonância Magnética
2.
BMJ Case Rep ; 17(3)2024 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-38490704

RESUMO

A term neonate with history of ventriculomegaly in the fetal period was diagnosed with a central nervous system tumour after radiological investigations. It was confirmed as an immature teratoma after histopathological examination. He underwent left frontal craniotomy with tumour excision. Intraoperatively, massive haemorrhage (venous bleed) occurred due to the high vascularity of the tumour and led to haemodynamic instability. A massive transfusion protocol was initiated. Despite multiple transfusions and shock management, he succumbed at 2 weeks of life. This case report highlights the importance of antenatal diagnosis and fetal MRI in prognostication and also the possible role of neoadjuvant chemotherapy in reducing tumour vascularity and, hence, bleeding.


Assuntos
Neoplasias Encefálicas , Hidrocefalia , Teratoma , Masculino , Recém-Nascido , Humanos , Gravidez , Feminino , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/cirurgia , Teratoma/diagnóstico por imagem , Teratoma/cirurgia , Diagnóstico Pré-Natal , Feto/patologia
3.
Arq Bras Cardiol ; 121(1): e20220469, 2024.
Artigo em Português, Inglês | MEDLINE | ID: mdl-38536996

RESUMO

BACKGROUND: This was a 30-year retrospective cohort study that approximates closely to the natural history of cardiac tumors diagnosed in the fetus, since there was no case of pregnancy interruption. OBJECTIVE: To assess morbidity and mortality in the perinatal period and at long term in fetuses diagnosed with cardiac tumor. Our secondary objective was to assess the evaluating factors of perinatal and postnatal results. METHODS: This was a retrospective cohort study with 74 pregnant women with an echocardiographic diagnosis of fetal cardiac tumor at two referral centers between May 1991 and November 2021. A descriptive analysis was performed, and data were expressed as absolute (n) and relative (%) frequencies, median and interquartile range. Fisher's exact test was used to evaluate the association of echocardiographic characteristics and clinical manifestations with perinatal and postnatal results. Global survival was calculated using the Kaplan-Meier method and the curves were compared by the log-rank test. The time of follow-up, calculated in months, corresponded to the time elapsed from hospital discharge to current status (survived/ censoring or death). The level of significance was set at 5% (p<0.05). RESULTS: Rhabdomyoma is the most common type of cardiac tumor (85%), with a high morbidity (79.3%) and overall mortality of 17.4%. The presence of fetal hydrops was a predictor of death. CONCLUSION: The presence of fetal hydrops had an impact on mortality, and hence is an important factor in counselling and determining the prognosis. Most deaths occurred before hospital discharge.


FUNDAMENTO: Seguimento de coorte retrospectiva de 30 anos que se aproxima da história natural dos tumores cardíacos diagnosticados no feto uma vez que nenhum caso foi submetido à interrupção da gestação. OBJETIVO: Avaliar a morbidade e mortalidade perinatal e em longo prazo em fetos com diagnóstico de tumor cardíaco. Como objetivo secundário avaliar os fatores que influenciaram os resultados perinatais e pós-natais. MÉTODO: Estudo de coorte retrospectiva envolvendo 74 gestantes com diagnóstico ecocardiográfico fetal de tumor cardíaco acompanhadas em dois serviços de referência no período de maio de 1991 a novembro de 2021. Foi realizada análise descritiva dos dados por meio de frequências absolutas (n) e relativas (%), mediana e intervalos interquartis. Para avaliar a associação entre as características ecocardiográficas e as manifestações clínicas com os resultados perinatais e pós-natais, foi aplicado o teste exato de Fisher. O cálculo da sobrevida global foi realizado pelo método de Kaplan-Meier e a comparação de curvas pelo teste de log-rank. O tempo de seguimento, calculado em meses, foi definido a partir da data de alta do hospital à data do status atual (vivo/censura ou óbito). O nível de significância considerado foi de 5% (p<0,05). RESULTADOS: o rabdomioma é o tipo mais frequente (85%) de tumor cardíaco; apresenta alta morbidade (79,3%) e mortalidade geral de 17,4%; a presença de hidropisia fetal preditiva de óbito. CONCLUSÃO: A presença de hidropisia fetal teve impacto na mortalidade, sendo fator importante para aconselhamento e estabelecimento de prognóstico. A maioria dos óbitos ocorrem antes da alta hospitalar.


Assuntos
Neoplasias Cardíacas , Hidropisia Fetal , Gravidez , Humanos , Feminino , Estudos de Coortes , Seguimentos , Estudos Retrospectivos , Feto/patologia , Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/patologia , Ultrassonografia Pré-Natal
4.
Eur J Obstet Gynecol Reprod Biol ; 296: 158-162, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38442533

RESUMO

INTRODUCTION: Missed abortion (MA) is a type of miscarriage with multiple etiological factors that refers to fetal death with a failure of the retained intrauterine product of conception to be discharged spontaneously. Currently fetal death in missed abortion is categorized according to three main causes: Fetal, placental, and maternal factors. The aim of the current study was to contribute and increase knowledge in clinical practice of late first and second trimester MA (Gestational age: week 11 + 0 - week 20 + 6). MATERIAL AND METHODS: This retrospective case series study includes 794 cases of fetuses and matching placentas sent to the Section of Perinatal Pathology, Department of Pathology, Karolinska Hospital between 2003 and 2019 from five different gynecology departments in the Stockholm region, Sweden. RESULTS: The cases were divided into two groups according to gestational length; gestational week 11 + 0-14 + 6 (group A) and 15 + 0-20 + 6 (group B) respectively, and comparisons were made between groups. Fetal growth restriction and placental pathology were more common in late MA, but number of cases with malformation were higher in early MA. Cord pathology was seen in approximately 40 % of the cases and equally distributed in the gestational weeks included. DISCUSSION: Fetal growth restriction and placental pathology were more common in late second trimester MA. This might demonstrate an early placental dysfunction affecting fetal growth and may be associated to maternal comorbidity such as autoimmune disease and cardiovascular disease. It is advisable to investigate maternal factors more closely after late second trimester MA before a future pregnancy. The risk for recurrent MA is believed to be low in cases of significant cord pathology. CONCLUSION: Cord complications were over-represented in missed abortion suggesting a probable etiopathogenetic link to fetal demise in this condition.


Assuntos
Aborto Habitual , Aborto Retido , Gravidez , Feminino , Humanos , Placenta/patologia , Aborto Retido/patologia , Retardo do Crescimento Fetal/patologia , Estudos Retrospectivos , Feto/patologia , Morte Fetal/etiologia , Autopsia
5.
Taiwan J Obstet Gynecol ; 63(2): 229-233, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38485320

RESUMO

OBJECTIVE: Bronchogenic cysts are rare congenital abnormalities, and usually asymptomatic until adulthood. We present a fetus prenatally diagnosed with a bronchogenic cyst, experiencing compression symptoms immediately after birth and underwent thoracoscopic surgery at 14 days old. CASE REPORT: A 33-year-old primigravida had a suspicion of fetal tracheal cyst. Prenatal ultrasound scan revealed a cyst near the trachea at 23 weeks' gestation. Fetal MRI defined a cystic lesion in the upper mediastinum, displacing surrounding vessels. A 3,940 g girl was delivered vaginally at 38 weeks' gestation. Shortly after birth, she developed respiratory distress, and imaging revealed a mediastinal cyst compressing the trachea and esophagus. The cyst was successfully removed through video-assisted thoracoscopic surgery at 14 days old, and pathology confirmed it as a bronchogenic cyst. Follow-up images demonstrated well-aerated lungs. At present, this 1-year-old girl develops normally without respiratory symptoms. CONCLUSION: Early detection in utero, accurate diagnosis, and timely management are crucial for bronchogenic cysts in neonates.


Assuntos
Cisto Broncogênico , Recém-Nascido , Gravidez , Feminino , Humanos , Adulto , Lactente , Cisto Broncogênico/diagnóstico por imagem , Cisto Broncogênico/cirurgia , Diagnóstico Pré-Natal , Pulmão , Ultrassonografia Pré-Natal , Feto/patologia
6.
Taiwan J Obstet Gynecol ; 63(2): 238-241, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38485322

RESUMO

OBJECTIVE: Kleefstra syndrome (KS), formerly known as 9q subtelomeric deletion syndrome, is characterized by multiple structural abnormalities. However, most fetuses do not have obvious abnormal phenotypes. In this study, the fetus with KS presented with multiple system structural anomalies, and we aimed to explore the genotype-phenotype correlations of KS fetuses. CASE REPORT: Multiple systematic structural anomalies, including severe intrauterine growth restriction (IUGR) and cardiac defects, were detected by ultrasound in the fetus at 33 + 5 weeks' gestation. These abnormalities may be caused by the pathogenic deleted fragment at 9q34.3, including the euchromatic histone methyltransferase 1 (EHMT1) and collagen type V alpha 1 chain (COL5A1) genes, detected by copy number variation sequencing (CNV-seq). CONCLUSIONS: It is essential for clinicians to perform CNV-seq combined with multidisciplinary consultation for suspected KS fetuses, especially those with multiple systematic structural anomalies.


Assuntos
Anormalidades Múltiplas , Anormalidades Craniofaciais , Cardiopatias Congênitas , Deficiência Intelectual , Humanos , Variações do Número de Cópias de DNA , Cardiopatias Congênitas/genética , Deleção Cromossômica , Deficiência Intelectual/genética , Anormalidades Múltiplas/genética , Feto/patologia , Estudos de Associação Genética , Cromossomos Humanos Par 9/genética
7.
Int J Mol Sci ; 25(5)2024 Feb 24.
Artigo em Inglês | MEDLINE | ID: mdl-38473883

RESUMO

Congenital cytomegalovirus (CMV) infection is the main cause of non-hereditary sensorineural hearing loss (SNHL). In order to shed light on SNHL pathophysiology, we examined the auditory pathway in CMV-infected fetuses; the temporal lobe, in particular the auditory cortex, and the inner ear. We investigated both inner ears and temporal lobes of 20 human CMV-infected fetuses at 21 weeks of gestation. As a negative group, five fetuses from spontaneous miscarriages without CMV infection were studied. Inner ears and temporal lobes were histologically examined, immunohistochemistry for CMV and CMV-PCR were performed. On the auditory cortex, we evaluated the local microglial reaction to the infection. CMV-positive cells were found in 14/20 brains and the damage was classified as severe, moderate, or mild, according to histological features. Fetuses with severe brain damage had a statistically higher temporal lobe viral load and a higher number of activated microglial cells in the auditory cortex compared to fetuses with mild brain damage (p: 0.01; p: 0.01). In the inner ears, the marginal cells of the stria vascularis were the most CMV positive. In our study, CMV affected the auditory pathway, suggesting a tropism for this route. In addition, in the auditory cortex, microglial activation may favor further tissue damage contributing to hearing loss.


Assuntos
Infecções por Citomegalovirus , Perda Auditiva Neurossensorial , Humanos , Citomegalovirus , Vias Auditivas/patologia , Perda Auditiva Neurossensorial/etiologia , Feto/patologia
8.
Curr Med Imaging ; 20: 1-4, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38389365

RESUMO

BACKGROUND: Dural sinus malformation (DSM) is a rather rare congenital condition that can be encountered in the fetus and infants. The cause and etiology of DSM remain unclear. Obstetric ultrasound plays a key role in screening fetal brain malformations, and MRI is frequently used as a complementary method to confirm the diagnosis and provide more details. OBJECTIVE: Here, we present a fetus with DSM by multiple imaging methods to help better understand the imaging characteristics of this malformation. CASE PRESENTATION: A 22-year-old primipara was referred to our hospital at 25 weeks of gestation following the detection of a fetal intracranial mass without any symptoms. A prenatal ultrasound performed in our hospital at 25 + 2 gestational weeks showed a large anechoic mass with liquid dark space, while no blood flow was detected. After the initial evaluation, this primipara received a prenatal MRI in our hospital. This examination at 25 + 5 gestational weeks delineated a fan-shaped mass in the torcular herophili, which was iso-to hyperintense on T1WI and hypointense on T2WI. At the lower part of this lesion, a quasi-circular hyperintense on T1WI and a signal slightly hyperintense on T2WI could be seen. Meanwhile, the adjacent brain parenchyma was compressed by the mass. CONCLUSION: We reviewed the current literature to obtain a better understanding of the mechanisms, imaging characteristics, and survival status of DSM. Although the primipara of the present study regretfully opted for elective termination of pregnancy, the reevaluation of DSM survival deserves more attention because of the better survival data from recent studies.


Assuntos
Malformações Vasculares do Sistema Nervoso Central , Imageamento por Ressonância Magnética , Adulto , Feminino , Humanos , Lactente , Gravidez , Adulto Jovem , Cavidades Cranianas/diagnóstico por imagem , Cavidades Cranianas/anormalidades , Cavidades Cranianas/patologia , Feto/patologia , Imageamento por Ressonância Magnética/métodos , Ultrassonografia Pré-Natal/métodos
9.
J Obstet Gynaecol Res ; 50(4): 751-757, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38263573

RESUMO

We report a case of fetal nasal chondromesenchymal hamartoma (NCMH) first noted on prenatal ultrasound at 34 weeks. A solid-cystic mass which predominantly hyperechoicgenic and relatively clear margin, was located on the left nasal cavity and pharynx, with anterior extension and moderate blood flow. Further follow-up ultrasound examination depicted an enlargement of the tumor. Fetal magnetic resonance imaging (MRI) showed an inhomogeneous signal lesion involving the ethmoid sinuses, nasal cavity, and pharynx. The infant, delivered via cesarean section at 37 + 5 weeks, required urgent neonatology intervention due to respiratory difficulties. Neonatal MRI and computer tomography were subsequently performed at 1 day after birth. Surgical excision occurred at 7 days, confirming NCMH via histological examination. Awareness of this entity, is essential to avoid potentially harmful therapies, especially in prenatal period. Considered NCMH in diagnosis when fetal nasal masses presenting with predominantly high-level echo, well-defined margins and moderate vascularity.


Assuntos
Cesárea , Hamartoma , Gravidez , Lactente , Recém-Nascido , Humanos , Feminino , Diagnóstico Diferencial , Hamartoma/diagnóstico por imagem , Hamartoma/patologia , Feto/patologia , Diagnóstico Pré-Natal , Imageamento por Ressonância Magnética
10.
Vet Res Commun ; 48(1): 449-457, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37831381

RESUMO

Akabane virus (AKAV) is known as a major teratogenic agent of ruminant fetuses. In this study, we investigated the relationship between porcine abnormal deliveries and AKAV by serology, pathology, and virology investigations using specimens from 16 stillborn fetuses delivered in southern Japan between 2013 and 2015. The major clinical manifestations in stillborn fetuses were hydranencephaly, arthrogryposis, spinal curvature, and both skeletal muscle and subcutaneous edema. Histologic examination of the specimens identified atrophy of skeletal muscle fibers accompanied by adipose replacement. Nonsuppurative encephalomyelitis and decreased neuronal density in the ventral horn of the spinal cord were shown in two separate fetuses, respectively. Neutralizing antibody titers to AKAV were detected in most of the tested fetuses (13/16). The AKAV sequences detected in the affected fetuses in 2013 and 2015 were highly identical and closely related to Japanese AKAV isolates which were isolated in 2013 and sorted into genogroup I of AKAV. Immunohistochemistry visualized AKAV antigens in the neuronal cells of the central nervous system of the fetuses. These findings indicate that AKAV was involved in the birth of abnormal piglets at the affected farm. The clinical manifestations and histopathological features in the stillborn fetuses were very similar to those in ruminant neonates affected by AKAV. To avoid misdiagnosis and to evaluate the precise impact of AKAV on pig reproduction, AKAV should be considered in differential diagnoses of reproductive failures in pigs.


Assuntos
Infecções por Bunyaviridae , Orthobunyavirus , Doenças dos Suínos , Animais , Infecções por Bunyaviridae/diagnóstico , Infecções por Bunyaviridae/veterinária , Infecções por Bunyaviridae/patologia , Feto/patologia , Japão/epidemiologia , Ruminantes , Suínos , Doenças dos Suínos/diagnóstico
11.
J Obstet Gynaecol Res ; 50(3): 342-350, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38062975

RESUMO

AIMS: The study aims to evaluate the genetic and clinical outcomes of fetal cardiac rhabdomyoma in our tertiary center. METHODS: Data of cases with cardiac rhabdomyoma detected by fetal echocardiography during antenatal follow-up were analyzed retrospectively. RESULTS: Nine cases were included in the study. The incidence of cardiac rhabdomyoma was 0.003%. The median fetal diagnosis time was 26th weeks, the most common location was the LV. There was no hemodynamic disorder requiring cardiovascular intervention in any of the cases. Of the eight genetically tested cases, four were tuberous sclerosis complex (TSC) gene-negative, one hereditary TSC2, one de novo TSC1, and two de novo TSC2 gene mutants. Postnatal first-year survival rate of the cases was 88.8%. CONCLUSIONS: Cardiac rhabdomyoma is a rare fetal and pediatric pathology that generally is a remarkable finding in the clinical process of TSC. Therefore, cases should be evaluated multisystemically and genetic counseling should be given to the family.


Assuntos
Doenças Fetais , Neoplasias Cardíacas , Rabdomioma , Esclerose Tuberosa , Criança , Gravidez , Humanos , Feminino , Rabdomioma/diagnóstico por imagem , Rabdomioma/genética , Estudos Retrospectivos , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/genética , Esclerose Tuberosa/complicações , Esclerose Tuberosa/genética , Feto/patologia , Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/genética
12.
Pediatr Dev Pathol ; 27(1): 67-76, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37771167

RESUMO

Lymphoma is the fourth most common tumor to display placental metastasis. This study aimed to report a case of high-grade lymphoma involving the placenta and review the literature on lymphomas metastatic to the placenta. A systematic review was performed following the PRISMA guidelines, using the keywords "lymphoma" AND "placenta." All case reports and case series on lymphoma infiltrating the placenta were collected. Eight cases from 7 studies, including the present case, were synthesized. The mean patient age is 29.5 years. The clinical presentation is non-specific. Hematologic derangements included cytopenias or cytoses, and elevated prothrombin time. The mean gestational age (GA) when a diagnosis of lymphoma was rendered is 27 weeks. Five cases presented with either lymphadenopathy or visceral masses on imaging. Four of these cases eventually led to maternal demise. The mean GA when the fetus was delivered is 31 3/4 weeks. Grossly, most placentas had non-specific findings. Leukemic infiltrates were mostly seen within intervillous spaces. Intravillous infiltrates were associated with high-grade lymphomas, resulting in either maternal demise or stillborn fetuses. This study suggests that the placenta has mechanisms to guard against malignancies; however, these defense mechanisms are not foolproof and may be breached by tumor cells.


Assuntos
Linfoma , Neoplasias , Doenças Placentárias , Gravidez , Feminino , Humanos , Adulto , Lactente , Placenta/patologia , Doenças Placentárias/patologia , Neoplasias/patologia , Feto/patologia , Linfoma/diagnóstico , Linfoma/patologia
13.
Pediatr Dev Pathol ; 27(1): 23-31, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37818682

RESUMO

INTRODUCTION: Skeletal growth arrest lines (GAL) are transverse lines of metaphyseal radiodensity accompanying episodic severe physiological stress. They are poorly described in fetal remains. MATERIALS AND METHODS: We searched our autopsy practice for instances of fetal GAL in post mortem radiology, and correlated them with long bone histology and placental pathology. We describe the appearance, distribution, and pathology of GAL in a cohort of fetal autopsies, and compare the placental pathology accompanying GAL to the placental pathology of asymmetrical growth restriction (AGR) in the same time period. RESULTS: In 2108 consecutive fetal post mortems, we found 20 cases with GAL. About 16 were in singletons with AGR. In these 16, the distribution of placental pathologies was similar to a contemporaneous cohort of 113 cases with AGR. Of the remaining 4, two twins out of 9 sets of monochorionic twins with AGR demonstrated GAL. One case of GAL had symmetrical growth restriction with cytomegalovirus infection, and one case had no AGR and an old, unexplained retroplacental hemorrhage. On histology, GAL are characterized by a region of mineralized chondroid, which is variably incorporated into irregular trabecular bone. DISCUSSION: GALs accompany a variety of placental pathologies and twin-twin transfusion, suggesting episodic disease progression.


Assuntos
Transfusão Feto-Fetal , Placenta , Gravidez , Feminino , Humanos , Placenta/patologia , Transfusão Feto-Fetal/patologia , Feto/patologia , Retardo do Crescimento Fetal/patologia
14.
Stem Cells Transl Med ; 13(3): 268-277, 2024 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-38103168

RESUMO

Fetal spinal cord ischemia is a serious medical condition that can result in significant neurological damage and adverse outcomes for the fetus. However, the lack of an appropriate experimental model has hindered the understanding of the pathology and the development of effective treatments. In our study, we established a system for screening drugs that affect fetal spinal cord ischemia using spinal cord organoids. Importantly, we produced necrotic core-free human spinal cord organoids (nf-hSCOs) by reducing the organoid size to avoid potential complications of spontaneous necrosis in large organoids. Exposing nf-hSCOs to CoCl2 as a hypoxia mimetic and hypoglycemic conditions resulted in significant neuronal damage, as assessed by multiple assay batteries. By utilizing this model, we tested chemicals that have been reported to exhibit beneficial effects in brain organoid-based ischemia models. Surprisingly, these chemicals did not provide sufficient benefit, and we discovered that rapamycin is a mild neuroprotective reagent for both axon degeneration and neuronal survival. We propose that nf-hSCO is suitable for large-scale screening of fetal neural ischemia due to its scalability, ease of ischemic induction, implementation of quantifiable assay batteries, and the absence of spontaneous necrosis.


Assuntos
Isquemia , Isquemia do Cordão Espinal , Humanos , Isquemia/patologia , Isquemia do Cordão Espinal/etiologia , Isquemia do Cordão Espinal/patologia , Isquemia do Cordão Espinal/prevenção & controle , Medula Espinal/patologia , Necrose/complicações , Necrose/patologia , Feto/patologia , Organoides/patologia
15.
Cardiovasc Pathol ; 68: 107586, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37926350

RESUMO

Primary cardiac tumors are uncommon clinical entities with an incidence of 0.0017% to 0.03% of all autopsies. Cystic tumor of the atrioventricular node (CTAVN) comprises of 2.7% of cardiac tumors causing sudden death associated with complete heart block. CTAVN is a congenital benign cystic and solid mass located in the triangle of Koch in atrioventricular nodal region of the heart. It has been described from infancy to adulthood, most often as an incidental finding at autopsy, but has been not yet described in fetuses. We report a case of late spontaneous abortion detected during the first ultrasound follow-up consultation at 12w+1d of gestation in a healthy 23-year-old pregnant woman, gravida 2 para 0 and one previous termination of pregnancy. Pathological study of abortion product was request. No abnormalities were detected on gross examination, but microscopically, characteristics features of cardiac cystic and solid tumor of the atrioventricular node were identified. We present the first case described in literature of a congenital benign CTAVN in a non-macerate, normal, female fetus with an appropriate growth and development for 12w+1d of gestational age. There are many reasons for performing a fetal post-mortem autopsy foremost of which is identifying an accurate cause of death.


Assuntos
Cistos , Neoplasias Cardíacas , Gravidez , Humanos , Feminino , Adulto Jovem , Adulto , Idade Gestacional , Nó Atrioventricular , Feto/anormalidades , Feto/patologia , Neoplasias Cardíacas/patologia , Cistos/complicações , Autopsia
16.
Int J Mol Sci ; 24(23)2023 Nov 29.
Artigo em Inglês | MEDLINE | ID: mdl-38069249

RESUMO

Seizures are common in preterm newborns and are associated with poor neurodevelopmental outcomes. Current anticonvulsants have poor efficacy, and many have been associated with upregulation of apoptosis in the developing brain. Apigenin, a natural bioactive flavonoid, is a potent inhibitor of hyaluronidase and reduces seizures in adult animal models. However, its impact on perinatal seizures is unclear. In the present study, we examined the effect of apigenin and S3, a synthetic, selective hyaluronidase inhibitor, on seizures after cerebral ischemia in preterm fetal sheep at 0.7 gestation (98-99 days, term ~147 days). Fetuses received sham ischemia (n = 9) or ischemia induced by bilateral carotid occlusion for 25 min. Immediately after ischemia, fetuses received either a continuous infusion of vehicle (0.036% dimethyl sulfoxide, n = 8) or apigenin (50 µM, n = 6). In a pilot study, we also tested infusion of S3 (2 µM, n = 3). Fetuses were monitored continuously for 72 h after ischemia. Infusion of apigenin or S3 were both associated with reduced numbers of animals with seizures, total seizure time, and mean seizure burden. S3 was also associated with a reduction in the total number of seizures over the 72 h recovery period. In animals that developed seizures, apigenin was associated with earlier cessation of seizures. However, apigenin or S3 treatment did not alter recovery of electroencephalographic power or spectral edge frequency. These data support that targeting brain hyaluronidase activity with apigenin or S3 may be an effective strategy to reduce perinatal seizures following ischemia. Further studies are required to determine their effects on neurohistological outcomes.


Assuntos
Apigenina , Hipóxia-Isquemia Encefálica , Gravidez , Feminino , Ovinos , Animais , Apigenina/farmacologia , Apigenina/uso terapêutico , Hialuronoglucosaminidase , Projetos Piloto , Convulsões/tratamento farmacológico , Feto/patologia , Isquemia , Eletroencefalografia , Hipóxia-Isquemia Encefálica/patologia
17.
BMJ Case Rep ; 16(12)2023 Dec 30.
Artigo em Inglês | MEDLINE | ID: mdl-38160039

RESUMO

This case involves a pregnant patient in her late 20s whose pregnancy was complicated by placentamegaly and early-onset, severe fetal growth restriction (FGR). Investigations ruled out genetic and infectious aetiologies. The pregnancy eventually was further complicated by abnormal umbilical artery blood flow. Shared decision-making with the patient and obstetrical team led to delivery by caesarean section at 28 weeks and 4 days. The baby was admitted to the neonatal intensive care unit but, overall, did well. Placental pathology revealed a massive subchorionic thrombohaematoma (MST). This case highlights the importance of early detection, evaluation and management of pregnancies complicated by severe FGR as well as the significance of shared decision-making with patients. We aim to increase the awareness of MST in the differential diagnosis of placentamegaly, as this finding in combination with early and severe FGR has been shown to be a poor prognostic factor for the fetus.


Assuntos
Doenças Placentárias , Placenta , Recém-Nascido , Gravidez , Humanos , Feminino , Placenta/patologia , Cesárea , Feto/patologia , Doenças Placentárias/diagnóstico , Doenças Placentárias/patologia , Retardo do Crescimento Fetal
18.
Medicine (Baltimore) ; 102(47): e35855, 2023 Nov 24.
Artigo em Inglês | MEDLINE | ID: mdl-38013270

RESUMO

RATIONALE: Hemangioma is a common benign disease in clinical practice, but it is rare to find a giant hemangioma in the fetal period. PATIENT CONCERNS: Here, we report a case of a giant hemangioma of the fetal head and neck measuring approximately 10.1 × 6.5 cm. DIAGNOSES: At first, only ultrasonography was used to diagnose the suspected hemangioma. The pregnant woman refused to undergo further testing and requested induction of labor, after which the tumor was finally sent for pathological examination to confirm hemangioma. INTERVENTIONS AND OUTCOMES: Additionally, the fetus developed severe edema (fluid accumulation in the thoracic, abdominal, and pericardial cavities), which can be fatal to the fetus. Finally, the mother refused to continue the pregnancy and underwent induction of labor with rivanol. LESSONS: Most hemangiomas are small and asymptomatic. Giant hemangiomas are rare and associated with a variety of maternal and fetal complications. Therefore, this article aims to summarize the knowledge related to hemangioma through this case, strengthen doctors' understanding of this disease, and bring the attention of pregnant women to this disease to ensure early diagnosis and treatment and prevent a poor prognosis.


Assuntos
Hemangioma Cavernoso , Hemangioma , Humanos , Feminino , Gravidez , Hemangioma/diagnóstico por imagem , Hemangioma/patologia , Pescoço/patologia , Feto/patologia , Cabeça/diagnóstico por imagem , Cabeça/patologia
19.
BMC Pregnancy Childbirth ; 23(1): 818, 2023 Nov 25.
Artigo em Inglês | MEDLINE | ID: mdl-38007414

RESUMO

BACKGROUND: Abnormal foetal tissue chromosome karyotypes are one of the important pathogenic factors for spontaneous abortion (SA). To investigate the age and abnormal foetal karyotypes of 1903 couples who experienced SA. METHODS: A retrospective multicentre study collected age and foetal tissue karyotypes CNV-seq data of 1903 SA couples from 6 hospitals in 5 regions from January 2017 to March 2022. The distribution and correlation of abnormal foetal tissue karyotypes were evaluated by using regions and age. RESULTS: In our study, 1140 couples (60.5% of the total) had abnormal foetal tissue chromosome karyotypes in all regions. We found that there were differences in the number of abnormal foetal tissue chromosome karyotypes, of which the incidence of trisomy was higher. At the same time, the populations situated in the eastern region had a more triploid (15.5%) distribution, trisomy (58.1%) in the southern region, mosaicism (14.8%) and microduplication (31.7%) in the southwestern region, microdeletion (16.7%) in the northern region. There are variances across areas, and it is more common in the north. The incidence risk of prenatal chromosomal abnormalities varied according to age group. CONCLUSION: The findings of this study suggest that the karyotypes of patients with abnormal foetal tissue chromosome abortion in different regions were different. Meanwhile, patients ≥ 35 years old had a higher risk of abnormal foetal tissue chromosome abortion.


Assuntos
Aborto Espontâneo , Gravidez , Feminino , Humanos , Adulto , Aborto Espontâneo/epidemiologia , Aborto Espontâneo/genética , Trissomia/genética , Mosaicismo , Feto/patologia , Cromossomos
20.
Medicine (Baltimore) ; 102(44): e35072, 2023 Nov 03.
Artigo em Inglês | MEDLINE | ID: mdl-37933051

RESUMO

RATIONALE: A pregnancy with incomplete mole is very rare case. Hydatidiform mole (HM) with live fetus is associated with a risk of a wide variety to maternal and fetal complications. The incidence of a normal live fetus and an incomplete mole such as the case we describe is extremely rare. PATIENT CONCERN: We report a case of multiparous 34-year-old at Culiacan Mexico woman with incomplete mole coexisting with normal fetus, pregnant 35.3 weeks who presented anemia grade II. DIAGNOSIS: The initial diagnosis of the mole was by ultrasound. INTERVENTIONS: KERR-type cesarean section and bilateral tubal occlusion. The newborn was morphologically normal, and she did not require intervention or treatment. OUTCOMES: The newborn was feminine, morphologically normal, weighing 2380 g and 47 cm, APGAR score 8 to 9, delivered prematurely, and there was a large placental plate. The blood loss on surgery was estimated at 1000 mL. Histopathology report of an incomplete hydatidiform mole, negative for malignancy. Histopathology diagnostic was confirmed by immunohistochemistry staining for p57KIP2. LESSONS: Although the incidence of this pregnancy is very rare, early recognition, diagnosis and divulge of the cases of medical community is very important for patient care.


Assuntos
Mola Hidatiforme , Neoplasias Uterinas , Recém-Nascido , Gravidez , Feminino , Humanos , Adulto , Gravidez de Gêmeos , Neoplasias Uterinas/patologia , Cesárea , Placenta/patologia , Mola Hidatiforme/diagnóstico , Feto/patologia
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