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OBJECTIVES: There is a paucity of literature providing evidence-based guidelines for the management of large placental chorioangioma (≥ 4 cm in diameter). The objectives of this study were to compare outcomes between patients managed expectantly and those undergoing in-utero intervention and to describe the different in-utero techniques used for cessation of blood flow to the tumor and the associated outcome. METHODS: This was a retrospective cohort study of 34 patients referred for the management of large placental chorioangioma in a single center between January 2011 and December 2022, who were managed expectantly or underwent in-utero intervention. In-utero intervention was performed when the fetus developed any signs of impending compromise, including high combined cardiac output (CCO), worsening polyhydramnios or abnormal fetal Doppler velocimetry findings. Interventions included radiofrequency ablation (RFA), interstitial laser ablation (ILA) and single-port or two-port fetoscopic laser photocoagulation (FLP). Treatment selection was dependent on the proximity of the tumor to the umbilical cord insertion (UCI) and placental location. The two-port technique was performed in patients with a chorioangioma with large feeding vessels (≥ 3 mm) located in the posterior placenta, in which one port was used for occlusion using bipolar forceps and the other port was used for laser photocoagulation of the feeding vessels downstream. The single-port technique was used for chorioangioma with small feeding vessels (< 3 mm) located in the posterior placenta. ILA or RFA was performed in cases with an anterior placenta. Supportive treatments, including amnioreduction and intrauterine transfusion (IUT), were performed for worsening polyhydramnios and suspected fetal anemia based on middle cerebral artery Doppler flow studies, respectively. Comparative statistical analysis between cases undergoing expectant management vs in-utero intervention was performed. Descriptive details were provided for patients who underwent in-utero intervention. RESULTS: Thirty-four cases of large chorioangioma were evaluated, of which 25 (73.5%) were managed expectantly and nine (26.5%) underwent intervention. The frequency of polyhydramnios was significantly higher in the intervention group compared with the expectant-management group (66.7% vs 8.0%, P < 0.001). The live-birth rate among expectantly managed cases with large chorioangioma was significantly higher compared with that in cases that underwent in-utero intervention (96.0% vs 62.5%, P = 0.01). In the intervention group, preoperative CCO was elevated in all cases with available information and preoperative hydrops was present in 33.3% (3/9) of cases. One patient experienced fetal demise following IUT prior to planned FLP. Among the remaining eight patients, four underwent two-port FLP, two underwent single-port FLP, one underwent ILA and one underwent both ILA and RFA. All three cases in which hydrops was present at the time of intervention resulted in fetal demise. CONCLUSIONS: In-utero interventions aimed at cessation of blood flow in the feeding vessels are a therapeutic option for the management of cases with large chorioangioma. The two-port percutaneous technique appears to improve the efficiency of FLP when a large chorioangioma with large feeding vessels is located in the posterior placenta. We propose that in-utero interventions for large chorioangioma should be initiated prior to the development of fetal hydrops. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.
Assuntos
Hemangioma , Doenças Placentárias , Poli-Hidrâmnios , Gravidez , Humanos , Feminino , Placenta/cirurgia , Placenta/patologia , Poli-Hidrâmnios/etiologia , Poli-Hidrâmnios/patologia , Estudos Retrospectivos , Doenças Placentárias/diagnóstico por imagem , Doenças Placentárias/cirurgia , Morte Fetal , Lasers , Hemangioma/diagnóstico por imagem , Hemangioma/cirurgia , EdemaRESUMO
Objective: To investigate the prenatal diagnosis and prognostic factors of fetal sacrococcygeal teratoma (SCT). Methods: A retrospective analysis was performed on 41 pregnant women who were diagnosed with fetal SCT by prenatal ultrasound at the Women's Hospital, Zhejiang University School of Medicine from January 2014 to September 2021. The prenatal imaging features and pregnancy outcomes, including tumor volume to fetal weight ratio (TFR), proportion of solid tumor, tumor growth rate (TGR), fetal hydrops, placentomegaly and polyhydramnios were analyzed. Receiver operating characteristic (ROC) curve was used to determine the critical values of TFR and TGR for predicting adverse fetal outcomes. Results: (1) Among the 41 pregnant women with fetal SCT, the diagnostic gestational week of ultrasound was (24.2±2.9) weeks (range: 18-28 weeks). Among them, 1 case progressed to fetal hydrops and induced labor at 22 weeks of gestation, 1 case developed intrauterine death and induced labor at 29 weeks of gestation, and 39 pregnancies continued until delivery. Among the 39 cases of continued pregnancy, 1 case underwent cesarean section at 31 weeks of gestation due to malignant polyhydramnios and increased fetal cardiothoracic ratio in the third trimester, 1 case underwent cesarean section at 32 weeks of gestation due to fetal heart failure, and 1 case underwent cesarean section at 32 weeks of gestation due to fetal heart failure and hydrops. The other 36 cases underwent surgical resection of tumor within 3 weeks after birth with good prognosis. (2) TFR>0.12 before 28 weeks of gestation could predict poor fetal prognosis, with a sensitivity of 100.0%, a specificity of 86.1% and an area under curve (AUC) of 0.922 (P<0.01). Among the fetuses with TFR>0.12, 5/10 had poor prognosis, while the fetuses with TFR≤0.12 all had good prognosis (100%,31/31), and the difference between the two groups was statistically significant (P<0.001). (3) TGR>48 cm3/week could predict poor fetal prognosis with a sensitivity of 100.0%, a specificity of 78.3% and an AUC of 0.880 (P<0.05). (4) Among the 28 SCT fetuses delivered in our hospital, the incidence rate of poor fetal prognosis was 0 (0/20) in those with solid tumor component<50%, and 5/8 in those with solid tumor component ≥50%, and the difference between the two groups was statistically significant (P<0.01). The incidence rate of poor fetal prognosis was 2/2 in those with placentomegaly (all with fetal hydrops), and 12% (3/26) in those without placentomegaly. The risk of poor fetal prognosis was 8.67 times higher in those with placentomegaly than those without placentomegaly, and the difference between the two groups was statistically significant (P<0.05). The incidence rate of poor fetal prognosis in those with polyhydramnios was 3/7, and 10% (2/21) in those without polyhydramnios, but there was no statistically significant difference between the two groups (P>0.05). Conclusion: TFR combined with solid tumor morphology, TGR, and presence of placentomegaly could predict the adverse pregnancy outcomes of fetal SCT.
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Insuficiência Cardíaca , Neoplasias Pélvicas , Poli-Hidrâmnios , Teratoma , Cesárea/efeitos adversos , Feminino , Feto , Insuficiência Cardíaca/complicações , Insuficiência Cardíaca/patologia , Humanos , Hidropisia Fetal/diagnóstico por imagem , Poli-Hidrâmnios/patologia , Gravidez , Diagnóstico Pré-Natal/métodos , Prognóstico , Estudos Retrospectivos , Região Sacrococcígea/diagnóstico por imagem , Região Sacrococcígea/patologia , Região Sacrococcígea/cirurgia , Teratoma/diagnóstico por imagem , Teratoma/cirurgia , Ultrassonografia Pré-Natal/métodosRESUMO
BACKGROUND: Alterations in the MYH7 gene can cause cardiac and skeletal myopathies. MYH7-related skeletal myopathies are extremely rare, and the vast majority of causal variants in the MYH7 gene are predicted to alter the rod domain of the of ß-cardiac myosin molecule, resulting in distal muscle weakness as the predominant manifestation. Here we describe two unrelated patients harboring an in-frame deletion in the MYH7 gene that is predicted to result in deletion of a single amino acid (p.Glu500del) in the head domain of ß-cardiac myosin. Both patients display an unusual skeletal myopathy phenotype with congenital axial stiffness and muscular hypertonus, but no cardiac involvement. RESULTS: Clinical data, MRI results and histopathological data were collected retrospectively in two unrelated boys (9 and 3.5 years old). Exome sequencing uncovered the same 3-bp in-frame deletion in exon 15 (c.1498_1500delGAG) of the MYH7 gene of both patients, a mutation which deletes a highly conserved glutamate residue (p.Glu500del) in the relay loop of the head domain of the ß-cardiac myosin heavy chain. The mutation occurred de novo in one patient, whereas mosaicism was detected in blood of the father of the second patient. Both boys presented with an unusual phenotype of prenatal polyhydramnios, congenital axial stiffness and muscular hypertonus. In one patient the phenotype evolved into an axial/proximal skeletal myopathy without distal involvement or cardiomyopathy, whereas the other patient exhibited predominantly stiffness and respiratory involvement. We review and compare all patients described in the literature who possess a variant predicted to alter the p.Glu500 residue in the ß-cardiac myosin head domain, and we provide in-silico analyses of potential effects on polypeptide function. CONCLUSION: The data presented here expand the phenotypic spectrum of mutations in the MYH7 gene and have implications for future diagnostics and therapeutic approaches.
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Doenças Musculares , Poli-Hidrâmnios , Aminoácidos/metabolismo , Miosinas Cardíacas/genética , Miosinas Cardíacas/metabolismo , Feminino , Humanos , Músculo Esquelético/metabolismo , Doenças Musculares/genética , Mutação , Cadeias Pesadas de Miosina/genética , Cadeias Pesadas de Miosina/metabolismo , Poli-Hidrâmnios/metabolismo , Poli-Hidrâmnios/patologia , Estudos RetrospectivosAssuntos
Ruptura Prematura de Membranas Fetais/cirurgia , Transfusão Feto-Fetal/epidemiologia , Transfusão Feto-Fetal/cirurgia , Fetoscopia/mortalidade , Gravidez de Gêmeos , Âmnio/patologia , Líquido Amniótico , Feminino , Ruptura Prematura de Membranas Fetais/patologia , Transfusão Feto-Fetal/patologia , Fetoscopia/métodos , Idade Gestacional , Humanos , Incidência , Poli-Hidrâmnios/patologia , Poli-Hidrâmnios/cirurgia , Gravidez , Resultado da GravidezRESUMO
OBJECTIVE: To assess the experience on prenatal diagnosis of Miller-Dieker syndrome (MDS) to further delineate the fetal presentation of this syndrome. METHODS: This was a retrospective study. Fetal MDS was diagnosed prenatally by chromosomal microarray (CMA). Clinical data were reviewed for these cases, including maternal characteristics, indications for prenatal diagnosis, sonographic findings, CMA results, and pregnancy outcomes. RESULTS: Four cases were diagnosis as MDS by CMA. The most common sonographic features were ventriculomegaly (3/4) and polyhydramnios (2/4). Deletion sizes ranged from 1.5 to 5.4 Mb. All microdeletions were located at the MDS critical region and showed haploinsufficiency of the YWHAE, CRK, and PAFAH1B1. All patients chose to terminate the pregnancy. Parental chromosome analysis were preformed in three cases and demonstrated that two cases were de novo and one case was caused by inherited derivative chromosomes from parental balanced translocations. CONCLUSION: The most common prenatal ultrasound findings of MDS were ventriculomegaly and polyhydramnios. CMA can improve diagnostic precision for detecting MDS.
Assuntos
1-Alquil-2-acetilglicerofosfocolina Esterase/genética , Proteínas 14-3-3/genética , Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/diagnóstico , Proteínas Associadas aos Microtúbulos/genética , Diagnóstico Pré-Natal , Proteínas Proto-Oncogênicas c-crk/genética , Adulto , Cromossomos/genética , Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/diagnóstico por imagem , Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/genética , Lissencefalias Clássicas e Heterotopias Subcorticais em Banda/patologia , Feminino , Haploinsuficiência/genética , Humanos , Hidrocefalia/diagnóstico , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/genética , Hidrocefalia/patologia , Análise em Microsséries , Poli-Hidrâmnios/diagnóstico , Poli-Hidrâmnios/diagnóstico por imagem , Poli-Hidrâmnios/genética , Poli-Hidrâmnios/patologia , Gravidez , Ultrassonografia , Adulto JovemRESUMO
The etiology of nonimmune hydrops fetalis is extensive and includes genetic disorders. We describe a term-born female neonate with late onset extensive nonimmune hydrops, that is, polyhydramnios, edema, and congenital bilateral chylothorax. This newborn was successfully treated with repetitive thoracocentesis, total parenteral feeding, octreotide intravenously and finally surgical pleurodesis and corticosteroids. A genetic cause seemed plausible as the maternal history revealed a fatal nonimmune hydrops fetalis. A homozygous truncating variant in GDF2 (c.451C>T, p.(Arg151*)) was detected with exome sequencing. Genetic analysis of tissue obtained from the deceased fetal sibling revealed the same homozygous variant. The parents and two healthy siblings were heterozygous for the GDF2 variant. Skin and lung biopsies in the index patient, as well as the revised lung biopsy of the deceased fetal sibling, showed lymphatic dysplasia and lymphangiectasia. To the best of our knowledge, this is the first report of an association between a homozygous variant in GDF2 with lymphatic dysplasia, hydrothorax and nonimmune hydrops fetalis.
Assuntos
Anormalidades Craniofaciais/genética , Fator 2 de Diferenciação de Crescimento/genética , Hidropisia Fetal/genética , Linfangiectasia Intestinal/genética , Linfedema/genética , Poli-Hidrâmnios/genética , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/patologia , Feminino , Homozigoto , Humanos , Hidropisia Fetal/diagnóstico , Hidropisia Fetal/patologia , Recém-Nascido , Linfangiectasia Intestinal/diagnóstico , Linfangiectasia Intestinal/patologia , Linfedema/diagnóstico , Linfedema/patologia , Poli-Hidrâmnios/diagnóstico , Poli-Hidrâmnios/patologia , Gravidez , Toracentese , Ultrassonografia Pré-Natal , Sequenciamento do ExomaRESUMO
INTRODUCTION: Hydrallantois is the excessive accumulation of fluid in the allantoic cavities during the last trimester of pregnancy, leading to abdominal wall hernias, cardiovascular shock, abortion, and dystocia. It has been postulated that hydrallantois is associated with structural and/or functional changes in the chorioallantoic membrane. In the present study, we hypothesized that angiogenesis is impaired in the hydrallantoic placenta. METHOD: Capillary density in the hydrallantoic placenta was evaluated in the chorioallantois via immunohistochemistry for Von Willebrand Factor. Moreover, the expression of angiogenic genes was compared between equine hydrallantois and age-matched, normal placentas. RESULTS: In the hydrallantoic samples, edema was the main pathological finding. The capillary density was significantly lower in the hydrallantoic samples than in normal placentas. The reduction in the number of vessels was associated with abnormal expression of a subset of angiogenic and hypoxia-associated genes including VEGF, VEGFR1, VEGFR2, ANGPT1, eNOS and HIF1A. We believe that the capillary density and the abnormal expression of angiogenic genes leads to tissue hypoxia (high expression of HIF1A) and edema. Finally, we identified a lower expression of genes associated with steroidogenic enzyme (CYP19A1) and estrogen receptor signaling (ESR2) in the hydrallantoic placenta. DISCUSSION: Based on the presented data, we believe that formation of edema is due to disrupted vascular development (low number of capillaries) and hypoxia in the hydrallantoic placenta. The edema leads to further hypoxia and consequently, causes an increase in vessel permeability which leads to a gradual increase in interstitial fluid accumulation, resulting in an insufficient transplacental exchange rate and accumulation of fluid in the allantoic cavity.
Assuntos
Doenças dos Cavalos , Neovascularização Patológica/patologia , Doenças Placentárias , Placenta/irrigação sanguínea , Poli-Hidrâmnios/patologia , Prenhez , Alantoide/metabolismo , Alantoide/patologia , Animais , Feminino , Doenças dos Cavalos/genética , Doenças dos Cavalos/patologia , Doenças dos Cavalos/fisiopatologia , Cavalos , Densidade Microvascular , Neovascularização Patológica/genética , Neovascularização Patológica/fisiopatologia , Placenta/metabolismo , Placenta/patologia , Placenta/fisiopatologia , Doenças Placentárias/genética , Doenças Placentárias/patologia , Doenças Placentárias/fisiopatologia , Doenças Placentárias/veterinária , Poli-Hidrâmnios/etiologia , Poli-Hidrâmnios/fisiopatologia , Poli-Hidrâmnios/veterinária , Gravidez , Fator A de Crescimento do Endotélio Vascular/genética , Fator A de Crescimento do Endotélio Vascular/metabolismo , Receptor 1 de Fatores de Crescimento do Endotélio Vascular/genética , Receptor 1 de Fatores de Crescimento do Endotélio Vascular/metabolismo , Receptor 2 de Fatores de Crescimento do Endotélio Vascular/genética , Receptor 2 de Fatores de Crescimento do Endotélio Vascular/metabolismoRESUMO
Kabuki syndrome (KS) is a disorder of epigenetic dysregulation due to heterozygous mutations in KMT2D or KDM6A, genes encoding a lysine-specific methyltransferase or demethylase, respectively. The phenotype is highly variable, including congenital cardiac and renal anomalies, developmental delay, hypotonia, failure to thrive, short stature, and immune dysfunction. All affected individuals have characteristic facial features. As KS natural history has not been fully delineated, limited information exists on its prenatal and perinatal history. Two tertiary centers collected retrospective data from individuals with KS (N = 49) using a questionnaire followed by review of medical records. Data from 49 individuals (age range: 7 months-33 years; 37% male; 36 with KMT2D mutations, 2 with KDM6A mutations, and 11 diagnosed clinically) were examined. Polyhydramnios affected 16 of 39 (41%) pregnancies. Abnormal quad screens in four out of nine (44%) pregnancies and reduced placental weights also complicated KS pregnancies. These data comprise the first large dataset on prenatal and perinatal history in individuals with confirmed (genetically or clinically) KS. Over a third of pregnancies were complicated by polyhydramnios, possibly secondary to abnormal craniofacial structures and functional impairment of swallowing. The differential diagnosis for polyhydramnios in the absence of intrauterine growth retardation should include KS.
Assuntos
Anormalidades Múltiplas/diagnóstico , Proteínas de Ligação a DNA/genética , Face/anormalidades , Retardo do Crescimento Fetal/diagnóstico , Doenças Hematológicas/diagnóstico , Histona Desmetilases/genética , Proteínas de Neoplasias/genética , Poli-Hidrâmnios/diagnóstico , Doenças Vestibulares/diagnóstico , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Adolescente , Adulto , Criança , Pré-Escolar , Diagnóstico Diferencial , Face/patologia , Feminino , Retardo do Crescimento Fetal/genética , Retardo do Crescimento Fetal/patologia , Doenças Hematológicas/genética , Doenças Hematológicas/patologia , Humanos , Lactente , Masculino , Mutação , Fenótipo , Poli-Hidrâmnios/genética , Poli-Hidrâmnios/patologia , Gravidez , Doenças Vestibulares/genética , Doenças Vestibulares/patologia , Adulto JovemRESUMO
Chorangiomas of the placenta, benign tumors of chorionic tissue, are a rare placental cause of adverse fetal and maternal outcomes. We describe the case of a large placental chorangioma leading to polyhydramnios as well as consecutive preterm birth and high output cardiac failure of the newborn. Derived from a literature review, we suggest instructions for diagnosis and optimal prenatal care in case of a a suspected placental chorangioma.
Assuntos
Insuficiência Cardíaca/patologia , Hemangioma/patologia , Doenças Placentárias/patologia , Placenta/patologia , Poli-Hidrâmnios/patologia , Complicações Neoplásicas na Gravidez/patologia , Feminino , Humanos , Recém-Nascido , Gravidez , Resultado da Gravidez , Cuidado Pré-NatalAssuntos
Transfusão Feto-Fetal/patologia , Fígado/patologia , Poli-Hidrâmnios/patologia , Complicações Hematológicas na Gravidez/patologia , Ultrassonografia Pré-Natal , Adulto , Feminino , Transfusão Feto-Fetal/diagnóstico por imagem , Transfusão Feto-Fetal/cirurgia , Humanos , Recém-Nascido , Terapia a Laser , Fígado/diagnóstico por imagem , Fígado/embriologia , Masculino , Poli-Hidrâmnios/diagnóstico por imagem , Gravidez , GêmeosRESUMO
Twin anemia-polycythemia sequence (TAPS) complicates up to 6% of monochorionic diamniotic twin pregnancies, typically in the late second or third trimester. The presence of only a few and very small arteriovenous vascular anastomoses characterizes the underlying angioarchitecture at the chorionic plate in cases of TAPS. In monoamniotic twins, large vascular anastomoses can usually be seen at the placental vascular equator, and therefore one would not expect the development of TAPS in monoamniotic twins. We report a case of TAPS in a monoamniotic pregnancy at 26 + 5 weeks' gestation which responded favorably to fetoscopic laser coagulation of the small placental anastomoses, resolving severe anemia in one twin and polycythemia in the other. The pregnancy continued until 32 + 5 weeks, when worsening cord entanglement with increased resistance and the development of postsystolic notches in the umbilical artery of one twin prompted delivery by Cesarean section. There was only a moderate difference in neonatal hemoglobin concentrations, with the former polycythemic twin needing a single partial volume exchange transfusion. The postnatal course of the neonates was uneventful, according to their gestational age at birth. To our knowledge this is the first case report describing successful laser therapy for TAPS in monoamniotic twins.
Assuntos
Anemia/patologia , Fetoscopia/métodos , Fotocoagulação a Laser/métodos , Placenta/patologia , Policitemia/patologia , Poli-Hidrâmnios/patologia , Adulto , Anemia/embriologia , Cesárea , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Placenta/irrigação sanguínea , Policitemia/diagnóstico por imagem , Policitemia/embriologia , Gravidez , Resultado da Gravidez , Gravidez de Gêmeos , Gêmeos Monozigóticos , UltrassonografiaRESUMO
Germ cell tumors (GCTs) may occur in both children and adults and include a broad array of histologic subtypes, such as teratoma, seminoma (known as dysgerminoma in the ovary and germinoma in the pineal gland), choriocarcinoma, yolk sac tumor, embryonal cell carcinoma, and mixed GCT. In adults, GCTs occur most commonly in the gonads. In children, sacrococcygeal tumors predominate. Teratomas are a common form of GCT. They are defined histologically as containing tissues derived from all 3 germ cell layers: ectoderm, mesoderm (most teratomas contain fat, an imaging hallmark, which is a mesodermal derivative), and endoderm. Teratomas are also classified as mature or immature, depending on the degree of differentiation of its components, and in adults, immature tumors are more likely to exhibit malignant behavior.
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Neoplasias Encefálicas/patologia , Neoplasias das Glândulas Endócrinas/patologia , Neoplasias de Cabeça e Pescoço/patologia , Neoplasias do Mediastino/patologia , Neoplasias Retroperitoneais/patologia , Teratoma/patologia , Adolescente , Adulto , Distribuição por Idade , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/embriologia , Calcinose/patologia , Criança , Pré-Escolar , Neoplasias das Glândulas Endócrinas/diagnóstico por imagem , Neoplasias das Glândulas Endócrinas/embriologia , Feminino , Neoplasias de Cabeça e Pescoço/diagnóstico por imagem , Neoplasias de Cabeça e Pescoço/embriologia , Humanos , Lactente , Recém-Nascido , Masculino , Neoplasias do Mediastino/diagnóstico por imagem , Poli-Hidrâmnios/patologia , Gravidez , Radiografia , Neoplasias Retroperitoneais/diagnóstico por imagem , Região Sacrococcígea/patologia , Teratoma/diagnóstico por imagem , Teratoma/embriologia , Adulto JovemRESUMO
Perlman syndrome is a rare syndrome characterized by polyhydramnios, fetal overgrowth, facial dysmorphism, visceromegaly, nephroblastomatosis and predisposition to Wilms tumor. Here we report on a newborn with a prenatal history of polyhydramnios who presented with nephromegaly, hypotonia, macrosomia, facial dysmorphism, cholestasis and characteristic ultrasonographic and computed tomographic appearances of renal abnormalities that are observed with Perlman syndrome. Perlman syndrome is a rare entity with a high neonatal mortality rate. This is the first case in which cholestasis has been observed. Close follow-up should be carried out for early detection of Wilms tumor.
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Colestase/patologia , Anormalidades Múltiplas/patologia , Adulto , Feminino , Macrossomia Fetal/patologia , Humanos , Recém-Nascido , Rim/anormalidades , Rim/patologia , Neoplasias Renais , Poli-Hidrâmnios/patologia , Gravidez , Tumor de Wilms/diagnóstico , Tumor de Wilms/patologiaRESUMO
Chorangioma has been referred to as a hamartoma-like, or a hyperplastic capillary lesion, rather than a true neoplasm. Its incidence is 1 in 100 placentas. In chorangiomas larger than 4 cm, there can be significant effects on the hemodynamic and circulatory processes of the fetus, leading to grave clinical consequences, such as polyhydramnios and fetal heart failure. Chorangiomas can show various histopathologic pictures, ranging from vascular to cellular, and can undergo degenerative changes. They can be diagnosed prenatally by ultrasound, color Doppler imaging, and magnetic resonance imaging (MRI). Chorangioma must be differentiated from other villous capillary lesions, namely, chorangiomatosis and chorangiosis. They have overlapping similarities with chorangioma, and have clinical implications. Chorangiomatosis has been associated with negative fetal outcomes such as intrauterine growth retardation (IUGR) and preeclampsia. Chorangiosis is associated with maternal diabetes mellitus. Another rarer differential is chorangioma with trophoblast proliferation ("chorangiocarcinoma," a probable misnomer), a rare proliferation of trophoblastic tissue seen in the vicinity of otherwise benign chorangioma. Treatment modalities of chorangioma include endoscopic devascularization, alcoholic ablation, and interstitial laser coagulation. In this article, we will review the clinical and pathologic picture of chorangioma as well as treatment, and discuss its main differentials.
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Hemangioma/patologia , Doenças Placentárias/patologia , Placenta/patologia , Adulto , Feminino , Hemangioma/complicações , Hemangioma/cirurgia , Humanos , Placenta/irrigação sanguínea , Doenças Placentárias/cirurgia , Poli-Hidrâmnios/patologia , Poli-Hidrâmnios/cirurgia , Gravidez , Diagnóstico Pré-NatalRESUMO
BACKGROUND: The homozygous deletion of Pkd1 in the mouse results in embryonic lethality with renal cysts and hydrops fetalis, but there is no precise data on the segmental origin of cysts and potential changes associated with polyhydramnios. METHODS: We used Pkd1-null mice to investigate cystogenesis and analyze the amniotic fluid composition from embryonic day 12.5 (E12.5) to birth (n = 257 embryos). RESULTS: Polyhydramnios was consistently observed from E13.5 in Pkd1(-/-) embryos, in absence of placental abnormalities but with a significantly higher excretion of sodium and glucose from E13.5 through E16.5, and increased cyclic adenosine 3'5-monophosphate (cAMP) levels at E14.5 and E15.5. The Pkd1(-/-) embryos started to die at E13.5, with lethality peaking at E15.5, corresponding to the onset of cystogenesis. The first cysts in Pkd1(-/-) kidneys emerged at E15.5 in mesenchyme-derived segments at the cortico-medullary junction, with a majority of glomerular cysts and fewer proximal tubule cysts (positive for megalin). The cysts extended to ureteric bud-derived collecting ducts (positive for Dolichos biflorus agglutinin lectin) from E16.5. CONCLUSIONS: These studies indicate that Pkd1 deletion is associated with a massive loss of solutes (from E13.5) and increased cAMP levels (E14.5) associated with polyhydramnios. These abnormalities precede renal cysts (E15.5), first derived from glomeruli and proximal tubules and later from the collecting ducts, reflecting the expression pattern of Pkd1 in maturing epithelial cells.
Assuntos
Deleção de Genes , Glomérulos Renais/patologia , Túbulos Renais Proximais/patologia , Doenças Renais Policísticas/etiologia , Canais de Cátion TRPP/genética , Animais , AMP Cíclico/metabolismo , Embrião de Mamíferos , Feminino , Homozigoto , Técnicas Imunoenzimáticas , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Placenta/metabolismo , Placenta/patologia , Doenças Renais Policísticas/metabolismo , Poli-Hidrâmnios/diagnóstico , Poli-Hidrâmnios/patologia , Gravidez , Taxa de Sobrevida , beta-Galactosidase/metabolismoRESUMO
Sacrococcygeal teratoma is the most common and benign fetal tumor. Fetuses with sacrococcygeal tumors that are predominantly solid and highly vascularized have a high risk of fatal issue. Hydrops and tumor hemorrhage are associated with a highest risk of fetal death. Management of these tumors includes ultrasound scan with Doppler and magnetic resonance imaging (MRI) is usually used for evaluation of its intrapelvic extension and relationship to the other structures. New in-utero treatments as vascular coagulation have been applied in fetuses with highly vascular teratomas but these techniques are still experimental and need more investigations. The management of delivery depends on associated anomalies, tumor vascularity and size.
Assuntos
Parto Obstétrico , Doenças Fetais/diagnóstico , Diagnóstico Pré-Natal , Região Sacrococcígea/patologia , Teratoma/embriologia , Deleção Cromossômica , Cromossomos Humanos Par 1 , Cromossomos Humanos Par 7 , Feminino , Humanos , Recém-Nascido , Cariotipagem , Imageamento por Ressonância Magnética , Poli-Hidrâmnios/patologia , Gravidez , Teratoma/diagnóstico por imagem , Teratoma/genética , Teratoma/patologia , Trissomia , UltrassonografiaRESUMO
Craniofacial duplication (diprosopus) is a rare form of conjoined twins. A case of monocephalus diprosopus with anencephaly, cervicothoracolumbar rachischisis, and duplication of the respiratory tract and upper gastrointestinal tract is reported. The cardiovascular system remained single but the heart showed transposition of the great vessels. We present this case due to its rarity, and compare our pathologic findings with those already reported.
Assuntos
Anormalidades Múltiplas/patologia , Anormalidades Craniofaciais , Gêmeos Unidos/patologia , Adulto , Anencefalia/patologia , Anormalidades do Sistema Digestório , Face/anormalidades , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Masculino , Defeitos do Tubo Neural/patologia , Poli-Hidrâmnios/patologia , Gravidez , Anormalidades do Sistema Respiratório , Disrafismo Espinal/patologiaRESUMO
We report five new cases of rhabdomyosarcoma (RMS) in Costello syndrome. These cases, combined with those previously reported, increase the number of solid tumors to 17 (10 RMSs, 3 neuroblastomas, 2 bladder carcinomas, 1 vestibular schwannoma, 1 epithelioma), in at least 100 known Costello syndrome patients. Despite possible ascertainment bias, and the incomplete identification of all Costello syndrome patients, the tumor frequency could be as high as 17%. This is comparable to the 7-21% frequency of solid tumors in Beckwith-Wiedemann syndrome (BWS), and may justify tumor screening. Based on the recommendations for screening BWS patients, we propose a screening protocol consisting of ultrasound examination of the abdomen and pelvis every 3-6 months until age 8-10 years for RMS and abdominal neuroblastoma; urine catecholamine metabolite analysis every 6-12 months until age 5 years for neuroblastoma; and urinalysis for hematuria annually for bladder carcinoma after age 10 years. These recommendations may need to be modified, as new information becomes available. Potential criticism of the tumor screening protocol concerns the lack of evidence for improved outcome, and possible overestimation of the tumor risk. The ability of RMSs to occur at various sites complicates tumor screening, but 8 of the 10 RMSs in Costello syndrome patients originated from the abdomen, pelvis and urogenital area. Prior diagnosis of Costello syndrome is a prerequisite for the implementation of any screening protocol. The diagnosis of Costello syndrome should also be considered in individuals with RMS and physical findings suggestive of Costello syndrome.
Assuntos
Anormalidades Múltiplas , Rabdomiossarcoma , Anormalidades Múltiplas/diagnóstico por imagem , Adolescente , Adulto , Criança , Pré-Escolar , Protocolos Clínicos , Insuficiência de Crescimento/genética , Insuficiência de Crescimento/patologia , Feminino , Humanos , Lactente , Neoplasias Intestinais/diagnóstico , Neoplasias Intestinais/genética , Instabilidade Articular/genética , Instabilidade Articular/patologia , Masculino , Programas de Rastreamento , Poli-Hidrâmnios/patologia , Gravidez , Rabdomiossarcoma/diagnóstico , Rabdomiossarcoma/diagnóstico por imagem , Rabdomiossarcoma/genética , Rabdomiossarcoma/patologia , Síndrome , UltrassonografiaRESUMO
Bartter syndrome, which presents clinically with polyuria, urinary potassium loss, hypokalemia, hypercalciuria, and alkalosis, is an autosomal recessive disorder with mutations in genes encoding the Na-K-2Cl cotransporter, the chloride channel CLC-NKB, and the potassium channel ROMK. Prenatal diagnosis of Bartter syndrome is now possible; however, there are no reports of the placental pathology associated with fetal Bartter syndrome. We present the placental pathologic findings in two siblings with fetal Bartter syndrome. Both pregnancies were complicated by polyhydramnios and preterm delivery. The first pregnancy delivered at 30 weeks, and Bartter syndrome was diagnosed in the perinatal period. The subsequent pregnancy required periodic therapeutic amniocentesis secondary to massive polyhydramnios and delivered at 32 weeks gestation. The suspicion of fetal Bartter syndrome was very high in this second pregnancy, and the infant was confirmed to have Bartter syndrome subsequently. Both placentas were large for gestational age, weighing greater than the 95th percentile. Microscopic examination showed extensive subtrophoblastic basement membrane mineralization (special stains positive for iron and calcium) in the chorionic villi. This striking finding was present in both placentas. Subtrophoblastic mineralization has been described in the literature in placentas of fetuses with abnormalities including anencephaly, trisomy 21, and other congenital abnormalities; however, it has also been described in normal pregnancies. Mechanisms of calcification in the placenta are not well understood, but these striking cases suggest that defects in fetal renal excretion of ions can lead to dystrophic calcification within the placenta, particularly in a subtrophoblastic pattern.
Assuntos
Síndrome de Bartter/patologia , Doenças Placentárias/patologia , Placenta/patologia , Adulto , Amniocentese , Síndrome de Bartter/complicações , Síndrome de Bartter/genética , Membrana Basal/química , Membrana Basal/patologia , Calcinose/patologia , Cálcio/análise , Feminino , Homozigoto , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Ferro/análise , Mutação , Doenças Placentárias/complicações , Poli-Hidrâmnios/etiologia , Poli-Hidrâmnios/patologia , GravidezRESUMO
Conocer la incidencia del polihidramnios por ultrasonido y su repercusión perinatal. Se realizó un estudio descriptivo en 4.155 pacientes durante 1988-1998 diagnosticándose 161 casos. Se empleó el índice del líquido amniótico para diagnóstico. Servicio de Perinatología, Hospital "Dr. Adolfo Prince Lara", Puerto Cabello, Estado Carabobo, Venezuela. La incidencia fue de 3,87 por ciento. Las principales patologías relacionadas fueron: la diabetes 48 por ciento (48 casos), macrosonomía fetal 25 por ciento (25 casos), incompatibilidad Rh-9 por ciento (9 casos), malformación fetal 6 por ciento (6 casos). Se atendieron en el hospital 86 pacientes, 67,44 por ciento fueron cesáreas (58 casos) y parto vaginal 32,56 por ciento (28 pacientes). Hubo tratamiento médico en 22,09 por ciento (19 casos), amniocentesis descompresiva 1,16 por ciento (1 caso). La principal morbilidad materna fue el parto pretérmino 10,47 por ciento (9 pacientes) y rotura prematura de membranas 3,49 por ciento (3 pacientes). La morbilidad perinatal global 70, 93 por ciento (61 casos) dado por la macrosomía neonatal 27,91 por ciento (24 recien nacidos), prematurez 10,47 por ciento (9 casos) y malformaciones 8,14 por ciento (7 casos); con una mortalidad perinatal de 17,44 por ciento (15 casos), fetal 5,81 por ciento (5 casos) y neonatal 11,63 por ciento (10 casos). La identificación ecográfica de polihidramnios nos obliga a una exhaustiva pesquisa de las patologías relacionadas para abatir la elevada morbi mortalidad perinatal