A hidropsia fetal não imune (HFNI), um tipo de hidropsia fetal, é uma condição grave para o feto, caracterizada pelo acúmulo excessivo de líquido nos tecidos e cavidades do corpo do bebê, e que representa o estágio avançado de diversas doenças ou condições.
Introdução
O que você precisa saber de cara
A hidropsia fetal não imune (HFNI), um tipo de hidropsia fetal, é uma condição grave para o feto, caracterizada pelo acúmulo excessivo de líquido nos tecidos e cavidades do corpo do bebê, e que representa o estágio avançado de diversas doenças ou condições.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 6 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 14 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
5 genes identificados com associação a esta condição. Padrão de herança: Not applicable.
G protein-coupled receptor which specificity is determined by its interaction with receptor-activity-modifying proteins (RAMPs) (PubMed:32296767, PubMed:33602864, PubMed:8626685). Together with RAMP1, form the receptor complex for calcitonin-gene-related peptides CALCA/CGRP1 and CALCB/CGRP2 (PubMed:33602864). Together with RAMP2 or RAMP3, function as receptor complexes for adrenomedullin (ADM and ADM2) (PubMed:32296767, PubMed:9620797). Ligand binding causes a conformation change that triggers s
Cell membrane
Lymphatic malformation 8
A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Adult patients with lymphedema may suffer from recurrent local infections. Impaired lymphatic drainage in the fetus can develop into hydrops fetalis, a severe condition characterized by excessive fluid accumulation in more than two fetal extra-vascular compartments and body cavities, placental enlargement and edema, pericardial or pleural effusion, or ascites. LMPHM8 is an autosomal recessive form characterized by onset in utero and fetal death due to non-immune hydrops fetalis.
Binds to TEK/TIE2, competing for the ANGPT1 binding site, and modulating ANGPT1 signaling (PubMed:15284220, PubMed:19116766, PubMed:19223473, PubMed:9204896). Can induce tyrosine phosphorylation of TEK/TIE2 in the absence of ANGPT1 (PubMed:15284220, PubMed:19116766, PubMed:19223473, PubMed:9204896). In the absence of angiogenic inducers, such as VEGF, ANGPT2-mediated loosening of cell-matrix contacts may induce endothelial cell apoptosis with consequent vascular regression. In concert with VEGF,
Secreted
Lymphatic malformation 10
A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM10 is an autosomal dominant form characterized by the onset of swelling in the lower extremities within the first year of life. Lymphedema may also occur in the neck, upper extremities, and scrotum or labia majora. Gradual resorption generally occurs, although some patients may experience progression complicated by cellulitis. Incomplete penetrance has been observed in some families.
Is a positive regulator of nascent focal adhesion assembly, involved in the modulation of endothelial cell attachment to the extracellular matrix
Endosome membraneCell junction, focal adhesionMembraneSecreted
Lymphatic malformation 13
A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM13 is an autosomal recessive form characterized by fetal onset of pleural and peritoneal effusions and the presence of moderate to severe non-immune hydrops fetalis that often resolves with age. Affected individuals show relatively normal growth and development, apart from mild ascites and hemangiomas. Most patients have congenital cardiac defects.
Involved in oxygen transport from the lung to the various peripheral tissues Hemopressin acts as an antagonist peptide of the cannabinoid receptor CNR1 (PubMed:18077343). Hemopressin-binding efficiently blocks cannabinoid receptor CNR1 and subsequent signaling (PubMed:18077343)
Heinz body anemias
Form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency.
Involved in oxygen transport from the lung to the various peripheral tissues Hemopressin acts as an antagonist peptide of the cannabinoid receptor CNR1 (PubMed:18077343). Hemopressin-binding efficiently blocks cannabinoid receptor CNR1 and subsequent signaling (PubMed:18077343)
Heinz body anemias
Form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency.
Variantes genéticas (ClinVar)
420 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 63 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
12 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Hidropsia fetal não-imune
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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Outros ensaios clínicos
5 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Progressive non-immune hydrops fetalis associated with RASA1 mutation: prenatal imaging and genomic insights.
Hydrops fetalis (HF) is the pathological accumulation of fluid in two or more fetal compartments. While immune-mediated HF was historically predominant, non-immune hydrops fetalis (NIHF) is now increasingly common. Advances in genetic testing have revealed monogenic causes, including RASopathies (a group of genetic syndromes caused by dysregulation of the RAS-mitogen-activated protein kinase signalling pathway). We report a young primigravida, referred at 20+3 weeks for unilateral fetal pleural effusion. Serial ultrasound scans showed rapid progression to bilateral effusion, hepatomegaly, polyhydramnios and NIHF. First-trimester screening and non-invasive prenatal testing were low-risk, Toxoplasmosis, Other agents, Rubella, Cytomegalovirus, Herpes simplex serologies and PCR ruled out infection. Whole exome sequencing identified a likely pathogenic heterozygous frameshift mutation in the RASA1 gene (c.723dupT; p.Gly242TrpfsTer23), associated with capillary malformation-arteriovenous malformation type 1 (CM-AVM1). The mother had a subtle congenital capillary haemangioma on her left hand and revealed the same heterozygous variant of RASA1 gene, indicating variable expressibility. This case highlights the importance of considering rare monogenic causes like RASA1-related CM-AVM1 in NIHF, especially when early findings precede florid hydrops and classical RASopathy features are absent.
Antenatal Diagnosis and Management of Congenital Pulmonary Airway Malformation: A Case Report.
Congenital pulmonary airway malformation (CPAM) is a rare developmental lung anomaly that can be identified on prenatal ultrasonography. We report a case of antenatally diagnosed CPAM with a progressively increasing CPAM volume ratio (CVR) on serial foetal imaging. Antenatal corticosteroids were administered, and a male neonate was delivered by elective lower-segment caesarean section at 33 weeks of gestation. Postnatal imaging confirmed CPAM involving the right middle lobe. The infant underwent right middle lobectomy on postnatal day nine with an uneventful postoperative course. This case highlights the importance of serial CVR monitoring, antenatal planning, and timely surgical management in achieving favourable outcomes in high-risk CPAM.
Recurrent Male Hydrops Fetalis Reveals Hidden Incontinentia Pigmenti: Lessons From Pseudogene-Interfered Genomic Diagnosis.
To report incontinentia pigmenti (IP) as an overlooked genetic etiology in three families with recurrent non-immune hydrops fetalis (NIHF), and to highlight the necessity of phenotype-driven targeted prenatal testing and multidisciplinary care in the next-generation sequencing (NGS) era. Three unrelated families with recurrent male NIHF and negative chromosomal microarray analysis/NGS results were investigated. Genetic counselors conducted detailed maternal history-taking and physical examinations to identify subtle ectodermal features suggestive of IP. Targeted long-range PCR and multiplex ligation-dependent probe amplification (MLPA) were employed to bypass interference from the pseudogene IKBKGP1 and detect IKBKG exon 4-10 deletions. All three mothers displayed subtle ectodermal features, including hypopigmented streaks, patchy alopecia, and dental anomalies. Genetic testing revealed heterozygous IKBKG exon 4-10 deletions in all 3 mothers, and a hemizygous deletion in the third affected male fetus of Family 3-both missed by conventional short-read NGS. Prenatal ultrasound consistently demonstrated increased nuchal translucency, cervical cystic hygroma, and generalized edema, serving as early indicators of IP-related NIHF. Pseudogene-aware molecular tools combined with maternal phenotyping are essential for uncovering hidden IP and reducing unexplained fetal loss in the NGS era.
Neonatal management of parvovirus B19-induced hydrops fetalis: a case report.
Hydrops fetalis (HF) is a severe fetal condition, and congenital Parvovirus B19 (B19V) infection is a leading cause of the non-immune form (NIHF). The recent European B19V outbreak has had a substantial impact on obstetric and neonatal outcomes, leading to an increase in fetal anemia, NIHF, spontaneous abortions, and intrauterine demise. While prenatal diagnosis and intrauterine interventions are well established, postnatal management of B19V-related NIHF remains challenging and outcomes are often poor. We report a preterm newborn with B19V-associated NIHF following intrauterine transfusions for severe fetal anemia. At birth, the neonate had generalized edema, ascites, and respiratory compromise. Despite aggressive medical management, the patient developed persistent, refractory edema. Given the failure of conservative therapy, peritoneal dialysis (PD) was initiated as a rescue strategy. PD allowed gradual interstitial fluid removal, microcirculatory recovery, and functional "renal rest" after prolonged pharmacologic stress. The neonate progressively improved, with resolution of edema, normalization of renal function, and successful respiratory weaning. At 12 months of corrected age (CA), neurodevelopmental milestones were appropriate, although ongoing long-term surveillance is warranted. This case contributes to the limited evidence on postnatal management of B19V-related NIHF. PD may be considered in neonates with persistent, refractory edema despite maximal conventional therapy, with careful individualization of treatment. Further research, including multicenter registries and controlled studies, is needed to define its role within standardized neonatal care protocols.
Dual pathology of parvovirus B19 infection and Aicardi-Goutières syndrome complicating non-immune hydrops fetalis.
Non-immune hydrops fetalis (NIHF) is a multifactorial condition characterised by abnormal fluid accumulation in fetal compartments. We report a complex case of NIHF in a primigravida in her 30s with dual pathology involving fetal parvovirus B19 infection and Aicardi-Goutières syndrome (AGS) due to a TREX1 gene mutation. The fetus exhibited severe anaemia, hydrops fetalis, ventriculomegaly and brain calcifications. Whole exome sequencing confirmed AGS as the genetic aetiology, while PCR on amniotic fluid identified parvovirus B19 as a coexisting infection. Although AGS alone has varied phenotype and prognosis but due to coexisting severe anaemia, the neonate succumbed postnatally. This report highlights the importance of integrating genetic and infectious workups in atypical NIHF cases.
Publicações recentes
Congenital scrub typhus presenting as non-immune hydrops fetalis.
[A novel homozygous variant in THSD1 causes non-immune hydrops fetalis in a premature infant].
Antenatal Diagnosis and Management of Congenital Pulmonary Airway Malformation: A Case Report.
Recurrent Male Hydrops Fetalis Reveals Hidden Incontinentia Pigmenti: Lessons From Pseudogene-Interfered Genomic Diagnosis.
Progressive non-immune hydrops fetalis associated with RASA1 mutation: prenatal imaging and genomic insights.
📚 EuropePMC157 artigos no totalmostrando 132
[A novel homozygous variant in THSD1 causes non-immune hydrops fetalis in a premature infant].
Andes pediatrica : revista Chilena de pediatriaAntenatal Diagnosis and Management of Congenital Pulmonary Airway Malformation: A Case Report.
CureusRecurrent Male Hydrops Fetalis Reveals Hidden Incontinentia Pigmenti: Lessons From Pseudogene-Interfered Genomic Diagnosis.
Prenatal diagnosisProgressive non-immune hydrops fetalis associated with RASA1 mutation: prenatal imaging and genomic insights.
BMJ case reportsNeonatal management of parvovirus B19-induced hydrops fetalis: a case report.
Frontiers in pediatricsLong-Segment Superior Vena Cava Hypoplasia as an Uncommon Cause of Non-immune Hydrops Fetalis.
Pediatric cardiologyAntenatal shunting and outcomes in fetuses with non-immune hydrops fetalis.
Journal of perinatal medicineMirror syndrome and placental ectopic liver in association with de novo SOS1 variant.
European journal of medical geneticsGenetic etiologies associated with non-immune hydrops fetalis delineated by whole exome sequencing: A pilot series and its implications in prenatal genetic counseling.
The journal of obstetrics and gynaecology researchNon-Immune Hydrops Fetalis in a Pregnant Woman with Chronic Alcohol Use: A Case Report.
International medical case reports journalDual pathology of parvovirus B19 infection and Aicardi-Goutières syndrome complicating non-immune hydrops fetalis.
BMJ case reportsNon-Immune Hydrops Fetalis, Multifocal Chorangiomatosis, and Noonan Syndrome 8.
Congenital anomaliesDual pathology of lower urinary tract obstruction and Brugada syndrome: A rare cause of non-immune hydrops fetalis.
European journal of obstetrics, gynecology, and reproductive biologyParvovirus B19 Infection in Pregnancy: Awareness of the Increased Incidence of Severe Intrauterine Infection.
Diagnostics (Basel, Switzerland)Evaluation of Non-Immune Fetal Hydrops in Resource Poor Country: Challenges Faced in Ascertaining the Etiology.
Prenatal diagnosisIndications for fetal echocardiography: consensus and controversies among evidence-based national and international guidelines.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyWhole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare.
Prenatal diagnosisFetal Hydrops: Genetic Dissection of an Unspecific Sonographic Finding-A Comprehensive Review.
Diagnostics (Basel, Switzerland)Mucopolysaccharidoses type VII (Sly syndrome): New uncertain pathogenic variants in GUSB gene.
Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de CitologiaParvovirus B19 infection in children: a comprehensive review of clinical manifestations and management.
Italian journal of pediatricsCase Report of Meconium Peritonitis: A Rare Cause of Non-immune Hydrops Fetalis.
CureusHuman parvovirus B19 vertical infection and hydrops fetalis. A case report.
Archivos argentinos de pediatriaNon-immune hydrops fetalis is associated with bi-allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene.
Clinical geneticsEtiology and perinatal outcomes between early and late-onset nonimmune hydrops fetalis.
Revista da Associacao Medica Brasileira (1992)Expansion of the prenatal phenotype of Baraitser-Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome.
American journal of medical genetics. Part ACongenital metastatic neuroblastoma with placental involvement as a rare cause of non-immune fetal hydrops.
The journal of obstetrics and gynaecology researchCongenital erythropoietic porphyria.
Liver international : official journal of the International Association for the Study of the LiverDisease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program.
Orphanet journal of rare diseasesSyndromic and single gene disorders associated with fetal pleural effusion (I): Noonan syndrome, RASopathy and congenital lymphatic anomalies.
Taiwanese journal of obstetrics & gynecologyChromosomal abnormalities associated with fetal pleural effusion (II): Specific and non-specific chromosome aberrations.
Taiwanese journal of obstetrics & gynecologyChromosomal abnormalities associated with fetal pleural effusion (I): General overview.
Taiwanese journal of obstetrics & gynecologyWhole exome sequencing of a novel homozygous missense variant in PALB2 gene leading to Fanconi anaemia complementation group.
Biomedical reportsClinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China.
European journal of medical geneticsPrognostic indicators for long-term outcome of non-immune hydrops fetalis.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyNovel premature termination codon in the FOXP3 gene as the cause of familial hydrops fetalis in males.
Prenatal diagnosisMucopolysaccharidosis type VII (Sly syndrome) - What do we know?
Molecular genetics and metabolismNon-immune hydrops fetalis due to infantile sialidosis.
Pediatrics and neonatologyA de novo homozygous missense mutation of the GUSB gene leads to mucopolysaccharidosis type VII identification in a family with twice adverse pregnancy outcomes due to non-immune hydrops fetalis.
Molecular genetics and metabolism reportsResolving fetal hydrops - A rare entity.
European journal of medical geneticsPrenatal diagnosis of mucopolysaccharidosis type VII facilitating treatment in neonatal period.
Prenatal diagnosisPIEZO1 is the most common monogenic etiology of non-immune hydrops fetalis detected by prenatal exome sequencing.
Prenatal diagnosisMaternal outcomes of a cohort of pregnancies affected by non-immune hydrops fetalis.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsOutcome and etiology of fetal pleural effusion, fetal ascites and hydrops fetalis after fetal intervention: retrospective observational cohort from a single institution.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyUnique prenatal manifestations of biallelic NDUFAF5 variants: expansion of phenotype.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyDual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non-immune hydrops fetalis in a twin pregnancy for a consanguineous couple.
Clinical case reportsFetal Inferior Vena Cava Thrombosis Associated With Non-Immune Hydrops Fetalis and Maternal Mirror Syndrome.
CureusNon-immune hydrops fetalis caused by Diamond-Blackfan anaemia and a mutation of the RPL15 gene.
Lancet (London, England)Growth patterns in patients with mucopolysaccharidosis VII.
Molecular genetics and metabolism reports[Free sialic acid storage disorders with fetal hydrops in a neonate].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsFetal Homozygous GM1 Gangliosidosis Presenting as Transient Non-immune Hydrops Fetalis.
The Israel Medical Association journal : IMAJGenetic disorders and pregnancy outcomes of non-immune hydrops fetalis in a tertiary referral center.
BMC medical genomicsThe Cardiovascular Profile Score in Patients with Non-immune Hydrops Fetalis and Cardiac Anomalies - a Pilot Study.
Reproductive sciences (Thousand Oaks, Calif.)Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome.
GenesDiagnostic yield from prenatal exome sequencing for non-immune hydrops fetalis: A systematic review and meta-analysis.
Clinical geneticsAn Investigation of the Etiologies of Non-Immune Hydrops Fetalis in the Era of Next-Generation Sequence-A Single Center Experience.
GenesRecurrent Non-Immune Hydrops Fetalis: A Diagnostic Dilemma-"What to tell the Prospective Parents".
Journal of obstetrics and gynaecology of IndiaPerinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.
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Access microbiologyA unique case of a newborn with a hemangioma on the omphalocele sac.
The Turkish journal of pediatricsA case of non-immune hydrops fetalis with maternal mirror syndrome diagnosed by trio-based exome sequencing: An autopsy case report and literature review.
Molecular genetics and metabolism reportsPrenatal diagnosis of non-immune hydrops fetalis: whole-exome sequencing or whole-genome sequencing?
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyA Gardos channelopathy associated with nonimmune hydrops and fetal loss.
Clinical geneticsCost-Effectiveness of Exome Sequencing versus Targeted Gene Panels for Prenatal Diagnosis of Fetal Effusions and Non-Immune Hydrops Fetalis.
American journal of obstetrics & gynecology MFMIsolated non-immune hydrops fetalis: an observational study on complete spontaneous resolution, perinatal outcome, and long-term follow-up.
Archives of gynecology and obstetricsPlacental phenotype in non-immune hydrops fetalis with negative standard workup.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyDiagnostic yield using whole-genome sequencing and in-silico panel of 281 genes associated with non-immune hydrops fetalis in clinical setting.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyNon-immune hydrops fetalis caused by PIEZO1 compound heterozygous deletions detected only by exome sequencing.
Prenatal diagnosisClinical Course and Outcome of Non-Immune Fetal Hydrops in Singleton Pregnancies.
Journal of clinical medicineNon-immune hydrops fetalis associated with two umbilical cord hemangiomas and vascular malformation of the transverse mesocolon. Case report.
Ceskoslovenska patologie[Whole exome sequencing analysis of compound heterozygous variants of CDAN1 gene in a Chinese family with non-immune hydrops fetalis].
Nan fang yi ke da xue xue bao = Journal of Southern Medical UniversityBiallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis.
Journal of medical geneticsAn Atypical Case of Congenital Erythropoietic Porphyria.
GenesFrequency and Prognosis of Hydrops Fetalis: A 10-Year Single-Center Experience.
Sisli Etfal Hastanesi tip bulteniClinical Profile and Predictors of Mortality in Neonates Born With Non-Immune Hydrops Fetalis: Experience From a Lower-Middle-Income Country.
Cureus[Analysis of three families with recurrence of non-immune hydrops fetalis by trio whole exome sequencing].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsEtiology and outcome of non-immune hydrops fetalis in relation to gestational age at diagnosis and intrauterine treatment.
Journal of perinatology : official journal of the California Perinatal AssociationNon-immune hydrops fetalis: Two case reports.
World journal of clinical casesExome sequencing vs targeted gene panels for the evaluation of nonimmune hydrops fetalis.
American journal of obstetrics and gynecologyMucopolysaccharidosis VII in Brazil: natural history and clinical findings.
Orphanet journal of rare diseasesValue of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis.
Frontiers in geneticsNon-immune hydrops fetalis secondary to congenital chylothorax with diffuse interstitial lung disease: a diagnostic conundrum.
BMJ case reportsFetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyNeonatal hereditary spherocytosis caused by a de novo frameshift mutation of the SPTB gene characterized by hydrops fetalis: A case report.
MedicineStaged Management of Congenital Chylothorax With Hydrops Fetalis: An Insight Into EXIT Related Procedures.
Frontiers in pediatricsMucopolysaccharidosis type VII as a cause of recurrent Non-Immune Hydrops Fetalis: The first Tunisian case confirmed by Next-Generation Sequencing.
Clinica chimica acta; international journal of clinical chemistryFetal bradyarrhythmia causing hydrops fetalis: A journey from fetal echo to autopsy.
Ultrasound (Leeds, England)Identification of a homozygous deletion of the NEU1 gene in a patient with type II sialidosis presenting isolated fetal ascites and central nervous system hypoplasia.
HippokratiaNon-immune hydrops fetalis was rare in Sweden during 1997-2015, but cases were associated with complications and poor prognosis.
Acta paediatrica (Oslo, Norway : 1992)Non-immune Hydrops Fetalis and Hepatic Dysfunction in a Preterm Infant With Congenital Syphilis.
Frontiers in pediatricsPathway to diagnosis and burden of illness in mucopolysaccharidosis type VII - a European caregiver survey.
Orphanet journal of rare diseasesInfantile onset Pompe disease presenting with non-immune hydrops fetalis.
Molecular genetics and metabolism reportsEtiology and Outcome of non-immune Hydrops Fetalis in Southern China: report of 1004 cases.
Scientific reportsDiamond-Blackfan anemia RPL35A: a case report.
Journal of medical case reportsA Neonatal Case With Perinatal Lethal Gaucher Disease Associated With Missense G234E and H413P Heterozygous Mutations.
Frontiers in pediatricsEarly fetal hydropic changes are associated with moderate dilatation of the brain ventricular system: A clue to a possible link between cervical lymphatic engorgement and ventricular dilatation?
LymphologyA system-based approach to the genetic etiologies of non-immune hydrops fetalis.
Prenatal diagnosisAuthor Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
Nature communicationsNon-immune hydrops fetalis neonate born to a mother with yellow nail syndrome.
Pediatrics international : official journal of the Japan Pediatric SocietyPlacental chorioangioma associated with polyhydramnios and hydrops fetalis.
BMJ case reportsCongenital erythropoietic porphyria: Recent advances.
Molecular genetics and metabolismA new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy.
Italian journal of pediatricsNo. 363-Investigation and Management of Non-immune Fetal Hydrops.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGCA recessive truncating variant in thrombospondin-1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family.
American journal of medical genetics. Part ACoexistence of Kasabach-Merritt Syndrome and placental chorioangioma in a premature infant.
Journal of neonatal-perinatal medicineN° 363 - Évaluation et prise en charge de l'anasarque fœtoplacentaire non immune.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGCGeneralized arterial calcification of infancy with a novel ENPP1 mutation: a case report.
BMC pediatricsInfection status of human parvovirus B19, cytomegalovirus and herpes simplex Virus-1/2 in women with first-trimester spontaneous abortions in Chongqing, China.
Virology journalThymic teratoma presenting as non-immune hydrops fetalis.
Autopsy & case reportsMetabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.
Clinica chimica acta; international journal of clinical chemistryLoss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.
Brain : a journal of neurology[Progress in genetic research on non-immune hydrops fetalis].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsA case of vasculopathy of unknown etiology associated with fatal hydrops fetalis and review of the literature on intimomedial mucoid degeneration.
Cardiovascular pathology : the official journal of the Society for Cardiovascular PathologyNon-immune hydrops fetalis: A retrospective analysis of 151 autopsies performed at a single center.
The Turkish journal of pediatricsNon-Immune Hydrops Fetalis: Do Placentomegaly and Polyhydramnios Matter?
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in MedicineInborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience.
Journal of perinatal medicinePerinatal mortality in Japanese women diagnosed with gestational diabetes mellitus and diabetes mellitus.
The journal of obstetrics and gynaecology researchLC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.
PloS oneDevelopment of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.
Rapid communications in mass spectrometry : RCMArchivée: Exploration et prise en charge de l'anasarque fœtoplacentaire non immune.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC[NEW APPROACH IN DIAGNOSTIC ALGORITHM OF AN INFECTIOUS AGENTS (PARVOVIRUS B19 AND CHLAMYDIA TRACHOMATIS) INVOLVED IN THE DEVELOPMENT OF PATHOLOGICAL PREGNANCY].
Akusherstvo i ginekologiiaA Rare Association of Non-Compaction of the Ventricular Myocardium, and Non-Immune Hydrops Fetalis.
The Journal of the Oklahoma State Medical AssociationPercutaneous umbilical blood sampling: current trends and outcomes.
European journal of obstetrics, gynecology, and reproductive biologyClinical course of sly syndrome (mucopolysaccharidosis type VII).
Journal of medical geneticsPerinatal and one-year outcomes of non-immune hydrops fetalis by etiology and age at diagnosis.
The journal of obstetrics and gynaecology researchCongenital Disorder of Glycosylation (CDG) Presenting as Non-immune Hydrops Fetalis.
Indian journal of pediatricsNovel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
Nature communicationsPerinatal-lethal Gaucher disease presenting as hydrops fetalis.
The Pan African medical journalRelation between parvovirus B19 infection and fetal mortality and spontaneous abortion.
Medical journal of the Islamic Republic of IranMaternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis.
American journal of medical genetics. Part AParvovirus B19 infection as a cause of acute myositis in an adult.
Revista brasileira de reumatologiaNon-immune Hydrops fetalis due to Parvovirus B19 Infection in 2 Extremely Preterm Infants: Perinatal Management and Long-term Neurodevelopmental Outcome.
Zeitschrift fur Geburtshilfe und NeonatologieEtiology of non-immune hydrops fetalis: An update.
American journal of medical genetics. Part AAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Progressive non-immune hydrops fetalis associated with RASA1 mutation: prenatal imaging and genomic insights.
- Antenatal Diagnosis and Management of Congenital Pulmonary Airway Malformation: A Case Report.
- Recurrent Male Hydrops Fetalis Reveals Hidden Incontinentia Pigmenti: Lessons From Pseudogene-Interfered Genomic Diagnosis.
- Neonatal management of parvovirus B19-induced hydrops fetalis: a case report.
- Dual pathology of parvovirus B19 infection and Aicardi-Goutières syndrome complicating non-immune hydrops fetalis.
- Congenital scrub typhus presenting as non-immune hydrops fetalis.
- [A novel homozygous variant in THSD1 causes non-immune hydrops fetalis in a premature infant].
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:363999(Orphanet)
- OMIM OMIM:236750(OMIM)
- MONDO:0009369(MONDO)
- GARD:17580(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55998620(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
