A hidropsia fetal é uma condição grave e complexa que afeta o feto, caracterizada pelo acúmulo excessivo de líquido nos seus tecidos e cavidades do corpo. Isso se manifesta como inchaço, líquido ao redor dos pulmões, líquido ao redor do coração e líquido na barriga. É a manifestação final de uma grande variedade de problemas de saúde. A causa pode ser imunológica (hidropsia fetal imune) ou não imunológica (hidropsia fetal não imune). A diferença entre as duas depende da presença ou ausência de anticorpos da mãe que atacam os glóbulos vermelhos do feto. Isso acontece, por exemplo, em casos de incompatibilidade ABO ou Rh (quando o tipo sanguíneo da mãe e do bebê não são compatíveis).
Introdução
O que você precisa saber de cara
A hidropsia fetal é uma condição grave e complexa que afeta o feto, caracterizada pelo acúmulo excessivo de líquido nos seus tecidos e cavidades do corpo. Isso se manifesta como inchaço, líquido ao redor dos pulmões, líquido ao redor do coração e líquido na barriga. É a manifestação final de uma grande variedade de problemas de saúde. A causa pode ser imunológica (hidropsia fetal imune) ou não imunológica (hidropsia fetal não imune). A diferença entre as duas depende da presença ou ausência de anticorpos da mãe que atacam os glóbulos vermelhos do feto. Isso acontece, por exemplo, em casos de incompatibilidade ABO ou Rh (quando o tipo sanguíneo da mãe e do bebê não são compatíveis).
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
+ 14 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 34 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.
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.
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.
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.
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.
Variantes genéticas (ClinVar)
287 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 89 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
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10 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 928
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.
Multi-omic analysis identifies a multi-step pathology in a case of multiple chorangioma syndrome in monochorionic twins.
Chorangiomas, benign capillary lesions of the placenta, occur in ~1% of births, typically as solitary nodules. Multiple chorangioma syndrome is rare and increases risk of fetal heart failure, hydrops fetalis, and intrauterine death due to placental hemodynamic disruption. While genetic and hypoxic factors have been suggested in chorangioma development, direct molecular evidence is lacking. Here, we present a unique case of multiple chorangiomas confined to half of a shared placenta in monozygotic monochorionic diamniotic twins, providing a rare opportunity to dissect molecular drivers of chorangioma formation. Formalin-fixed paraffin-embedded tissue samples from chorangioma, affected and unaffected villi, and decidua from MCDA twins were subjected to whole-genome and bulk RNA sequencing. Germline and somatic small, structural, and copy number variants were identified. Clonal evolution analysis was conducted using PyClone-VI and ClonEvol. Mutational signature profiling was performed with SigProfilerExtractor to characterize molecular drivers of pathology. RNA-Seq (100 M reads/sample) was processed using the nf-core RNA-Seq pipeline, with differential expression analysis via DESeq2 to identify transcriptomic changes and mutational signatures. Quality control and artifact filtering were applied to mitigate FFPE-induced sequencing errors. We identified a likely pathogenic early embryonic or germline EPAS1 frameshift deletion, suggesting impaired placental oxygen regulation and VEGF-driven angiogenesis. Chorangioma-affected tissue harbored pathogenic COL1A1, FBXO11, and TRIM71 somatic mutations, with elevated Leptin expression and oxidative stress signatures. In contrast, the unaffected twin’s placental territory carried a pathogenic MUTYH variant and repair deficiency-associated mutational signatures. These findings reveal distinct molecular processes in each placental domain and suggest a predisposing genetic alteration. Our study provides novel insights into the molecular basis of multiple chorangioma syndrome. To our knowledge, it is the first study to propose a molecular mechanism and the first to propose interaction of germline and somatic variants in syndrome pathobiology. Identification of molecular signatures linked to malignancy suggests potential overlap with oncogenic pathways that, if confirmed, would extend understanding of placental biology. These findings highlight the genetic-environmental interplay in placental pathology, with implications for preeclampsia, intrauterine growth restriction, and fetal vascular malperfusion. The online version contains supplementary material available at 10.1186/s13023-026-04228-2.
Prevalence of Severe Thalassemia and Performance of Prenatal Screening Tests Among Pregnant Women at Siriraj Thalassemia Center in Thailand.
Severe thalassemia remains a significant public health concern in Southeast Asia. Prenatal screening is an effective strategy for early detection and prevention. This study aimed to determine the prevalence of severe thalassemia and assess the performance of prenatal screening at the Siriraj Thalassemia Center, Siriraj Hospital, Thailand. A retrospective review was conducted using data from January 2018 to December 2023. A total of 18,976 pregnant women underwent initial screening with mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and hemoglobin (Hb) typing. Of these, 12,499 tested positive. Complete screening data from 6,698 male partners identified 18.3% of couples as high-risk. Deoxyribonucleic acid (DNA) analysis and prenatal diagnostic testing were performed for at-risk pregnancies. Among high-risk couples, 75.2% of fetuses were identified by DNA analysis as being at risk for severe thalassemia, and 34.2% were confirmed as affected. The distribution of severe thalassemia types included Hb Bart's Hydrops Fetalis (15.8%), homozygous β-thalassemia (1.6%), and β-thalassemia/Hb E disease (16.8%). The most frequent α-thalassemia genotype in Hb Bart's cases was homozygous α0-thalassemia (--SEA/--SEA; 96.3%). The most common β-thalassemia mutation was a 4-base pair deletion at codons 41/42 (-TTCT; 40.2%). DNA testing for α-thalassemia showed 100% specificity and positive predictive value (PPV). For β-thalassemia, the sensitivity, specificity, PPV, and negative predictive value (NPV) were 97.6%, 98.9%, 96.1%, and 99.3%, respectively. The findings underscore the effectiveness of prenatal screening and diagnosis in identifying severe thalassemia, highlighting their importance for informing prevention strategies and guiding public health planning in high-prevalence settings.
MEK Inhibition Improves Clinical Outcome in Premature Infants With Multisystemic RASA1 Disease.
Prenatal radiofrequency ablation for bronchopulmonary sequestration: a case report of successful fetal intervention and longitudinal outcomes.
Bronchopulmonary sequestration (BPS), a rare congenital pulmonary malformation, is characterized by nonfunctional pulmonary parenchyma with aberrant systemic arterial supply (typically from the aorta or its major branches) and absence of communication with the tracheobronchial tree. Large BPS lesions pose significant fetal risks, including hydrops fetalis, mediastinal shift, and polyhydramnios, necessitating timely prenatal intervention to prevent fetal demise. We present a case of successful ultrasound-guided radiofrequency ablation (RFA) of the feeding artery in a fetus diagnosed with BPS at 22 weeks of gestation. Under ultrasound guidance, a 17-gauge RFA needle was percutaneously inserted into the aberrant feeding artery, achieving complete vascular occlusion without procedural complications. Serial prenatal ultrasounds demonstrated progressive lesion involution. The pregnancy was complicated by cephalopelvic disproportion (CPD), prompting cesarean delivery at 38 weeks. Neonatal computed tomography (CT) confirmed shrinkage of the residual sequestration tissue. Six-month postnatal follow-up revealed normal respiratory function, age-appropriate growth, and developmental milestones. RFA represents a safe and effective minimally invasive prenatal therapy for BPS. Candidate selection requires comprehensive evaluation of fetal hydrops, lesion size, gestational age, and parental preferences. Amniotic fluid sampling during the procedure is advisable for genetic/ancillary testing. This case highlights the utility of RFA in optimizing fetal outcomes while avoiding open neonatal period surgery. Long-term neonatal follow-up supports the durability of vascular occlusion and functional recovery.
Publicações recentes
Congenital scrub typhus presenting as non-immune hydrops fetalis.
The Prevalence of Fetal Complete Heart Block and the Role of Positive Autoantibodies in Pregnant Women with Rheumatologic Diseases.
Maternal Isoimmunization-Associated Fetal Anemia After First-Trimester Abortion: A Case Report and Literature Review.
Identification of Human Transferrin Receptor as an Entry Co-receptor for Parvovirus B19 Infection of Human Erythroid Progenitor Cells.
Differential patterns of human parvovirus B19 seropositivity among diabetic and febrile children and adolescents: evidence from the Aseer region of Saudi Arabia.
📚 EuropePMC1.147 artigos no totalmostrando 199
Burden of Rhesus isoimmunization and pregnancy outcomes: a cross-sectional study conducted at Kenyatta National Hospital, Kenya.
The Pan African medical journalPrenatal radiofrequency ablation for bronchopulmonary sequestration: a case report of successful fetal intervention and longitudinal outcomes.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians[A novel homozygous variant in THSD1 causes non-immune hydrops fetalis in a premature infant].
Andes pediatrica : revista Chilena de pediatriaParvovirus B19 Infection in Pregnancy: Perinatal Outcomes Derived from a Systematic Review and Meta-Analysis.
American journal of obstetrics and gynecologyAntenatal 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 reportsA Case Report of a Syndromic Triad of Persistent Urogenital Sinus, Herlyn-Werner-Wunderlich Syndrome, and Prune Belly Syndrome in a Neonate.
European journal of pediatric surgery reportsHemoglobin Bart's disease and the Agrinio mutation: A case report of successful fetal intervention.
Fetal diagnosis and therapyThe Importance of a Multidisciplinary Team Approach in a Rare Case of Antenatally Diagnosed Tonne-Kalscheuer Syndrome.
CureusHereditary Anemias as a Monogenic Etiology for Nonimmune Hydrops Fetalis.
Clinical therapeuticsMulti-omic analysis identifies a multi-step pathology in a case of multiple chorangioma syndrome in monochorionic twins.
Orphanet journal of rare diseasesMany faces of non‑deletional α‑thalassaemia variants in neonate and early childhood.
Annals of hematologyPerinatal outcomes following in-utero transfusion for hydrops fetalis associated with parvovirus B19 infection.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyDiagnosis and management of primary fetal pleural effusion: A narrative review.
Best practice & research. Clinical obstetrics & gynaecologyPrevalence of Severe Thalassemia and Performance of Prenatal Screening Tests Among Pregnant Women at Siriraj Thalassemia Center in Thailand.
Clinical and translational scienceRepair of Severe Tricuspid Regurgitation in a Neonate With Intrauterine Tricuspid Valve Chordae Tendinae Rupture.
World journal for pediatric & congenital heart surgeryMEK Inhibition Improves Clinical Outcome in Premature Infants With Multisystemic RASA1 Disease.
Circulation. Genomic and precision medicineIntrauterine interventions for severe fetal anemia due to parvovirus B19 national outbreak.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansSuccessful perinatal management of a large placental chorio-angioma: a case report demonstrating the effectiveness of a public-private partnership model.
Paediatrics and international child healthA very rare cause of hydrops fetalis: idiopathic infantile arterial calcification.
Cardiology in the youngRadiofrequency ablation for giant congenital lung malformations complicated by fetal hydrops: a retrospective case series.
Archives of gynecology and obstetricsSirolimus for Recurrent Chylothorax and Edema in an Infant with Noonan Syndrome after Resolved Hydrops Fetalis: A Case Report.
AJP reportsPiezo1 gain of function induces a platelet preactivation state.
Journal of thrombosis and haemostasis : JTHPrenatal Diagnosis of MED11-Related Condition in a Family Presented With Recurrent Increased Nuchal Translucency and Hydrops Fetalis.
Prenatal diagnosisPhenotypic Divergence in Siblings with the Same Genotype: Diffuse Dermal Melanocytosis in Infantile-Onset Galactosialidosis.
Molecular syndromology[Dehydrated hereditary stomatocytosis in 23 cases: a single-center retrospective cohort study from Peking Union Medical College Hospital (2018-2024)].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhiGenetic etiology and pregnancy outcomes of abnormal fluid accumulation in fetus: A retrospective cohort study.
PloS onePrenatal Imaging of Micrognathia, Micromelia, and Fetal Hydrops Leading to the Diagnosis of Achondrogenesis Type II with a COL2A1 Missense Mutation.
International journal of molecular sciencesHydroxychloroquine After Complete Heart Block Diagnosis and Relationship to Patient Outcomes: A Descriptive Cohort Study.
Prenatal diagnosisCongenital Syphilis: A Threat to Neonatal Health.
Neonatal network : NNIsolated Transient Neonatal Ascites in a Preterm Infant Born to a Mother with Mirror Syndrome: A Case Report.
The American journal of case reportsRole of ultrasound in the prenatal diagnosis of sacrococcygeal teratoma: A case study.
Radiology case reportsCharacter and Frequency of Early Postnatal Resection in Prenatally Diagnosed Congenital Lung Malformations.
Fetal diagnosis and therapyTransient hydrops fetalis after interstitial laser coagulation and amnioreduction for treating placental chorioangioma.
BMC pregnancy and childbirthNeonatal management of parvovirus B19-induced hydrops fetalis: a case report.
Frontiers in pediatricsAre Dichorionic Twin Pregnancies Resulting from In Vitro Fertilization Different from Spontaneous Dichorionic Twin Pregnancies? A Retrospective Cohort Study.
Journal of clinical medicineRevisiting hemoglobin constant spring: molecular insights, pathophysiological mechanisms, and clinical perspectives.
Orphanet journal of rare diseasesPredicting the Double Heterozygotes of HbE and α-Thalassemia-1 (Southeast Asian Type) Using RapidMiner-Generated Hematologic Algorithm.
HemoglobinA Clinical Practice Guideline for the Management of Pregnancy Alloimmunized to Red Blood Cell Antigens.
JAMA network openA Zika Virus-Like Particle Vaccine Mitigates Early Pregnancy Loss In Rhesus Macaques.
bioRxiv : the preprint server for biologyPlacenta-derived extracellular vesicles in maternal plasma of Hb Bart's fetuses.
Scientific reportsTransient Congenital Nephrotic Syndrome in Neonates: Two Case Reports and Review of Recent Literature.
Cureus[Human Parvovirus B19 : from benign infections to rare systemic complication].
Revue medicale suisseSeroepidemiological Study of Parvovirus B19 Infection Among Pregnant Women Attending Ayatollah Rohani Hospital in Babol, Iran: A Cross-Sectional Study.
Health science reportsSuccessful management of parvovirus B19-associated maternal mirror syndrome: A case report and review of the literature.
Taiwanese journal of obstetrics & gynecologyInsights Into Congenital Lymphatic Anomalies Underlying Fetal Effusions.
Prenatal diagnosisIn Utero Diagnosis of Premature Closure of the Foramen Ovale: A Retrospective Case Series Analyzing Neonatal Interventions and Maternal Factors.
Pediatric cardiologyNeonatal anemia due to spontaneous fetomaternal hemorrhage in a term neonate: a case report of an incidental finding and brief review.
Frontiers in pediatricsPrevalence of double heterozygotes of HbE and α-thal 1 (SEA) type in pregnancies and their partners that received antenatal care at Chiangrai Prachanukroh Hospital and reevaluated the cut-offs for differentiation.
PloS oneNeonatal case of congenital dilated cardiomyopathy, cholestatic liver injury, and hyperferritinemia with FHL2 variant: a case report suggesting possible novel phenotypes.
Cardiology in the youngParvovirus: Conservative management of fetal anemia and hydrops.
Acta obstetricia et gynecologica ScandinavicaLong-Segment Superior Vena Cava Hypoplasia as an Uncommon Cause of Non-immune Hydrops Fetalis.
Pediatric cardiologyPrenatal sonographic predictors of maternal mirror syndrome in hydropic fetuses.
American journal of obstetrics & gynecology MFMAntepartum Thoracocentesis: A Case Report on Congenital Chylothorax.
CureusFetal Cardiac Collapse Diagnosed By Umbilical Venous Flow Volume After Thoraco-Amniotic Shunting for Severe Pleural Effusion.
AJP reportsPostmortem detection of trisomy 18 in a fetus with hydrops fetalis by conventional cytogenetic analysis of cultured umbilical cord cells.
Taiwanese journal of obstetrics & gynecologyRapid postnatal diagnosis of Turner syndrome by array comparative genomic hybridization using extraembryonic tissues in a pregnancy associated with hydrops fetalis, pleural effusion and cystic hygroma on second-trimester ultrasound.
Taiwanese journal of obstetrics & gynecologyA retrospective study for the diagnostic value of chromosomal microarray analysis in fetuses with high-risk prenatal indications.
Frontiers in geneticsA Novel Case of NOTCH1 Variant and Nonimmune Hydrops Fetalis: A Case Report.
Case reports in geneticsSystemic effect of different physiological parameter associated with mirror syndrome.
The journal of obstetrics and gynaecology researchManagement of Chronic Myeloid Leukemia During Pregnancy: Review of Evidence and Treatment Algorithm.
Clinical lymphoma, myeloma & leukemiaGenetic and Sonographic Insights into First-Trimester Fetal Cystic Hygroma: A Retrospective 30-Year Analysis Using 3D/4D Ultrasound and Cytogenetic Evaluation in Croatia (1993-2023).
GenesPiezo1 Channel Activators Yoda1 and Yoda2 in the Context of Red Blood Cells.
BiomoleculesDeceptive appearances: Congenital infections simulating genetic syndromes in fetal Pathology.
Journal of neonatal-perinatal medicineGenetic Mutations of Congenital Red Cell Membrane Defects in Hydrops Fetalis.
Fetal diagnosis and therapyPrenatal Intervention in High-Risk CPAM: Postnatal Outcomes After Fetal versus Standard Surgery: A Propensity Score Matched Study.
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur KinderchirurgieFetal Supraventricular Tachycardia: What Do We Know up to This Day?
Journal of personalized medicineAntenatal shunting and outcomes in fetuses with non-immune hydrops fetalis.
Journal of perinatal medicineMolecular targeted treatment in infants with central conducting lymphatic anomalies.
European journal of pediatricsMirror syndrome and placental ectopic liver in association with de novo SOS1 variant.
European journal of medical geneticsSuccessful Perinatal Management of a Large Fetal Intrapericardial Teratoma by Serial Fetal Echocardiogram and ex utero Intrapartum Treatment.
Fetal diagnosis and therapyEvaluation of stability and potential interference on the α-thalassaemia early eluting peak and immunochromatographic strip test for α-thalassaemia --SEA carrier screening.
Clinical chemistry and laboratory medicineMetabolic profiling of amniotic fluid by differential 12C-/13C-isotope dansylation labeling LC-MS for application in trisomy 21 fetuses.
Metabolomics : Official journal of the Metabolomic SocietyGenetic 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 researchThe fetal hydrops-associated single-residue mutation L322P disrupts mechanical but not chemical activation of the PIEZO1 ion channel.
Proceedings of the National Academy of Sciences of the United States of AmericaNon-Immune Hydrops Fetalis in a Pregnant Woman with Chronic Alcohol Use: A Case Report.
International medical case reports journalHemolytic disease of the fetus and newborn: A review of pathophysiology, diagnosis, and management.
Best practice & research. Clinical obstetrics & gynaecologyDual pathology of parvovirus B19 infection and Aicardi-Goutières syndrome complicating non-immune hydrops fetalis.
BMJ case reportsCase Report: Staged epicardial pacemaker implantation in a 740 g ELBW infant with 25 + 2 weeks of GA with congenital complete heart block.
Frontiers in pediatricsIs parvovirus B19 infection upsurge in 2023-2024 associated with adverse pregnancy outcome?
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyNon-Immune Hydrops Fetalis, Multifocal Chorangiomatosis, and Noonan Syndrome 8.
Congenital anomaliesDiagnosis and Management of Prenatal Hereditary Pyropoikilocytosis.
Prenatal diagnosisDiagnosis and management of large placental chorioangiomas.
Best practice & research. Clinical obstetrics & gynaecologyPerinatal Survival Following Parvovirus B19 Infection: Overall Outcomes and a Secondary Comparison of the 2023-2024 Outbreak to the Previous Two Decades.
Prenatal diagnosisA seven-year retrospective cohort study on non-immune foetal hydrops from a single centre in an LMIC setting.
Journal of perinatal medicineCase Analysis of a Repeated Hydrops Fetalis Caused by Irregular Antibodies of Anti-E and Anti-c.
Clinical laboratoryMorphologic and Electrophoretic Features of Hemoglobin Bart's Hydrops Fetalis.
EJHaemLysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing.
Orphanet journal of rare diseasesCongenital Pulmonary Airway Malformations: Experience of a Tunisian Tertiary Referral Center Over a Five-Year Period.
Pediatric pulmonologyPIEZO1 variant implications for biological understanding and human health.
Open biologyMaternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma-Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex.
American journal of medical genetics. Part AFetal left pulmonary artery-to-left atrial fistula with aplasia of the left lung: successful postnatal transcatheter closure.
Cardiology in the youngTHSD1 Is a Multifaceted Regulator in Health and Disease.
BiomedicinesCommunity Infections Linked with Parvovirus B19 Genomic DNA in Wastewater, Texas, USA, 2023-2024.
Emerging infectious diseasesDual pathology of lower urinary tract obstruction and Brugada syndrome: A rare cause of non-immune hydrops fetalis.
European journal of obstetrics, gynecology, and reproductive biologyOutpatient insurance data indicate increased numbers of Parvovirus B19 infections and -associated miscarriages during the 2024 epidemic in the German federal state Saarland.
Annals of epidemiologyHydrops Fetalis Caused by Congenital Syphilis: Case Series and a Comprehensive Review.
Journal of clinical medicineParvovirus B19 Infection in Pregnancy: Awareness of the Increased Incidence of Severe Intrauterine Infection.
Diagnostics (Basel, Switzerland)A Novel Large Deletion Including the Major Regulatory Element Compounded with SEA Deletion Causing Hydrops-Fetalis-Syndrome.
HemoglobinComparison between INTERGROWTH-21ST and Fenton charts for extrauterine growth in very low birth weigth infants.
Italian journal of pediatricsConcurrent Case of Glucose-6-Phosphate Deficiency and Dehydrated Hereditary Stomatocytosis in a 4-Month-old Boy.
Journal of pediatric hematology/oncologyAberrant Splicing Caused by Compound Heterozygous Variants in WDR35 Identified in a Fetus With Cranioectodermal Dysplasia 2.
Prenatal diagnosisBCR::ABL1 Tyrosine Kinase Inhibitors During Pregnancy, a Disproportionality Analysis of Vigibase.
Clinical pharmacology and therapeuticsAssessment of 5 miscarriages with transcervical embryoscopy.
Fertility and sterilityWhen Giant Lymphangioma Meets Hydrops Fetalis: An Uncommon Case Report of Lower Extremity Involvement.
Maternal-fetal medicine (Wolters Kluwer Health, Inc.)Diagnosis and management of severe SPTA1-associated congenital anaemia in a family cohort affected by two founder variants.
BMJ case reportsHygiene and disinfection measures for parvovirus B19 infections.
GMS hygiene and infection controlThe challenge of Mevalonate Kinase Deficiency as one of the causes of nonimmune hydrops fetalis.
Ginekologia polska[Genetic analysis of a fetus with Farber lipogranulomatosis caused by ASAH1 gene variant].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsPrenatal Diagnosis and Management of Fetal Anemia Caused by Compound Heterozygous Hemoglobin Q-Thailand and Hemoglobin Constant Spring.
Fetal diagnosis and therapyGenetic diseases underlying a spectrum of fetal effusions.
American journal of obstetrics and gynecologyEvaluation of Non-Immune Fetal Hydrops in Resource Poor Country: Challenges Faced in Ascertaining the Etiology.
Prenatal diagnosisPrenatal diagnosis and management of fetal anemia caused by hemoglobin H-Adana: A case report.
The journal of obstetrics and gynaecology researchCharacterization of HbH Disease Caused by Compound Heterozygotes α+-Thalassemia 3.7 kb Deletion and a Large Novel α0-Thalassemia Deletion.
HemoglobinA Chinese pediatric patient with thalassemia traits and compound heterozygous mutations in the PIEZO1 gene suspected of having dehydrated hereditary stomatocytosis.
Hematology (Amsterdam, Netherlands)The Occurrence of Supernumerary Umbilical Cord Vessels: A Review for Practicing Clinicians.
Children (Basel, Switzerland)Bronchopulmonary sequestration in a monochorionic diamniotic preterm twin.
BMJ case reportsAtypical case of neonatal-onset Gaucher disease type 3b: A case report.
Molecular genetics and metabolism reportsThe evolving landscape of hereditary stomatocytosis.
BloodOptical Genome Mapping for Prenatal Diagnosis in Fetuses With Structural Anomalies.
Prenatal diagnosisBiallelic variants in the conserved ribosomal protein chaperone gene PDCD2 are associated with hydrops fetalis and early pregnancy loss.
Proceedings of the National Academy of Sciences of the United States of AmericaIndications 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 GynecologyConsiderations and approaches for early onset fetal anemia due to red cell alloimmunization.
Best practice & research. Clinical obstetrics & gynaecologyPhenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2.
JBMR plusMpox in pregnancy: Unraveling the maternal-fetal risks of a re-emerging disease, a narrative review.
Journal of infection and public healthWhole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare.
Prenatal diagnosisIn-Utero Treatment of Fetal SVT: A Case Report.
Journal of obstetrics and gynaecology of IndiaMyelodysplastic syndrome with ring chromosomes in a case of dehydrated hereditary stomatocytosis 1 (DHS1).
International journal of hematologyHydrops Fetalis Secondary to Left Ventricle Diastolic Collapse Caused by Giant Rhabdomyoma: Utility of 4D STIC and Fetal Heart Quantification Techniques.
Echocardiography (Mount Kisco, N.Y.)Ongoing outbreak of maternal parvovirus B19 infections in Germany since end of 2023: consequence of COVID-19 pandemic?
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyRapid prenatal diagnosis of Down syndrome in a fetus with bilateral pleural effusion and hydrops fetalis in the early second trimester by quantitative fluorescent polymerase chain reaction using the DNA extracted from uncultured amniocytes.
Taiwanese journal of obstetrics & gynecologyRadiofrequency thermal ablation of giant placental chorioangioma complicated with fetal hydrops: a case report and successful outcome.
Case reports in perinatal medicineIntrauterine intestinal obstruction in a preterm infant with severe mevalonate kinase deficiency - a case report.
Maternal health, neonatology and perinatologyCharacterization of severity of hemolytic disease of the fetus and newborn due to Rhesus antigen alloimmunization.
AJOG global reportsEstablishment of an α-thalassemia mouse model through fetal liver cell transplantation and analysis of hematological parameters.
Scientific reportsReliability of the Fenton growth curve method in predicting birth weight in newborns born at or before 36 weeks gestational age.
Frontiers in pediatricsFetal Hydrops: Genetic Dissection of an Unspecific Sonographic Finding-A Comprehensive Review.
Diagnostics (Basel, Switzerland)Enzyme Replacement Therapy in Mucopolysaccharidosis Type VII: A Three-Year Clinical Outcome Study of the First Taiwanese Case.
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 CitologiaDifferential Diagnosis of Hydrops Fetalis: An Imaging Guide.
Radiographics : a review publication of the Radiological Society of North America, IncA rare case of giant placental chorioangioma causing polyhydramnios and fetal hydrops: A case report and literature review.
European journal of obstetrics, gynecology, and reproductive biologyAntenatal diagnosis of lethal Costello syndrome: how fetal exome sequencing using NHS England's R21 pathway accelerated the diagnosis of non-immune hydrops and improved patient experience.
BMJ case reportsC1GALT1C1-Associated Mosaic Disorder of Glycosylation in a Female.
Journal of inherited metabolic diseaseContraception use and pregnancy in women receiving a 2-dose Ebola vaccine in Rwanda: A retrospective analysis of UMURINZI vaccination campaign data.
PLoS medicineMultiplex recombinase polymerase amplification (RPA) assay for carrier detection and prenatal diagnosis of α0-thalassemia (SEA and THAI deletions).
Scandinavian journal of clinical and laboratory investigationPatient experience and burden of haemolytic disease of the foetus and newborn: a systematic review.
BMC pregnancy and childbirthComplex congenital heart and lung defects as a cause of hydrops fetalis in French bulldogs -micro-CT with contrast study.
Scientific reportsPregnancy-associated de novo systemic lupus erythematosus in people living with HIV/AIDS.
Indian journal of sexually transmitted diseases and AIDSFetal hematological phenotypes of various hemoglobinopathies and demonstration of embryonic hemoglobins on capillary electrophoresis: a large cohort data from prenatal screening program.
Diagnosis (Berlin, Germany)Placental mesenchymal dysplasia in a monochorionic-diamniotic twin pregnancy complicated with hydrops fetalis-with a review of literature.
European journal of obstetrics, gynecology, and reproductive biologySerial intrauterine transfusion for severe fetal anemia due to anti-M alloimmunization.
Asian journal of transfusion scienceHydrops of a fetus of unknown etiology with the development of severe intracranial hemorrhage.
Ceska gynekologieFirst-trimester application of non-invasive prenatal testing in the genetic investigation of fetal cystic hygroma and hydrops fetalis associated with Turner syndrome.
Taiwanese journal of obstetrics & gynecologyALG8-CDG: advances in molecular and prenatal phenotyping facilitate prenatal diagnosis and genetic counseling.
QJM : monthly journal of the Association of PhysiciansSevere neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter.
JIMD reportsHow I use noninvasive prenatal testing for red blood cell and platelet antigens.
BloodFetal Therapy for Severe Drug-Resisted Tachyarrhythmia With Progressive Hydrops by Fetoscopic Transesophageal Pacing: A Successful Attempt in Single Chinese Fetal Medicine Center.
Prenatal diagnosisCranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene.
Prenatal diagnosisApplication of third-generation sequencing technology in the genetic testing of thalassemia.
Molecular cytogeneticsParvovirus B19 infection in children: a comprehensive review of clinical manifestations and management.
Italian journal of pediatricsThe First Compound Heterozygosity for Two Different α-Thalassemia Determinants Causes Hb Bart's Hydrops Fetalis in a Chinese Family.
HemoglobinUndiagnosed mirror syndrome with maternal hypoxemia onset during an emergency cesarean section: A case report.
MedicineStillbirth and Congenital Syphilis: Autopsy and Placental Findings of 11 Cases and Review of the Literature.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyCase Report of Meconium Peritonitis: A Rare Cause of Non-immune Hydrops Fetalis.
CureusPersistent hypoglycemia in congenital syphilis: hyperinsulinemic hypoglycemia with a focal pancreatic lesion.
Journal of pediatric endocrinology & metabolism : JPEMHereditary Hemolytic Anemia Due to PIEZO1 Red Blood Cell Membrane Defect.
HemoglobinA rare case report: An early second trimester cystic hygroma with hydrops fetalis.
Radiology case reportsPrenatal Phenotypic Expansion: A Fetus With Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, and Brain Abnormalities (NDDRSB) and MED11 Variants.
Prenatal diagnosisRAS signaling pathway is essential in regulating PIEZO1-mediated hepatic iron overload in dehydrated hereditary stomatocytosis.
American journal of hematologyA novel case of Hb Bart's hydrops fetalis following prenatal diagnosis: Case report from Huizhou, China.
Practical laboratory medicineIdentifying Hemolytic Disease of the Fetus and Newborn within a Large Integrated Health Care System.
American journal of perinatologyNonimmune hydrops fetalis diagnosed at 35 weeks gestation - a case report.
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologieHydroallantois in a mare associated with schistosomus and unilateral ovarian agenesis in the fetus.
Journal of equine veterinary sciencePrenatal mTOR Inhibitors in Tuberous Sclerosis Complex: Current Insights and Future Directions.
Journal of clinical medicineIntrauterine Fetal Demise, Spontaneous Abortion and Congenital Cytomegalovirus: A Systematic Review of the Incidence and Histopathologic Features.
VirusesPregnancy and Long-Term Postnatal Outcomes of Congenital Sacrococcygeal Teratoma: A Single Institution's 18-Year Experience.
Birth defects researchA Splice Site Variant in ADAMTS3 Is the Likely Causal Variant for Pulmonary Hypoplasia with Anasarca in Persian/Persian-Cross Sheep.
Animals : an open access journal from MDPIHuman parvovirus B19 vertical infection and hydrops fetalis. A case report.
Archivos argentinos de pediatriaExome sequencing for nonimmune hydrops fetalis and clinical utility of data reanalysis.
QJM : monthly journal of the Association of PhysiciansSuccessful resection of giant sacrococcygeal teratoma in a 28-week newborn.
Pediatrics international : official journal of the Japan Pediatric SocietyA challenging case of hemolytic disease of the fetus and newborn (HDFN) due to anti-Ku in a K0 (Kellnull) mother.
ImmunohematologyGalactosialidosis presenting as non-immune hydrops.
BMJ case reportsEnsuring Transfusion Safety: Screening Blood Donors for Human Parvovirus B19.
CureusRole of the mechanotransductor PIEZO1 in megakaryocyte differentiation.
Journal of cellular and molecular medicineThe application value of prenatal ultrasound in conjoined twins.
Journal of clinical ultrasound : JCUPrenatal diagnostic errors in hemoglobin Bart's hydrops fetalis caused by rare genetic interactions of α-thalassemia.
Diagnosis (Berlin, Germany)Molecular cytogenetic analysis of mosaic 45,X/46,X,r(X) at amniocentesis in a fetus with hydrops fetalis.
Taiwanese journal of obstetrics & gynecologyPerinatal lethal form Gaucher disease with compound heterozygosity of single nucleotide variants and copy number variations presenting as nonimmune hydrops fetalis and cerebellar hypoplasia: A case report.
Taiwanese journal of obstetrics & gynecologyBirth in the Operating Room for Immediate Cardiac Surgery: A Rare but Effective Strategy.
World journal for pediatric & congenital heart surgeryAntenatal Hydrops in a Dysmorphic Neonate: A Combination of Etiologies.
NeoReviewsPRKAG2 -Related Lethal Congenital Glycogen Storage Disease of the Heart as Rare Cause of Fetal Hydrops With Bradycardia and Cardiomyopathy: Clinical Report and Literature Review.
American journal of medical genetics. Part ADesign of a Phase 3, Global, Multicenter, Randomized, Placebo-Controlled, Double-Blind Study of Nipocalimab in Pregnancies at Risk for Severe Hemolytic Disease of the Fetus and Newborn.
American journal of perinatologyNon-immune hydrops fetalis is associated with bi-allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene.
Clinical geneticsHydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants.
Journal of human geneticsIntrapericardial Teratoma and Associated 3q29 Deletion in a Fetus: Case Report.
Zeitschrift fur Geburtshilfe und NeonatologieLarge placental chorioangioma with maternal and perinatal morbidity.
European journal of obstetrics, gynecology, and reproductive biologyClinical Management of Hydrops Fetalis in a Premature Neonate in India: A Case Report.
CureusNipocalimab in Early-Onset Severe Hemolytic Disease of the Fetus and Newborn.
The New England journal of medicineAssociações
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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.
- Multi-omic analysis identifies a multi-step pathology in a case of multiple chorangioma syndrome in monochorionic twins.
- Prevalence of Severe Thalassemia and Performance of Prenatal Screening Tests Among Pregnant Women at Siriraj Thalassemia Center in Thailand.
- MEK Inhibition Improves Clinical Outcome in Premature Infants With Multisystemic RASA1 Disease.
- Prenatal radiofrequency ablation for bronchopulmonary sequestration: a case report of successful fetal intervention and longitudinal outcomes.The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians· 2026· PMID 41850878mais citado
- Congenital scrub typhus presenting as non-immune hydrops fetalis.
- The Prevalence of Fetal Complete Heart Block and the Role of Positive Autoantibodies in Pregnant Women with Rheumatologic Diseases.
- Maternal Isoimmunization-Associated Fetal Anemia After First-Trimester Abortion: A Case Report and Literature Review.
- Identification of Human Transferrin Receptor as an Entry Co-receptor for Parvovirus B19 Infection of Human Erythroid Progenitor Cells.
- Differential patterns of human parvovirus B19 seropositivity among diabetic and febrile children and adolescents: evidence from the Aseer region of Saudi Arabia.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1041(Orphanet)
- MONDO:0015193(MONDO)
- GARD:2783(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1679678(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
