A singleton pregnancy with placental chorioangioma and hydropsfetalis complicated with mirror syndrome and ritodrine-induced side effects: a case report. Ritodrine hydrochloride is a widely used beta-adrenergic agonist used to stop preterm labor in Taiwan. Many side effects causing maternal morbidity and mortality have been reported. We report a case complicated with ritodrine-induced side
Haemoglobin Bart's HydropsFetalis: Charting the Past and Envisioning the Future. Haemoglobin Bart's hydropsfetalis syndrome (BHFS) represents the most severe form of α-thalassaemia, arising from deletion of the duplicated α-globin genes from both alleles. The absence of α-globin leads to the formation of non-functional haemoglobin Bart's (γ4) or haemoglobin H (HbH: β4) resulting in severe anaemia, tissue hypoxia, and, in some cases, variable congenital or neurocognitive abnormalities. BHFS is the most common cause of hydropsfetalis in Southeast Asia; however, owing to global migration, the burden of this condition is increasing worldwide. With the availability of intensive perinatal care and intrauterine transfusions, an increasing number of patients survive with this condition
Non-immune hydropsfetalis is associated with bi-allelic pathogenic variants in the MYB Binding Protein 1a (MYBBP1A) gene. Non-immune hydropsfetalis (NIHF) is a rare entity characterized by excessive accumulation of fluid within the fetal extravascular compartments and body cavities. Here we present two intrauterine fetal demises with NIHF presenting with oligohydramnios, cystic hygroma, pleural of hydropsfetalis. More cases and further studies are necessary to understand the role of this gene and the mechanism associated with NIHF.
Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydropsfetalis. Hydropsfetalis, a pathological fluid accumulation in two or more body compartments, is aetiologically heterogeneous. We investigated a consanguineous family with recurrent pregnancy loss due to severe early-onset non-immune hydropsfetalis. Whole exome sequencing in four fetuses with hydropsfetalis revealed factor-like domains 1 and 2) pathway. It is critical to the formation and remodelling of blood and lymphatic vessels and is involved in vessel maintenance. ANGPT2 knockout mice die from generalised lymphatic dysfunction. We show here that a homozygous pathogenic variant causes loss-of-function and results in severe early-onset hydropsfetalis. This is the first report of an autosomal recessive -related
Outcome and etiology of fetal pleural effusion, fetal ascites, and hydropsfetalis after fetal intervention: retrospective observational cohort from a single institution. Nonimmune hydropsfetalis (NIHF) is the pathological accumulation of fluids in fetal compartments without maternal isoimmunisation. Fetal interventions (e.g. shunting, fetal paracentesis, fetal thoracocentesis, and fetal
Exome sequencing vs targeted gene panels for the evaluation of nonimmune hydropsfetalis. Next-generation sequencing is increasingly used in prenatal diagnosis. Targeted gene panels and exome sequencing are both available, but the comparative diagnostic yields of these approaches are not known. We compared the diagnostic yield of exome sequencing with the simulated application of commercial targeted gene panels in a large cohort of fetuses with nonimmune hydropsfetalis. This was a secondary analysis of a cohort study of exome sequencing for nonimmune hydropsfetalis, in which recruitment, exome sequencing, and phenotype-driven variant analysis were completed in 127 pregnancies with features of nonimmune hydropsfetalis. An Internet search was performed to identify commercial laboratories
Omenn Syndrome due to RAG1 Mutation Presenting With Nonimmune HydropsFetalis in Two Siblings. Omenn syndrome (OS) is a rare variant of severe combined immunodeficiency characterized by susceptibility to severe opportunistic infections and peculiar manifestations, such as protein-losing erythroderma, alopecia, hepatosplenomegaly, lymphadenopathies, and severe diarrhea. The typical form with OS usually succumb early in life because of opportunistic infections. The incidence of OS is estimated to be <1 per 1 000 000; however, the actual frequency is difficult to ascertain. We report 2 siblings affected by OS due to a homozygous frameshift mutation (NM_000448.3:c.519delT, p.E174Sfs*26) in the RAG1 gene presenting with nonimmune hydropsfetalis (NIHF). To the best of our knowledge
Diagnostic yield using whole-genome sequencing and in-silico panel of 281 genes associated with non-immune hydropsfetalis in clinical setting. To investigate the diagnostic yield of clinical whole-genome sequencing (WGS) in prenatally diagnosed non-immune hydropsfetalis (NIHF). This was a retrospective study of 23 fetuses with prenatally diagnosed NIHF, negative for trisomies and copy-number variants, referred for analysis by WGS with an in-silico panel of 281 genes associated with hydropsfetalis. Due to identification of a high proportion of causative variants in the HRAS gene in the main cohort, Sanger sequencing of HRAS was performed in a replication cohort, consisting of 24 additional fetuses with NIHF that were negative for trisomies and copy-number variants and had not undergone WGS
Perinatal presentations of non-immune hydropsfetalis due to recessive PIEZO1 disease: a challenging fetal diagnosis. Hydropsfetalis is a rare disorder associated with significant perinatal complications and a high perinatal mortality of at least 50%. Nonimmune hydropsfetalis (NIHF) is more frequent and results from a wide variety of etiologies. One cause of NIHF is lymphatic malformation 6
Cost-Effectiveness of Exome Sequencing versus Targeted Gene Panels for Prenatal Diagnosis of Fetal Effusions and Non-Immune HydropsFetalis. Although exome sequencing has a greater overall diagnostic yield than targeted gene panels in the evaluation of nonimmune hydropsfetalis and fetal effusions, the cost-effectiveness of this approach is not known. This study aimed to evaluate the costs and outcomes of targeted gene panels vs exome sequencing for prenatally diagnosed nonimmune hydropsfetalis and fetal effusions when next-generation sequencing is pursued following nondiagnostic standard nonimmune hydropsfetalis evaluations, including karyotype or chromosomal microarray. A decision-analytical model was designed using TreeAge Pro to compare 10 genetic testing strategies, including a single
High diagnosis rate for nonimmune hydropsfetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study. Nonimmune hydropsfetalis (NIHF) presents as life-threatening fluid collections in multiple fetal compartments and can be caused by both genetic and non-genetic etiologies. We explored incremental diagnostic yield of testing
Exome Sequencing for Prenatal Diagnosis in Nonimmune HydropsFetalis. The cause of most fetal anomalies is not determined prenatally. Exome sequencing has transformed genetic diagnosis after birth, but its usefulness for prenatal diagnosis is still emerging. Nonimmune hydropsfetalis (NIHF), a fetal abnormality that is often lethal, has numerous genetic causes; the extent to which exome
De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetalhydrops. Fetalhydrops as detected by prenatal ultrasound usually carries a poor prognosis depending on the underlying aetiology. We describe the prenatal and postnatal clinical course of two unrelated female probands in whom heterozygous missense variants in the planar cell polarity gene were detected using exome sequencing. Using several in vitro assays, we show that the p.(Cys1318Tyr) variant disrupted the subcellular localisation, affected cell-cell junction, impaired planar cell polarity signalling and lowered proliferation rate. These observations suggest that deleterious rare variants could be a possible cause of fetalhydrops.
Biallelic ANGPT2 loss-of-function causes severe early onset nonimmune hydropsfetalis Biallelic ANGPT2 loss-of-function causes severe early onset nonimmune hydropsfetalis - JMG Contact blog Skip to content * Home * JournalBiallelic ANGPT2 loss-of-function causes severe early onset nonimmune hydrops fetalisPosted on December 9, 2021 by hqquVariants in the angiopoietin 2 (ANGPT2) gene were recently shown to cause lymphedema in children and adults by dominant inheritance. In a single family that experienced recurrent pregnancy loss due to severe generalized swelling of the fetuses (hydropsfetalis), we identified a novel disorder caused by bi-allelic variants in the ANGPT2 gene. Angiopoietin 2 is crucial for formation of lymphatic vessels, and complete loss of angiopoietin 2 function seems
SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic-related fetalhydrops and facial dysmorphology. Variants in EPHB4 (Ephrin type B receptor 4), a transmembrane tyrosine kinase receptor, have been identified in individuals with various vascular anomalies including Capillary Malformation-Arteriovenous Malformation syndrome 2 and lymphatic-related (non-immune ) fetalhydrops (LRHF). Here, we identify two novel variants in EPHB4 that disrupt the SAM domain in two unrelated individuals. Proband 1 presented within the LRHF phenotypic spectrum with hydrops, and proband 2 presented with large nuchal translucency prenatally that spontaneously resolved in addition to dysmorphic features on exam postnatally. These are the first disease associated variants identified
[A case of neonatal hereditary spherocytosis characterized by hydropsfetalis]. 1例以宫内胎儿水肿为特征的患儿，新生儿期表现为间接胆红素增高为主的重度高胆红素血症、网织红细胞比例增高、重度贫血、肝脾肿大。基因测序结果显示存在SPTB基因移码变异，为c.5165_c.5166delTT，为新发变异，确诊为遗传性球形红细胞增多症。以非免疫性胎儿水肿为特征的遗传性球形红细胞增多症少见，对于临床高度怀疑而常规辅助检查不支持的新生儿遗传性球形红细胞增多症，基因检测可协助确诊。.
Nonimmune hydropsfetalis: Genetic analysis and clinical outcome. To investigate the genetic causes and clinical outcomes of nonimmune hydropsfetalis (NIHF). Cohort of cases of NIHF between July 2013 and December 2018. Initial genetic testing included quantitative fluorescence polymerase chain reaction for aneuploidies, karyotyping and chromosomal microarray analysis (CMA). In negative results
Lysosomal storage disease spectrum in nonimmune hydropsfetalis: a retrospective case control study. Nonimmune hydropsfetalis (NIHF) accounts for 90% of hydropsfetalis cases. About 15% to 29% of unexplained NIHF cases are caused by lysosomal storage diseases (LSD). We review the spectrum of LSD and associated clinical findings in NIHF in a cohort of patients referred to our institution. We
Utility of chromosomal microarray for diagnosis in cases of nonimmune hydropsfetalis. Chromosomal microarray (CMA) is recommended in the diagnostic evaluation of cases with fetal structural anomalies when invasive testing is pursued. However, the utility of CMA for nonimmune hydropsfetalis (NIHF) specifically is not well known. Our objective was to describe the overall yield of CMA
Hydropsfetalis and neonatal abdominal compartment syndrome continuum from immature gastric teratoma: a case report. Hydropsfetalis as well as abdominal compartment syndrome (ACS) are conditions that are associated with high mortality rates. A rare case of immature gastric teratoma causing fetalhydrops and subsequent ACS is presented. The related pathophysiologic mechanisms are discussed levels 15 months following surgery. The presence of a massive intra-abdominal lesion can result in the pathophysiologic continuum of hydropsfetalis and neonatal ACS. The early recognition of such an association can enable appropriate expectant management of similarly affected neonates, including emergent decompression laparotomy.