3,588 results match your criteria Hydrops Fetalis

Parvovirus B19 in Pregnancy: A Case Review.

J Midwifery Womens Health 2021 Jun 8. Epub 2021 Jun 8.

Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Alpert Medical School of Brown University, Providence, Rhode Island.

Parvovirus B19 has been identified as the cause of erythema infectiosum, a common childhood illness. Also known as fifth disease, this virus is highly contagious among school-age children, especially during the winter months when outbreaks within classrooms are widespread. The majority of adults have had the infection in childhood and are immune to recurrence. Read More

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Lysosomal Storage Disorders as an Etiology of Nonimmune Hydrops Fetalis: A Systematic Review.

Clin Genet 2021 May 31. Epub 2021 May 31.

Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Sidney Kimmel College of Medicine at Thomas Jefferson University, Philadelphia, PA, USA.

We performed a systematic review of the literature to evaluate the incidence and types of lysosomal storage disorders (LSD) in case series of nonimmune hydrops fetalis (NIHF). PubMed and Ovid were reviewed for case series evaluating the workup of NIHF diagnosed in utero or in the neonatal period in human subjects from 1979 to August 2020. Retrospective case series with at least five cases of fetal and/or neonatal NIHF with its workup mentioned were identified. Read More

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Mucopolysaccharidosis VII in Brazil: natural history and clinical findings.

Orphanet J Rare Dis 2021 May 22;16(1):238. Epub 2021 May 22.

Ultragenyx Brasil Farmacêutica Ltda, São Paulo, SP, Brazil.

Background: Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, caused by deficiency of the lysosomal enzyme β-glucuronidase, is an ultra-rare disorder with scarce epidemiological data and few publications about natural history and clinical spectrum.

Methods: We conducted a case series report which included retrospective data from all MPS VII patients diagnosed through the "MPS Brazil Network" who were known to be alive in 2020 in Brazil (N = 13). Clinical data were obtained from a review of the medical records and descriptive statistics and variables were summarized using counts and percentages of the total population. Read More

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Thoracic Empyema Secondary to Congenital Chylothorax in a 14-Month-Old Boy with Noonan Syndrome.

Case Rep Pediatr 2021 29;2021:6620353. Epub 2021 Apr 29.

Department of Pediatrics, Tohoku University Hospital, 1-1,Seiryo-Cho,Aoba-Ku, Sendai 980-8574, Japan.

Thoracic empyema usually occurs as a complication of bacterial pneumonia, but in rare cases, it is caused by hematogenous dissemination secondary to nonpulmonary diseases. Congenital chylothorax or chylothorax in children is associated with maldevelopment of the lymphatic system, nonimmune hydrops fetalis, several syndromes including Down syndrome, Noonan syndrome, or Turner syndrome, a complication of thoracic surgery, right heart failure with high central venous pressure, or tumors. There are very few reports of empyema associated with preexisting chylothorax. Read More

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Outcomes of allogeneic transplantation for hemoglobin Bart's hydrops fetalis syndrome in Hong Kong.

Pediatr Transplant 2021 May 18:e14037. Epub 2021 May 18.

Department of Pediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong Special Administrative Region, China.

Background: Hemoglobin Bart's hydrops fetalis syndrome (BHFS) was once considered a fatal condition universally. Medical advances over the past three decades have resulted in increasing numbers of BHFS survivors. This retrospective review summarized local territory-wide experience and outcomes of BHFS patients who received allogeneic hematopoietic stem cell transplantation (HSCT) in Hong Kong. Read More

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Cardiac rhabdomyoma with hydrops fetalis: Prenatal management by abdominal drainage.

Taiwan J Obstet Gynecol 2021 May;60(3):551-553

Department of Obstetrics and Gynecology, CHU Nantes, quai 38 bd Jean Monnet, 44093, Nantes Cedex, France. Electronic address:

Objective: We described a case of fetal cardiac rhabdomyoma complicated by hydrops. And we discussed our approach during pregnancy.

Case Report: A 23-year-old woman primigravida was referred at 29 weeks of gestation (WG) to prenatal unit for a large hyperechogenic intracardiac mass associated with fetal hydrops. Read More

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The N-terminal 5-68 amino acids domain of the minor capsid protein VP1 of human parvovirus B19 enters human erythroid progenitors and inhibits B19 infection.

J Virol 2021 May 5. Epub 2021 May 5.

Department of Microbiology, Molecular Genetics and Immunology, University of Kansas Medical Center, Kansas City, Kansas, USA

Parvovirus B19 (B19V) infection causes diseases in humans ranging from the mild to severe hematological disorders. The unique region of the minor structural protein VP1 (VP1u) of 227 amino acids harbors strong neutralizing epitopes which elicit dominant immune responses in patients. Recent studies have shown that the VP1u selectively binds to and enters B19V permissive cells through an unknown cellular proteinaceous receptor. Read More

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Late-Onset Mirror Syndrome.

Malays Fam Physician 2021 Mar 15;16(1):129-132. Epub 2021 Feb 15.

MD (UKM) MRCOG (UK), Department of Obstetrics & Gynaecology, School of Medical Sciences, Universiti Sains Malaysia, Malaysia.

Mirror syndrome is a rare clinical condition in pregnancy associated with significant fetal mortality and maternal morbidity. It is characterized by a triad of complications: fetal hydrops, placenta oedema, and maternal oedema. We are reporting one case of late-onset Mirror syndrome in which the patient presented later in the gestation of 36 weeks due to excessive weight gain and clinical sign mimicking preeclampsia. Read More

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Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis.

Front Genet 2021 9;12:616392. Epub 2021 Apr 9.

Department of Fetal Medicine, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai, China.

The purpose of the study was to use exome sequencing (ES) to study the contribution of single-gene disorders to recurrent non-immune hydrops fetalis (NIHF) and retrospectively evaluate the value of genetic diagnosis on prenatal management and pregnancy outcome. From January 2012 to October 2018, a cohort of 28 fetuses with recurrent NIHF was analyzed by trio ES. Fetuses with immune hydrops, non-genetic factors (including infection, etc. Read More

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ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

Brain 2021 Apr 21. Epub 2021 Apr 21.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.

Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct isoforms of the Na+/K+-ATPase (NKA) alpha-subunit, have been associated with familial hemiplegic migraine (ATP1A2), alternating hemiplegia of childhood (ATP1A2/A3), rapid-onset dystonia-parkinsonism, cerebellar ataxia-areflexia-progressive optic atrophy, and relapsing encephalopathy with cerebellar ataxia (all ATP1A3). A few reports have described single individuals with heterozygous mutations of ATP1A2/A3 associated with severe childhood epilepsies. Early lethal hydrops fetalis, arthrogryposis, microcephaly, and polymicrogyria have been associated with homozygous truncating mutations in ATP1A2. Read More

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Tale of two viruses: parvovirus B19 and HIV.

BMJ Case Rep 2021 Apr 20;14(4). Epub 2021 Apr 20.

Department of Paediatric Infectious Diseases, Imperial College Healthcare NHS Trust, London, UK.

We present a HIV-infected patient who developed severe anaemia due to chronic parvovirus B19 infection and subsequently had an unplanned pregnancy. This is in the context of poor adherence to antiretroviral therapy and significant immunosuppression; there was a delay in diagnosis of chronic parvovirus infection due to attribution of anaemia to HIV. She received immunoglobulin therapy and effective antiretroviral therapy, with reduction in parvovirus load and improvement in anaemia. Read More

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Non-immune hydrops fetalis secondary to congenital chylothorax with diffuse interstitial lung disease: a diagnostic conundrum.

BMJ Case Rep 2021 Apr 16;14(4). Epub 2021 Apr 16.

Department of Neonatal and Developmental Medicine, Singapore General Hospital, Singapore.

A Chinese male infant was born at 35 weeks weighing 2935 g to a mother with polyhydramnios and prenatal hydrops fetalis. He developed marked respiratory distress secondary to bilateral congenital chylothorax and required pleural drainage, high frequency oscillation and inhaled nitric oxide therapy. He was extubated to non-invasive ventilation by day 14. Read More

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Fetal hydrops and the Incremental yield of Next generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis.

Ultrasound Obstet Gynecol 2021 Apr 13. Epub 2021 Apr 13.

Institute of Metabolism and Systems Research, College of Medical & Dental Sciences, University of Birmingham, Edgbaston, Birmingham, UK.

Objectives: Determine the incremental yield of next generation sequencing (predominantly exome sequencing (ES)) over quantitative fluorescence-polymerase chain reaction (QF-PCR) and chromosome microarray analysis (CMA)/karyotyping in; (i) all cases of prenatally diagnosed non-immune hydrops fetalis (NIHF); (ii) isolated NIHF; (iii) NIHF associated with additional structural anomalies and; (iv) NIHF according to severity (i.e., two cavities versus three or more cavities affected). Read More

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Hb Bart's Hydrops Fetalis Syndrome and Hb H Disease Caused by Deletional Chiang Rai (- -) α-Thalassemia in Two Unrelated Thai Families.

Hemoglobin 2021 Apr 6:1-5. Epub 2021 Apr 6.

Division of Clinical Microscopy, Department of Medical Technology, Faculty of Associated Medical Sciences, Chiang Mai University, Chiang Mai, Thailand.

α-Thalassemia (α-thal) Chiang Rai (- -; NC_000016.10: g.144215_188843del) was identified as a novel 44. Read More

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Neonatal Hydrops Simulation Model: A Technical Report.

Cureus 2021 Feb 24;13(2):e13535. Epub 2021 Feb 24.

Division of Neonatology, The Children's Hospital at Montefiore, Bronx, USA.

This technical report describes the creation of a model of a newborn with hydrops fetalis (HF). This model is easy to assemble, quite authentic and reusable allowing for many neonatal intensive care providers to practice rare, life-saving procedures. Learning objectives and a critical action checklist have been included to guide the simulation and add additional complexity to the scenario, if desired. Read More

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February 2021

[Isolated fetal pericardial effusion follow-up: Should we worry?]

An Pediatr (Engl Ed) 2021 Mar 26. Epub 2021 Mar 26.

Unidad de Cardiología Pediátrica, Servicio de Pediatría, Hospital Infantil Universitario Miguel Servet, Zaragoza, España.

Introduction And Objectives: Fetal pericardial effusion appears in different pathologies such as hydrops fetalis, heart structural or rhythm alterations, however, it can be observed in isolation but an increase in its incidence has been observed in relation to the presence of severe pathologies.

Methods: Analysis of all cases of IFPE detected in Aragon and assessed in a cardiological consultation for prenatal diagnosis of a tertiary hospital collected over 10years, as well as the evolution of the patients to the present.

Results: A sample of 38 fetuses was obtained from 37 pregnant women diagnosed with DPFA with spontaneous resolution in 86. Read More

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Neonatal hereditary spherocytosis caused by a de novo frameshift mutation of the SPTB gene characterized by hydrops fetalis: A case report.

Medicine (Baltimore) 2021 Mar;100(12):e24804

Department of Pediatrics, Peking University People's Hospital, Beijing, China.

Rationale: The etiology of non-immune hydrops fetalis is complex, and its prognosis is poor. One of its main causes is anemia. There are few reports on hydrops fetalis due to anemia caused by hereditary spherocytosis (HS), especially regarding its occurrence in the neonatal period. Read More

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Hydrops fetalis with isolated massive ascites in a preterm neonate with rhesus disease.

Wien Med Wochenschr 2021 Mar 18. Epub 2021 Mar 18.

Hospital for General Pediatrics and Neonatology, Saarland University Medical Center, 66421, Homburg/Saar, Germany.

Significant progress in prenatal care has decreased the incidence of rhesus incompatibility, which may result in hemolytic disease of the fetus and newborn (HDFN). This case report describes an unusual presentation of HDFN in a preterm infant delivered by caesarean section with isolated massive abdominal fluid collection as the leading clinical sign in addition to severe anemia. The immediate drainage of ascites provided transient clinical stabilization with improved pulmonary function in the delivery suite. Read More

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Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.

J Med Genet 2021 Mar 18. Epub 2021 Mar 18.

Department of Pediatric Metabolism, Reference Center of Inherited Metabolic Disorders, Femme Mère Enfant Hospital, Lyon, France.

Introduction: This study aims to define the phenotypic and molecular spectrum of the two clinical forms of β-galactosidase (β-GAL) deficiency, GM1-gangliosidosis and mucopolysaccharidosis IVB (Morquio disease type B, MPSIVB).

Methods: Clinical and genetic data of 52 probands, 47 patients with GM1-gangliosidosis and 5 patients with MPSIVB were analysed.

Results: The clinical presentations in patients with GM1-gangliosidosis are consistent with a phenotypic continuum ranging from a severe antenatal form with hydrops fetalis to an adult form with an extrapyramidal syndrome. Read More

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Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement.

Mol Genet Genomic Med 2021 Apr 16;9(4):e1624. Epub 2021 Mar 16.

Guangxi Health Commission Key Laboratory of Precise Diagnosis and Treatment of Genetic Diseases, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.

Background: Congenital hydrocephalus-3 with brain anomalies (HYC3, MIM 617967) is a rare form of congenital hydrocephalus characterized by severe hydrocephalus and cerebellar abnormalities, the onset of the disease occurs in utero even resulting in fetal death. A very limited spectrum of WDR81 pathogenic variants had been reported in three unrelated families with HYC3. This study aims at presenting novel compound heterozygous frameshift variants in WDR81 in a Chinese fetus. Read More

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High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study.

Genet Med 2021 Mar 8. Epub 2021 Mar 8.

Center for Genetic Medicine Research/Rare Disease Institute, Children's National Medical Center, Washington, DC, USA.

Purpose: Nonimmune hydrops fetalis (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 with prenatal exome sequencing (ES) for NIHF following a negative standard NIHF workup.

Methods: Participants enrolled into the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) study met a strict definition of NIHF and had negative standard-of-care workup. Read More

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Staged Management of Congenital Chylothorax With Hydrops Fetalis: An Insight Into EXIT Related Procedures.

Front Pediatr 2021 17;9:633051. Epub 2021 Feb 17.

Division of Neonatalogy, Department of Pediatrics, Chang Gung Memorial Hospital, Taoyuan City, Taiwan.

Idiopathic congenital chylothorax is a rare but serious disease. Advancement in perinatal care and the renovated treatment modalities have brought about significant improvement in patient outcome. To describe the clinical course of severe forms of idiopathic congenital chylothorax, focusing on the development of recent treatment modalities and their impacts. Read More

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February 2021

Hydrops fetalis in PKD1L1-related heterotaxy: Report of two foetuses and expanding the phenotypic and molecular spectrum.

Ann Hum Genet 2021 05 2;85(3-4):138-145. Epub 2021 Mar 2.

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, 110029, India.

Abnormalities in the normal left-right axis asymmetry range from situs inversus totalis to situs ambiguous or heterotaxy. More than 80 genes have been described to have a role in the establishment of the normal situs of the internal organs. Pathogenic variants in the PKD1L1 gene have recently been described in heterotaxy and congenital heart disease. Read More

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Congenital Chylothorax and Hydrops Fetalis: A Novel Neonatal Presentation of Mutation.

Pediatrics 2021 Mar;147(3)

Department of Pediatrics, Queen's University, Kingston, Ontario, Canada

Mutations in the gene are known to cause arteriovenous malformations (AVMs), with evidence of associated lymphatic malformations. We report for the first time, to the best of our knowledge, an infant with mutation presenting with hydrops fetalis and chylothorax, but without an associated AVM. Previously, researchers studying rodents have found chylothorax associated with mutations, and, in previous case reports, researchers have reported on infants with mutations born with hydrops fetalis and AVMs. Read More

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Characterisation of two unusual cases of haemoglobin Bart's hydrops foetalis caused by - and large novel α-globin gene cluster deletions.

J Int Med Res 2021 Feb;49(2):300060521993642

Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.

Background: We describe 2 unusual haemoglobin (Hb) Bart's hydrops cases that could not be explained by traditional factors. Two families with a diagnosis or history of foetal hydrops were enrolled. A suspension-array system was used to detect the 23 most frequent mutations in southern China. Read More

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February 2021

Manifestations of thrombospondin type-1 domain-containing protein 1 gene mutation in an extremely premature infant with nonimmune hydrops fetalis.

Am J Med Genet A 2021 05 11;185(5):1598-1601. Epub 2021 Feb 11.

Department of Pediatrics, SSMC Hospital, Abu Dhabi, United Arab Emirates.

Homozygous variants of the thrombospondin type-1 domain-containing 1 (THSD1) gene have recently been associated with nonimmune hydrops fetalis (NIHF; OMIM 236750) in infants, as well as with congenital heart disease, hemangiomas, prematurity, and embryonic lethality. Here, we report the first case of a biallelic variant of THSD1 in an extremely premature infant (25 weeks) who suffered from NIHF (eventually resolved) and other manifestations of the THSD1 variant, such as congenital heart disease and hemangiomas. Her prematurity was complicated by pulmonary hypertension and chronic lung disease. Read More

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Genetics and Clinical Features of Noncompaction Cardiomyopathy in the Fetal Population.

Front Cardiovasc Med 2020 20;7:617561. Epub 2021 Jan 20.

Beijing Anzhen Hospital, Capital Medical University, Beijing, China.

Noncompaction Cardiomyopathy (NCCM) has been classified as primary genetic cardiomyopathy and has gained increasing clinical awareness; however, little is known about NCCM in the fetal population. We aimed to investigate the clinical characteristics and genetic spectrum of a fetal population with NCCM. We retrospectively reviewed all fetuses with a prenatal diagnosis of NCCM at a single center between October 2010 and December 2019. Read More

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January 2021

Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy.

Eur J Hum Genet 2021 May 5;29(5):808-815. Epub 2021 Feb 5.

Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany.

Perinatal mortality is a heavy burden for both affected parents and physicians. However, the underlying genetic causes have not been sufficiently investigated and most cases remain without diagnosis. This impedes appropriate counseling or therapy. Read More

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