3,723 results match your criteria Hydrops Fetalis

Placental phenotype in non-immune hydrops fetalis with negative standard work-up.

Ultrasound Obstet Gynecol 2022 Jun 17. Epub 2022 Jun 17.

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

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Diagnostic value of congenital pulmonary airway malformation volume ratio for fetal hydrops due to congenital lung malformations: a systematic review and meta-analysis.

Orphanet J Rare Dis 2022 06 3;17(1):213. Epub 2022 Jun 3.

Department of Epidemiology and Health Statistics, West China School of Public Health and West China Fourth Hospital, Sichuan University, Sichuan, China.

Objective: Meta-analysis was used to evaluate the diagnostic value of a CVR cut-off value of 1.6 for fetal hydrops due to congenital lung malformation (CLM).

Methods: A systematic search of PubMed, Embase, Web of Science, CNKI, VIP, and Wanfang published before 7/30/2021 for the value of a congenital pulmonary airway malformation volume ratio (CVR) cut-off value of 1. Read More

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A One-Year-Old Girl With Human Parvovirus B19 Infection and Hypocomplementemia Mimicking Incomplete Kawasaki Disease.

J Med Cases 2022 May 23;13(5):229-234. Epub 2022 Apr 23.

Department of Pediatrics, Kitami Red Cross Hospital, Kitami, Hokkaido 090-8666, Japan.

Human parvovirus B19 (B19) is a single-stranded DNA virus that targets erythroid progenitor cells in the bone marrow. B19 causes erythema infectiosum in children, transient aplastic anemia, pure red cell aplasia, hydrops fetalis, and contributes to other illnesses. An association between B19 infection and hypocomplementemia and rheumatoid arthritis has been reported, but the underlying mechanisms remain unclear. Read More

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Orphan G-Protein Coupled Receptor GPRC5B Is Critical for Lymphatic Development.

Int J Mol Sci 2022 May 20;23(10). Epub 2022 May 20.

Department of Cell Biology and Physiology, The University of North Carolina, Chapel Hill, NC 27599, USA.

Numerous studies have focused on the molecular signaling pathways that govern the development and growth of lymphatics in the hopes of elucidating promising druggable targets. G protein-coupled receptors (GPCRs) are currently the largest family of membrane receptors targeted by FDA-approved drugs, but there remain many unexplored receptors, including orphan GPCRs with no known biological ligand or physiological function. Thus, we sought to illuminate the cadre of GPCRs expressed at high levels in lymphatic endothelial cells and identified four orphan receptors: GPRC5B, AGDRF5/GPR116, FZD8 and GPR61. Read More

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Ligation of patent ductus arteriosus through left anterior mini-thoracotomy in preterm infants.

Cardiol Young 2022 May 25:1-6. Epub 2022 May 25.

Department of Pediatric Cardiology, Dr. Gazi Yasargil Training and Research Hospital, Diyarbakir, Turkey.

Objective: Patent ductus arteriosus is an important cause of morbidity and mortality, especially in very low birth weight infants. The aim of the study is to report our single-centre short-term results of preterm patients who underwent ligation through left anterior mini-thoracotomy .

Methods: Data of 27 preterm infants operated by the same surgeon who underwent Patent ductus arteriosus (PDA) closure with left anterior mini-thoracotomy technique between November 2020 and January 2022 at a single institution were reviewed. Read More

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Inborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations.

Front Pediatr 2022 6;10:891343. Epub 2022 May 6.

Department of Pediatrics, Faculdade de Medicina, Universidade de São Paulo, Sao-Paulo, Brazil.

In this article we revised the literature on Inborn Errors of Immunity (IEI) keeping our focus on those diseases presenting with intrauterine or perinatal clinical manifestations. We opted to describe our findings according to the IEI categories established by the International Union of Immunological Societies, predominantly addressing the immunological features of each condition or group of diseases. The main finding is that such precocious manifestations are largely concentrated in the group of primary immune regulatory disorders (PIRDs) and not in the group of classical immunodeficiencies. Read More

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Prenatal case of RIT1 mutation associated Noonan syndrome by whole exome sequencing (WES) and review of the literature.

Taiwan J Obstet Gynecol 2022 May;61(3):535-538

Department of Obstetrics and Gynecology, Shuang Ho Hospital, Taipei Medical University, New Taipei City, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan. Electronic address:

Objective: We aimed to identify the genetic cause of one hydrops fetalis with Noonan syndrome (NS) manifestations including increased nuchal translucency (INT) and ascites through prenatal whole exome sequencing (WES).

Case Report: The case is a gestational age (GA) 18 fetus of two healthy parents with a normal child. We proceeded the genomic DNA from both fetus amniotic cells and parents to WES and identified a RIT1 mutation (c. Read More

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Pulmonary lymphangiectasia in myotubular myopathy: a novel unrecognized association?

Neuromuscul Disord 2022 Jun 2;32(6):512-515. Epub 2022 May 2.

Division of Neonatology, Department of Pediatrics, McGill University Health Centre, Montreal, Quebec, Canada.

Chylothorax has been reported in rare cases of X-linked myotubular myopathy, but the pathophysiology of this association is not fully understood. We report a case of a neonate presenting prenatally with hydrops and chylothorax. The patient died at 17 days of life due to respiratory failure secondary to severe pulmonary hypertension. Read More

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A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.

Prenat Diagn 2022 06 20;42(7):901-910. Epub 2022 May 20.

Department for Women's Health, University Hospital of Tübingen, Tübingen, Germany.

Objectives: To examine the diagnostic yield of trio exome sequencing in fetuses with multiple structural defects with no pathogenic findings in cytogenetic and microarray analyses.

Methods: We recruited 51 fetuses with two or more defects, non-immune fetal hydrops or fetal akinesia deformation syndrome|or fetal akinesia deformation sequence (FADS). Trio exome sequencing was performed on DNA from chorionic villi samples and parental blood. Read More

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Discordant expression of maternal SLE in twin pregnancy with a single fetal AV block: A case report.

J Neonatal Perinatal Med 2022 Apr 25. Epub 2022 Apr 25.

Department of Pediatrics, Division of Pediatric Cardiology, University of Texas Medical Branch, Galveston, Texas, USA.

There are multiple manifestations in the neonatal period for infants born to mothers with systematic lupus erythematosus (SLE), ranging from cardiac, hematologic and dermatologic abnormalities. Cardiac complications may arise in utero in the form of heart block with a resulting increase in fetal mortality. The fetal conduction system is suspected to be affected by transplacental maternal antibodies, however additional environmental and fetal factors appear to play a role. Read More

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Hydrops fetalis and failure of hematopoietic stem cell transplantation - A long route to the diagnosis of SPTA1-associated hereditary spherocytosis.

Blood Cells Mol Dis 2022 Jul 16;95:102664. Epub 2022 Apr 16.

Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic. Electronic address:

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Loop-mediated isothermal amplification (LAMP) colorimetric phenol red assay for rapid identification of α0-thalassemia: Application to population screening and prenatal diagnosis.

PLoS One 2022 28;17(4):e0267832. Epub 2022 Apr 28.

Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.

Background: Identification of α0-thalassemia (SEA and THAI deletions) is essential in preventing and controlling of severe thalassemia diseases. We have developed the LAMP colorimetric assays for the detection of these two thalassemia defects and validated them in population screening and prenatal diagnosis.

Methods: Three LAMP colorimetric assays specific for α0-thalassemia (SEA deletion), α0-thalassemia (THAI deletion) and normal DNA sequence were developed. Read More

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Survival of Hydrops Fetalis with and without Fetal Intervention.

Children (Basel) 2022 Apr 8;9(4). Epub 2022 Apr 8.

Department of Neonatology, Changhua Christian Children's Hospital, Changhua 50050, Taiwan.

Objectives: To investigate the survival rate of hydrops fetalis after fetal interventions and neonatal intensive care.

Methods: We reviewed the medical records of patients diagnosed with hydrops fetalis from January 2009 to December 2019 at Changhua Christian Children's Hospital. All cases had abnormal fluid accumulation in at least two body compartments during pre- and postnatal examination. Read More

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

An Pediatr (Engl Ed) 2022 Apr 16;96(4):342-348. Epub 2022 Apr 16.

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

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 ten years, 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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Atypical fetal junctional ectopic tachycardia: a case report and literature review.

BMC Pregnancy Childbirth 2022 Apr 11;22(1):311. Epub 2022 Apr 11.

Department of Obstetrics and Gynecology, Shiga University of Medical Science Hospital, Setatsukinowa-cho, Otsu, Shiga, 520-2192, Japan.

Background: Junctional ectopic tachycardia (JET) is caused by ectopic rhythms, originating in the atrioventricular node, typically with heart rate between 200 and 250 bpm. Herein, we present a case of fetal JET with normal fetal heart rate and a review of nine cases.

Case Presentation: A 32-year-old, gravida 2, para 1, woman in whom fetal JET could not be diagnosed prenatally because the fetal heart rate was within the normal range. Read More

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A single center experience in 90 cases with nonimmune hydrops fetalis: diagnostic categories ‒ mostly aneuploidy and still often idiopathic.

J Perinat Med 2022 Apr 11. Epub 2022 Apr 11.

Department of Neonatology, Universitätsmedizin der Johannes Gutenberg-Universität Mainz, Mainz, Germany.

Objectives: The prognosis of nonimmune hydrops fetalis (NIHF) is still poor with a high mortality and morbidity rate despite progress in perinatal care. This study was designed to investigate etiology and outcome of NIHF.

Methods: A retrospective review of 90 NIHF cases from 2007 to 2019 was conducted at University Medical Center of the Johannes Gutenberg University, Mainz, Germany. Read More

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Diagnostic yield using whole-genome sequencing and an in-silico gene panel of 281 genes associated with non-immune hydrops fetalis in a clinical setting.

Ultrasound Obstet Gynecol 2022 Apr 9. Epub 2022 Apr 9.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

Objectives: To investigate the diagnostic yield of clinical whole genome sequencing in prenatally diagnosed cases of non-immune hydrops fetalis.

Methods: In the main part of this retrospective study, 23 cases with suspected non-immune hydrops fetalis, negative for trisomies and copy number variants, were analyzed with whole genome sequencing and an in silico gene panel of 281 genes associated with hydrops fetalis. In order to further investigate the high proportion of identified variants in HRAS, Sanger sequencing of HRAS was performed on a replication cohort, consisting of 24 additional fetuses with hydrops fetalis, negative for trisomies and copy number variants, but where whole genome sequencing had not been performed. Read More

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Prenatal ultrasonic features of a mediastinal teratoma: A case report and literature review.

J Clin Ultrasound 2022 Apr 8. Epub 2022 Apr 8.

Department of Ultrasound, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.

Fetal mediastinal teratomas represent only 10% of congenital teratomas in children and 2.6% of all mediastinal masses in children. Teratomas have multifactorial etiology, such as chromosomal abnormalities. Read More

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Non-immune hydrops fetalis caused by PIEZO1 compound heterozygous deletions detected only by exome sequencing.

Prenat Diagn 2022 06 11;42(7):890-893. Epub 2022 Apr 11.

The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

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Preliminary mechanism in fetal alloimmune thrombocytopenia associated with anti-HPA 15b antibodies.

J Obstet Gynaecol Res 2022 Apr 6. Epub 2022 Apr 6.

Institute of Blood Transfusion, Guangzhou Blood Centre, Guangzhou, Guangdong, p.R. China.

Objective: Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is a bleeding disease that can cause fetal hydrops, a rare but life-threatening condition in which abnormal amounts of fluid accumulate in one or two areas of the fetus's body. A case of FNAIT with fetal hydrops caused by anti-HPA-15b antibodies was involved in this study, as we investigated whether or not anti-HPA-15b antibodies can induce endothelial angiogenesis and apoptosis.

Methods: The monoclonal antibody immobilization of platelet antigens assay (MAIPA) was used to identify anti-HPA-15b antibodies. Read More

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First trimester screening: Increased nuchal translucency or cystic hygroma?

Ultraschall Med 2022 04 5;43(2):111-114. Epub 2022 Apr 5.

Centre for Ultrasound and Prenatal Medicine, Frankfurt/Main, Germany.

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Neonatal Arterial Tortuosity and Adult Aortic Aneurysm-Is There a Missing Link?-A Case Report.

Front Pediatr 2021 15;9:814773. Epub 2022 Mar 15.

Yong Loo Lin School of Medicine, Singapore, Singapore.

We report a novel case of a full term newborn with non-immune fetal hydrops and arterial tortuosity mimicking a double aortic arch, and cranial fractures in the immediate neonatal period. The infant had no classic features of neonatal arterial tortuosity syndrome or Loeys Dietz syndrome apart from bilateral inguinal hernia. He also had skeletal manifestations in the form of fractures in the neonatal period without any trauma during birth and without clinical evidence of Osteogenesis Imperfecta. Read More

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A Nonimmune Hydrops Case.

Neoreviews 2022 04;23(4):e284-e290

Departments of Maternal-Fetal Medicine.

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Exploring management of antenatally diagnosed fetal syphilis infection.

Can Commun Dis Rep 2022 Feb 24;48(2-3):111-114. Epub 2022 Feb 24.

Department of Obstetrics, Gynecology and Reproductive Sciences, Max Rady College of Medicine, University of Manitoba, Winnipeg, MB.

Background: The incidence of syphilis among Canadian women of childbearing age has risen dramatically in the past decade, with a resurgence of infants born with congenital syphilis. While guidelines exist to guide maternal infection during pregnancy, there is little evidence available to guide management in situations where the developing fetus is found to be severely affected.

Case Review: Our patient presented in the second trimester of her pregnancy as syphilis contact. Read More

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February 2022

Extremely Rare Case of Fetal Anemia Due to Mitochondrial Disease Managed with Intrauterine Transfusion.

Medicina (Kaunas) 2022 Feb 22;58(3). Epub 2022 Feb 22.

Department of Obstetrics and Gynecology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul 05505, Korea.

This report describes a rare case of fetal anemia, confirmed as a mitochondrial disease after birth, treated with intrauterine transfusion (IUT). Although mitochondrial diseases have been described in newborns, research on their prenatal features is lacking. A patient was referred to our institution at 32 gestational weeks owing to fetal hydrops. Read More

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February 2022

Long-term efficacy and safety of vestronidase alfa enzyme replacement therapy in pediatric subjects < 5 years with mucopolysaccharidosis VII.

Mol Genet Metab 2022 05 9;136(1):28-37. Epub 2022 Mar 9.

Ultragenyx Pharmaceutical Inc., Novato, CA, USA. Electronic address:

Mucopolysaccharidosis (MPS) VII is an ultra-rare, autosomal-recessive, metabolic disease caused by a deficiency of β-glucuronidase, a lysosomal enzyme that hydrolyzes glycosaminoglycans (GAGs), including dermatan sulfate (DS), chondroitin sulfate, and heparan sulfate (HS). β-glucuronidase deficiency leads to progressive accumulation of undegraded GAGs in lysosomes of affected tissues, which may cause hydrops fetalis, short stature, hepatosplenomegaly, and cognitive impairment. An open-label, multicenter, phase II study was conducted in 8 pediatric subjects <5 years of age with MPS VII. Read More

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Adipose deficiency and aberrant autophagy in a Drosophila model of MPS VII is corrected by pharmacological stimulators of mTOR.

Biochim Biophys Acta Mol Basis Dis 2022 07 19;1868(7):166399. Epub 2022 Mar 19.

Department of Biological Sciences, Indian Institute of Science Education and Research (IISER) Kolkata, Mohanpur, West Bengal, India. Electronic address:

Mucopolysaccharidosis type VII (MPS VII) is a recessively inherited lysosomal storage disorder caused due to β-glucuronidase (β-GUS) enzyme deficiency. Prominent clinical symptoms include hydrops fetalis, musculoskeletal deformities, neurodegeneration and hepatosplenomegaly leading to premature death in most cases. Apart from these, MPS VII is also characterized as adipose storage deficiency disorder although the underlying mechanism of this lean phenotype in the patients or β-GUS-deficient mice still remains a mystery. Read More

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Fetal Intervention for Refractory Supraventricular Tachycardia Complicated by Hydrops Fetalis.

Case Rep Obstet Gynecol 2022 12;2022:5148250. Epub 2022 Mar 12.

University of Texas Health Science Center at San Antonio/University Health System, Department of Obstetrics & Gynecology-Division of Maternal Fetal Medicine, San Antonio, Texas, USA.

. Few reports have shown promising treatments for refractory fetal tachycardia. Data are limited regarding optimal treatment, route of treatment, and medication dosages. Read More

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Gestational Age-Dependent Reference Ranges for Albumin Levels in Cord Serum.

Neonatology 2022 16;119(3):327-333. Epub 2022 Mar 16.

Department of Neonatology, Hyogo Prefectural Kobe Children's Hospital Perinatal Center, Kobe, Japan.

Background: To diagnose hypoalbuminemia in newborns, it is essential to establish a definition applicable to those with a different gestational age (GA) and clinical conditions. A positive correlation between serum albumin levels and GA has been reported, but the study was limited to small numbers of newborns. We therefore investigated the GA-dependent reference ranges for serum albumin levels using cord venous blood (UC-Alb levels) from a large number of newborns delivered at a tertiary perinatal center. Read More

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Alpha- and Beta-thalassemia: Rapid Evidence Review.

Am Fam Physician 2022 03;105(3):272-280

Fort Belvoir Community Hospital, Fort Belvoir, VA, USA.

Thalassemia is a group of autosomal recessive hemoglobinopathies affecting the production of normal alpha- or beta-globin chains that comprise hemoglobin. Ineffective production of alpha- or beta-globin chains may result in ineffective erythropoiesis, premature red blood cell destruction, and anemia. Chronic, severe anemia in patients with thalassemia may result in bone marrow expansion and extramedullary hematopoiesis. Read More

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