3,487 results match your criteria Hydrops Fetalis


Micromapping of Thalassemia and Hemoglobinopathies Among Laos, Khmer, Suay and Yer Ethnic Groups Residing in Lower Northeastern Thailand.

Hemoglobin 2020 Jun 26:1-6. Epub 2020 Jun 26.

Thalassaemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom, Thailand.

Northeastern (NE) Thailand is one of the areas with a prevalence of thalassemias and hemoglobinopathies. Data on the prevalence of the diseases in minorities in the region has been limited. This study aimed to survey the thalassemias and hemoglobinopathies that take into account ethnicity. Read More

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http://dx.doi.org/10.1080/03630269.2020.1780252DOI Listing

Intrathoracic shunt displacement with massive pleural effusion after successful shunt placement in a hydropic fetus with multilocular macrocystic congenital pulmonary airway malformation.

J Clin Ultrasound 2020 Jun 20. Epub 2020 Jun 20.

Department of Obstetrics and Gynecology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

We successfully performed shunting for a fetus with a multilocular macrocystic lung mass with hydrops at 22 weeks' gestation. Complete resolution of hydrops was achieved; however, at 35 weeks' gestation, the fetus developed acute massive pleural effusion. Fetal ultrasound examination revealed that one end of the shunting tube had migrated downward in the thoracic cavity, which led to fluid draining from the lung cyst. Read More

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http://dx.doi.org/10.1002/jcu.22886DOI Listing

Nonimmune Hydrops Fetalis-Prenatal Diagnosis, Genetic Investigation, Outcomes and Literature Review.

J Clin Med 2020 Jun 8;9(6). Epub 2020 Jun 8.

Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, 01-138 Warsaw, Poland.

The aim of this paper is to review the outcomes and discuss the genetic and non-genetic aetiology of nonimmune hydrops fetalis in order to support differential ultrasound and genetic evaluations and family counselling. This single-centre study includes all cases of nonimmune hydrops fetalis diagnosed prenatally from 2009 to 2019. Two sources of data were used for this study (prenatal and neonatal) to compare and summarise the findings. Read More

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http://dx.doi.org/10.3390/jcm9061789DOI Listing

Prenatal sonographic features of fetal mediastinal teratoma.

J Clin Ultrasound 2020 Jun 7. Epub 2020 Jun 7.

Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai University, Thailand.

Mediastinal teratoma can cause severe hydrops fetalis, which worsens the effects of the mass compression on the vital mediastinal organs. A careful sonographic examination is mandatory to demonstrate the characteristic features suggestive of this congenital tumor. We describe these features at 20 weeks gestation. Read More

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http://dx.doi.org/10.1002/jcu.22876DOI Listing

Fetal haemoglobin H-Constant Spring disease: a role for intrauterine management.

Br J Haematol 2020 Jun 2. Epub 2020 Jun 2.

Department of Obstetrics and Gynecology, Chiang Mai, Thailand.

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http://dx.doi.org/10.1111/bjh.16809DOI Listing

Incidental Finding of Hydrops Fetalis in a Full-term Infant.

Neoreviews 2020 Jun;21(6):e421-e424

Division of Neonatology, Columbia University Medical Center, New York, NY.

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http://dx.doi.org/10.1542/neo.21-6-e421DOI Listing

Acute Peritoneal Dialysis in Premature Infants.

Indian Pediatr 2020 May;57(5):420-422

Department of Neonatology, Zeynep Kamil Maternity and Children's Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.

Objective: This study aimed to investigate the underlying causes and outcomes of less than 1500 g birth weight infants who underwent acute peritoneal dialysis (PD).

Methods: Case records of infants with birthweight less than 1500 g from January 2015 to June 2018 were reviewed.

Results: The median (range) birth weight and gestational age of the patients were 720 g (555-1055) and 26 weeks (23-27. Read More

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Management of haemoglobin Barts hydrops fetalis syndrome with exchange transfusions.

Intern Med J 2020 May;50(5):638-639

Medical Therapy Unit, Monash Health, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/imj.14823DOI Listing

STUDY OF AGREEMENT BETWEEN THE ROSSO-MARDONES AND ATALAH SCALES FOR NUTRITIONAL ASSESSMENT IN PREGNANCY. LA ERMITA CLINIC, CARTAGENA, 2017.

Rev Colomb Obstet Ginecol 2020 Mar;71(1):34-41

Médico, Clínica La Ermita de Cartagena, Cartagena, Colombia.

Objective: To assess the degree of agreement between the model for maternal nutritional assessment proposed by Rosso-Mardones and the one proposed by Atalah.

Methods: Diagnostic agreement study. Pregnant women between the ages of 19 and 37 years with a gestational age of 10 or more weeks were incuded; patients with diabetes, thyroid disease, pregnancy-associated hypertension, twin pregnancy, severe fetal malformation, fetal death and hydrops fetalis were excluded. Read More

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http://dx.doi.org/10.18597/rcog.3317DOI Listing

New Insights of Human Parvovirus B19 in Modulating Erythroid Progenitor Cell Differentiation.

Viral Immunol 2020 May 15. Epub 2020 May 15.

Pediatrics Department, Children Digital and Health Data Research Center, Zhongnan Hospital of Wuhan University, Wuhan, China.

Human parvovirus B19 (B19), a human pathogen of the erythroparvovirus genus, is responsible for a variety of diseases. B19 cause less symptoms in healthy individuals, also cause acute and chronic anemia in immunodeficiency patients. Transient aplastic crisis and pure red cell aplasia are two kinds of anemic hemogram, respectively, in acute and chronic B19 infection phase, especially occurring in patients with a shortened red cell survival or with immunodeficiency. Read More

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http://dx.doi.org/10.1089/vim.2020.0013DOI Listing

[A case of neonatal hereditary spherocytosis characterized by hydrops fetalis].

Zhonghua Er Ke Za Zhi 2020 May;58(5):418-420

Department of Pediatrics, Peking University People's Hospital, Beijing 100044, China.

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http://dx.doi.org/10.3760/cma.j.cn112140-20200113-00030DOI Listing

Congenital Syphilis Presenting with Prenatal Bowel Hyperechogenicity and Necrotizing.

Sisli Etfal Hastan Tip Bul 2020 25;54(1):113-116. Epub 2020 Mar 25.

Department of Pediatrics, Division of Neonatology, Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey.

Congenital syphilis is a severe disease that arises from the vertical transmission of Treponema pallidum. Clinical findings are related to the pregnancy stage, fetal gestational week, maternal treatment and fetal immunologic response. Prematurity, low birth weight, nonimmune hydrops fetalis, necrotizing enterecolitis, hepatomegaly, skin eruptions, thrombocytopenia, hemolytic anemia and fever can be detected in the symptomatic newborn. Read More

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http://dx.doi.org/10.14744/SEMB.2018.22605DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7192246PMC

Hydrops fetalis and neonatal abdominal compartment syndrome continuum from immature gastric teratoma: a case report.

BMC Pediatr 2020 Apr 27;20(1):186. Epub 2020 Apr 27.

Philippine General Hospital, Manila, Philippines.

Background: Hydrops fetalis as well as abdominal compartment syndrome (ACS) are conditions that are associated with high mortality rates. A rare case of immature gastric teratoma causing fetal hydrops and subsequent ACS is presented. The related pathophysiologic mechanisms are discussed, and the importance of timely recognition and appropriate interventions are highlighted. Read More

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http://dx.doi.org/10.1186/s12887-020-02090-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7184682PMC

Nonimmune hydrops fetalis: Genetic analysis and clinical outcome.

Prenat Diagn 2020 Jun 3;40(7):803-812. Epub 2020 May 3.

Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.

Objective: To investigate the genetic causes and clinical outcomes of nonimmune hydrops fetalis (NIHF).

Methods: 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). Read More

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http://dx.doi.org/10.1002/pd.5691DOI Listing

Non-progressive Nonimmune Hydrops Fetalis Caused by a Novel Mutation in Gene.

Iran J Child Neurol 2020 ;14(2):101-106

Department of Pediatric Endocrinology and Metabolic diseases, Mofid children hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Mucopolysaccharidosis type VII (MPS VII) or Sly syndrome is a rare autosomal recessive disorder caused by deficiency of β-glucuronidase enzyme, which is involved in degradation of glycosaminoglycans. The lack of β-glucuronidase in this lysosomal storage disorder is characterized by various manifestations such as nonimmune hydrops fetalis, spinal deformity, organomegaly, dysostosis multiplex, intellectual disability, and eye involvement. It is caused by a mutation in gene located on chromosome 7 q11. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7085123PMC
January 2020

Congenital infections in Hong Kong: an overview of TORCH.

Hong Kong Med J 2020 Apr 2;26(2):127-138. Epub 2020 Apr 2.

Department of Paediatrics and Adolescent Medicine, The Hong Kong Children's Hospital, Kowloon Bay, Hong Kong.

Congenital infections refer to a group of perinatal infections that may have similar clinical presentations, including rash and ocular findings. TORCH is the acronym that covers these infections (toxoplasmosis, other [syphilis], rubella, cytomegalovirus, herpes simplex virus). There are, however, other important causes of intrauterine/perinatal infections, including enteroviruses, varicella zoster virus, Zika virus, and parvovirus B19. Read More

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http://dx.doi.org/10.12809/hkmj198287DOI Listing

Clinical characteristics and neonatal outcomes of liveborn newborns with hydrops fetalis treated in a tertiary level neonatal intensive care unit.

Birth Defects Res 2020 Apr;112(6):515-522

Department of Neonatology, Necmettin Erbakan University, Meram Medical Faculty, Konya, Turkey.

Background: This study was performed for examining the neonatal results and aetiological factors of neonates with hydrops fetalis (HF) and determining the factors affecting mortality.

Methods: The medical records of liveborn neonates with HF who were admitted to a tertiary Neonatal Intensive Care Unit (NICU) in Konya, Turkey, between 2013 and 2019 were reviewed retrospectively. The demographic data, prenatal intervention, clinical findings, and results of the patients were recorded. Read More

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http://dx.doi.org/10.1002/bdr2.1640DOI Listing

Prenatal Treatment of Congenital Cytomegalovirus with Valganciclovir: a Case Report.

Clin Infect Dis 2020 Mar 21. Epub 2020 Mar 21.

Department of Obstetrics and Gynecology, Duke University, Durham, NC.

Cytomegalovirus is the most common congenital infection and infectious cause of fetal anomaly and neurologic injury. However, treatment strategies for congenital CMV (cCMV) infection during pregnancy remain elusive. We report a case of hydrops fetalis secondary to cCMV infection with minimal sequelae after maternal and subsequent neonatal treatment with valganciclovir. Read More

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http://dx.doi.org/10.1093/cid/ciaa305DOI Listing

Non-immune hydrops fetalis was rare in Sweden during 1997-2015, but cases were associated with complications and poor prognosis.

Acta Paediatr 2020 Mar 18. Epub 2020 Mar 18.

Department of Obstetrics and Gynecology, Clinical Sciences Lund, Lund University, Lund, Sweden.

Aim: The study was designed to document the incidence of non-immune hydrops fetalis (NIHF) at birth and characterise associated outcomes and obstetric complications.

Methods: Data on more than 1.9 million births were extracted from the Swedish Birth Register for 1997-2015. Read More

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http://dx.doi.org/10.1111/apa.15260DOI Listing

Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia.

Mol Genet Genomic Med 2020 May 7;8(5):e1174. Epub 2020 Mar 7.

Neonatology, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.

Background: Nonimmune hydrops fetalis (NIHF) is still a challenging diagnosis. The differential diagnosis is extensive and the success of identifying a cause depends on the thoroughness of efforts to establish a diagnosis. For the early diagnosis of NIHF, a virtual gene panel diagnostic tool was developed. Read More

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http://dx.doi.org/10.1002/mgg3.1174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216795PMC

Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study.

Prenat Diagn 2020 May 20;40(6):738-745. Epub 2020 Mar 20.

Lysosomal Diseases Testing Laboratory, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

Objectives: Nonimmune hydrops fetalis (NIHF) accounts for 90% of hydrops fetalis 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. Read More

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http://dx.doi.org/10.1002/pd.5678DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7260084PMC

[Clinical practice guidelines for alpha-thalassemia].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Mar;37(3):235-242

Department of Medical Genetics, School of Basic Medicine, Southern Medical University, Guangzhou 510515, China.

Alpha-thalassemia is an autosomal recessive genetic disease as well as a relatively common hemoglobinopathy. Severe alpha-thalassemia (also known as Hb Bart's Hydrops fetalis syndrome) and intermediate alpha-thalassemia (also known as Hb H disease) are among the most common birth defects in southern China. To implement carrier screening and large population prevention program in high incidence areas can significantly reduce the incidence of alpha-thalassemia. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.03.003DOI Listing

Mechanosensitive Piezo1 ion channel protein (PIEZO1 gene): update and extended mutation analysis of hereditary xerocytosis in India.

Ann Hematol 2020 Apr 28;99(4):715-727. Epub 2020 Feb 28.

Department of Hematogenetics, ICMR-National Institute of Immunohematology, KEM Hospital Campus, Parel, Mumbai, 40012, India.

Hereditary xerocytosis (HX), also known as dehydrated stomatocytosis (DHSt) is a dominantly inherited genetic disorder exhibiting red cell membrane dehydration caused by the loss of the monovalent cation K and water. Variants in mechanosensitive Piezo ionic channels of the PIEZO1 gene are the primary cause of HX. We have utilized high throughput and highly precise next-generation sequencing (NGS) to make a diagnosis and examine the genotype-phenotype relationship in inflexible HX cases. Read More

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http://dx.doi.org/10.1007/s00277-020-03955-1DOI Listing

Low mortality in fetal supraventricular tachycardia: Outcomes in a 30-year single-institution experience.

J Cardiovasc Electrophysiol 2020 May 4;31(5):1105-1113. Epub 2020 Mar 4.

Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts.

Objectives: To describe a single institutional experience managing fetuses with supraventricular tachycardia (SVT) and to identify associations between patient characteristics and fetal and postnatal outcomes.

Background: Sustained fetal SVT is associated with significant morbidity and mortality if untreated, yet the optimal management strategy remains unclear.

Methods: Retrospective cohort study including fetuses diagnosed with sustained SVT (>50% of the diagnostic echocardiogram) between 1985 and 2018. Read More

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http://dx.doi.org/10.1111/jce.14406DOI Listing

Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.

BMC Med Genet 2020 02 19;21(1):37. Epub 2020 Feb 19.

Unidade de Genética do Instituto da Criança - Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Av. Dr. Enéas Carvalho de Aguiar, 647, São Paulo, CEP 05403-000, Brazil.

Background: The Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome (OMIM 253200) is an autosomal recessive lysosomal disorder, caused by the deficiency of the enzyme N-acetylgalactosamine 4-sulfatase (also known as arylsulfatase B) due to mutations of the ARSB gene. Cardiologic features are well recognized, and are always present in MPS VI patients. Generally, the onset and the progression of the cardiologic symptoms are insidious, and just a few patients have developed a rapidly progressive disease. Read More

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http://dx.doi.org/10.1186/s12881-020-0972-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7031867PMC
February 2020

Fetal arrhythmias: prenatal evaluation and intrauterine therapeutics.

Ital J Pediatr 2020 Feb 12;46(1):21. Epub 2020 Feb 12.

Department of Cardiothoracic Surgery, The First Hospital of Putian, Teaching Hospital, Fujian Medical University, 389 Longdejing Street, Chengxiang District, Putian, 351100, Fujian Province, People's Republic of China.

Introduction: Fetal arrhythmias are a common phenomenon with rather complicated etiologies. Debates remain regarding prenatal diagnosis and treatment of fetal arrhythmias.

Methods: The literature reporting on prenatal diagnosis and treatment of fetal arrhythmias published in the recent two decades were retrieved, collected and analyzed. Read More

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http://dx.doi.org/10.1186/s13052-020-0785-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7017517PMC
February 2020

Bilateral chest wall mesenchymal hamartomas masquerading as fetal hydrops in utero.

Arch Dis Child Fetal Neonatal Ed 2020 May 10;105(3):303. Epub 2020 Feb 10.

Neonatal Intensive Care Unit, Royal Jubilee Maternity Service, Belfast, Belfast, UK.

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http://dx.doi.org/10.1136/archdischild-2019-318649DOI Listing

Nonimmune Hydrops Fetalis.

Clin Perinatol 2020 Mar 7;47(1):105-121. Epub 2019 Oct 7.

Department of Pediatrics, Medical College of Wisconsin, 999 North 92nd Street, Suite C410, Wauwatosa, WI 53226, USA. Electronic address:

Nonimmune hydrops fetalis (NIHF) historically has been considered a lethal fetal condition. Understanding NIHF to be a symptom or an end-stage status of a variety of fetal conditions, along with improved fetal diagnostics and interventions, has changed the landscape for at least some fetuses. Understanding the pathophysiologic mechanisms has led to the development of diagnostic algorithms, improved understanding of cause, and therefore fetal or neonatal treatments. Read More

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http://dx.doi.org/10.1016/j.clp.2019.10.001DOI Listing

Utility of chromosomal microarray for diagnosis in cases of nonimmune hydrops fetalis.

Prenat Diagn 2020 03 11;40(4):492-496. Epub 2020 Feb 11.

Division of Maternal Fetal Medicine, University of California, San Francisco, San Francisco, California, USA.

Purpose: 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 hydrops fetalis (NIHF) specifically is not well known. Our objective was to describe the overall yield of CMA in the diagnostic evaluation of NIHF, comparing isolated cases to those with concurrent structural anomalies. Read More

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http://dx.doi.org/10.1002/pd.5617DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7153803PMC

Isolated fetal ascites.

Ceska Gynekol 2019 ;84(6):435-438

Objective: We present a rather rare case of isolated fetal ascites. We summarize its possible causes and diferential diagnostic procedure, our pregnancy managment and final outcome of the child.

Study Design: Case report. Read More

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January 2020

Characterization and identification of Hb Bart's hydrops fetalis caused by a compound heterozygous mutation -- /-- , a novel α -thalassemia deletion.

Int J Lab Hematol 2020 06 13;42(3):e116-e120. Epub 2020 Jan 13.

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

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http://dx.doi.org/10.1111/ijlh.13154DOI Listing
June 2020
1.870 Impact Factor

Non-immune Hydrops Fetalis and Hepatic Dysfunction in a Preterm Infant With Congenital Syphilis.

Front Pediatr 2019 11;7:508. Epub 2019 Dec 11.

Division of Neonatology, The Hospital for Sick Children, Toronto, ON, Canada.

We report a case of a preterm infant with congenital syphilis who presented with non-immune hydrops fetalis. Hepatic dysfunction was present at birth and acutely worsened following antibiotic administration. Placental pathology demonstrated infiltration with numerous spirochetes. Read More

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http://dx.doi.org/10.3389/fped.2019.00508DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927290PMC
December 2019

Multiple Chorangioma Following Long-Term Secondary Infertility: A Rare Case Report and Review of Pathologic Differential Diagnosis.

Int Med Case Rep J 2019 19;12:383-387. Epub 2019 Dec 19.

Department of Pathology, Shiraz University of Medical Sciences, Shiraz, Iran.

Chorangioma (placental hemangioma) is a benign non-trophoblastic neoplasm of the placenta. Small chorangiomas are usually asymptomatic, but the giant and multiple ones rarely have a favorable outcome. We report a case of 29 weeks of gestational age (after long-term secondary infertility) with premature labor pain and undiagnosed multiple chorangioma leading to hydrops fetalis and neonatal death. Read More

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http://dx.doi.org/10.2147/IMCRJ.S227947DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927595PMC
December 2019

[Prognosis of fetuses with cystichygroma and nuchal translucency/nuchal fold thickening on prenatal echography].

Zhejiang Da Xue Xue Bao Yi Xue Ban 2019 Jun;48(4):434-438

Department of Obstetrics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China.

Objective: To analyze the prognosis of fetuses with cystic hygroma (CH) or nuchal translucency (NT) or nuchal fold (NF) thickening detected by prenatal echography.

Methods: From January 2014 to December 2015, 124 fetuses with CH and NT/NF thickening on prenatal echography were enrolled from Women's Hospital of Zhejiang University School of Medicine. The basic clinical information, ultrasonic results, pregnancy outcomes and newborn follow-ups were analyzed. Read More

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Congenital chylothorax: Current evidence-based prenatal and post-natal diagnosis and management.

Lymphology 2019 ;52(3):108-125

Department Mother & Child, Neonatal Intensive Care Unit, IRCCS Istituto Gaslini, Genova, Italy.

Congenital chylothorax is an uncommon condition but represents the main cause of congenital pleural effusion during the neonatal period. It usually appears before birth, both as an isolated disorder or in association with hydrops fetalis, negatively affecting the subsequent neonatal outcome. Prenatal treatment is usually considered to ensure a satisfactory lung development in case of moderate to severe pleural effusion or in the presence of hydrops, although consensus on treatment timing and modalities has not been reached to date. Read More

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January 2019

A Rare Case of Fetal Meconium Peritonitis Developing Coagulopathy .

J Med Ultrasound 2019 Oct-Dec;27(4):205-207. Epub 2019 Aug 7.

Department of Obstetrics and Gynecology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

Hydrops fetalis in association with meconium peritonitis is a rare condition, and the mechanism underlying hydropic changes has not been fully recognized. We present a case of fetal meconium peritonitis with hydrops and coagulopathy. Clinically, the cause of fetal disseminated intravascular coagulation is considered to be a consequence of a systematic inflammatory response based on progressive, but mild fetal anemia without other apparent triggers, thrombocytopenia, elevated white blood cell count and serum C reactive-protein, hypoalbuminemia, and increased vascular permeability. Read More

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http://dx.doi.org/10.4103/JMU.JMU_25_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6905251PMC

Genetic Burden and Outcome of Cystic Hygromas Detected Antenatally: Results of 93 Pregnancies from a Single Center in the Northern Region of Turkey.

J Med Ultrasound 2019 Oct-Dec;27(4):181-186. Epub 2019 Apr 10.

Department of Gynecology-Obstetrics, Ondokuz Mayis University Medical Faculty, Samsun, Turkey.

Objective: Genetic burden, fetal malformations, and fetal outcomes of 93 fetuses with cystic hygroma (CH) are reported from a single center in Turkey.

Patients And Methods: Pregnancies, having a diagnosis of fetal CH, detected between January 2010 and October 2016, were included in the study except fetuses having increased nuchal translucency. Fetal age/gender, maternal age, the age of pregnancy, types of fetal malformations, karyotype, and outcomes were evaluated. Read More

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http://dx.doi.org/10.4103/JMU.JMU_114_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6905260PMC

Fetal mediastinal teratoma: Misinterpretation as congenital cystic lesions of the lung on prenatal ultrasound.

J Clin Ultrasound 2020 Jun 20;48(5):287-290. Epub 2019 Dec 20.

University of Tunis El Manar, Tunis, Tunisia.

Congenital mediastinal teratoma can lead to development of hydrops fetalis and may be misinterpreted on ultrasound. In this case report, ultrasound revealed severe fetoplacental hydrops, moderate posthemorrhagic hydrocephalus, and multiple pulmonary cysts suggesting cystic adenomatoid malformation and displacement of the heart to the left side. Autopsy of the hydropic 24-weeks male fetus showed a large cystic-solid mediastinal mass that was consistent with nonmetastatic immature teratoma. Read More

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http://dx.doi.org/10.1002/jcu.22808DOI Listing

Electrophoresis features and genotypes of Hb bart's hydrops fetalis.

Scand J Clin Lab Invest 2020 Feb - Apr;80(2):129-132. Epub 2019 Dec 14.

Center of Prenatal Diagnostic, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.

Hydrops fetalis syndrome (Hb Bart's disease) is one of the common fetal development abnormalities and the most severe form of α-thalassemia. It causes fetal death during the third trimester or shortly after birth. The aim of this study is to investigate the feature of Hb Bart's disease by Capillary electrophoresis (CE) and its genotypes. Read More

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http://dx.doi.org/10.1080/00365513.2019.1703211DOI Listing
December 2019

Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature.

Mol Cytogenet 2019 9;12:49. Epub 2019 Dec 9.

1Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Guangxi Birth Defects Prevention and Control Institute, No.59, Xiangzhu Road, Nanning, China.

Background: Cri-du-chat syndrome (CdCS; OMIM#123450) is a classic contiguous gene syndrome caused by chromosome 5p terminal deletion (5p-), which characterized by a high-pitched cat-like cry, developmental delay, severe psychomotor, mental retardation, and dysmorphic features in infancy. Prenatal diagnosis of CdCS is difficult due to the non-specific ultrasound features. And reports using array analysis are rare. Read More

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http://dx.doi.org/10.1186/s13039-019-0462-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6902614PMC
December 2019
2.662 Impact Factor

Clinical outcome of prenatally suspected cardiac rhabdomyomas of the fetus.

J Perinat Med 2019 Dec;48(1):74-81

Department of Obstetrics, Charité - Universitätsmedizin Berlin, Berlin, Germany.

Background The main objective of this retrospective analysis in a large tertiary center was the clinical outcome of prenatally diagnosed cardiac rhabdomyomas as well as the identification of factors influencing fetal prognosis. Methods A total of 45 cases of fetuses with prenatally suspected rhabdomyoma and their clinical outcome were analyzed retrospectively. A review of the literature was also performed. Read More

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http://dx.doi.org/10.1515/jpm-2019-0246DOI Listing
December 2019

Meconium Peritonitis: A Rare Treatable Cause of Non-Immune Hydrops.

Pediatr Gastroenterol Hepatol Nutr 2019 Nov 7;22(6):576-580. Epub 2019 Nov 7.

Department of Neonatology, Sri Ramachandra Institute of Medical Sciences, Porur, Chennai, India.

Meconium peritonitis as a cause of non-immune hydrops in neonates is rarely reported. Here we report such a rare occurrence. In our case, a routine antenatal scan at 25 weeks revealed isolated ascites. Read More

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http://dx.doi.org/10.5223/pghn.2019.22.6.576DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856499PMC
November 2019
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Outcome of Pregnancies Diagnosed with TRAP Sequence Prenatally: A Single-Centre Experience.

Fetal Diagn Ther 2020 26;47(4):301-306. Epub 2019 Nov 26.

Department of Fetal Medicine, Bangalore Fetal Medicine Centre, Bangalore, India,

Introduction: Twin reversed arterial perfusion (TRAP) sequence is a phenomenon seen in 1-3% of monochorionic twin pregnancies, where the acardiac fetus is found to have multiple anomalies. The normal pump twin maintains its own perfusion in addition to that of its acardiac co-twin. As a result, if the acardiac twin increases in size, the burden on the pump twin is increased, leading to cardiac failure, hydrops fetalis, polyhydramnios, premature delivery, and perinatal death. Read More

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http://dx.doi.org/10.1159/000503389DOI Listing
November 2019

Hydrops fetalis caused by congenital syphilis: An ancient disease?

Int J STD AIDS 2019 12 19;30(14):1436-1439. Epub 2019 Nov 19.

Neonatology Department, Hospital Clínic, BCNatal | Barcelona - Centro de Medicina Materno fetal y Neonatal, Hospital Clínic y Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1177/0956462419876487DOI Listing
December 2019

Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway.

Am J Hematol 2020 02 9;95(2):188-197. Epub 2019 Dec 9.

Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli 'Federico II', Naples, Italy.

Dehydrated hereditary stomatocytosis (DHS), or xerocytosis, is an autosomal dominant hemolytic anemia. Most patients with DHS carry mutations in the PIEZO1 gene encoding a mechanosensitive cation channel. We here demonstrate that patients with DHS have low levels of hepcidin and only a slight increase of ERFE, the erythroid negative regulator of hepcidin. Read More

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http://dx.doi.org/10.1002/ajh.25683DOI Listing
February 2020

Corrigendum: The Spectrum of -Associated Hereditary Spherocytosis.

Front Physiol 2019;10:1331. Epub 2019 Oct 18.

Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States.

[This corrects the article DOI: 10.3389/fphys.2019. Read More

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http://dx.doi.org/10.3389/fphys.2019.01331DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6843059PMC
October 2019

Prenatally Diagnosed Congenital Ventricular Outpouchings: An Institutional Experience and Review of the Literature.

Pediatr Cardiol 2020 Feb 14;41(2):272-281. Epub 2019 Nov 14.

Thomas P. Graham Jr. Division of Pediatric Cardiology, Monroe Carell Jr. Children's Hospital at Vanderbilt, 2200 Children's Way, Suite 5230, Nashville, TN, 37232, USA.

Congenital ventricular outpouchings (CVOs) are rare congenital heart defects with limited data regarding prognosis and outcomes. We aimed to describe the characteristics, outcomes and factors associated with morbidity and mortality of prenatally diagnosed CVOs using our institutional experience and a review of published cases. A total of 86 cases of prenatally diagnosed CVOs were identified, including 3 from our institution and 83 cases identified from a review of the literature. Read More

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http://dx.doi.org/10.1007/s00246-019-02252-7DOI Listing
February 2020

Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII - a European caregiver survey.

Orphanet J Rare Dis 2019 11 14;14(1):254. Epub 2019 Nov 14.

MPS LH Derneği, Hakimiyeti Milliye cad, No: 58 Vedat Kadri Kancal iş merkezi 46/A, Űskűdar, Istanbul, Turkey.

Background: Mucopolysaccharidosis type VII (Sly disease, MPS VII), is an ultra-rare, multi-symptom disease with variable clinical presentations which can present challenges with diagnosis, management and care. We believe this survey is the first to explore the patient experience through direct questioning of the caregivers of 13 individuals with MPS VII.

Methods: This European survey, using a specifically designed questionnaire, was conducted in order to describe the pathway to diagnosis and the burden of illness of MPS VII. Read More

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http://dx.doi.org/10.1186/s13023-019-1233-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6854616PMC
November 2019

INI1 negative sarcoma diagnosed as malignant rhabdoid tumor presenting as hydrops fetalis metastatic to the placenta: a case report and review of the literature on congenital sarcomas.

J Matern Fetal Neonatal Med 2019 Nov 12:1-4. Epub 2019 Nov 12.

Pathology Service, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.

Rhabdoid tumor is a highly aggressive sarcoma found in young children that occurs in the kidney, central nervous system and soft tissue sites. Rarely, it presents in the fetus or neonate and is associated with a dismal prognosis. We report a case of a 28-week gestation fetus presenting with hydrops fetalis who died soon after delivery, found at autopsy to have a rhabdoid tumor of the thoracic cavity with placental metastases and provide a review of the literature of congenital sarcomas. Read More

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http://dx.doi.org/10.1080/14767058.2019.1688782DOI Listing
November 2019