Results 1 to 10 of about 700 (122)

A Novel Case of NOTCH1 Variant and Nonimmune Hydrops Fetalis: A Case Report [PDF]

Case Reports in Genetics
Nonimmune hydrops fetalis (NIHF) refers to the pathologic accumulation of fluid within the fetus due to causes other than red cell alloimmunization and now accounts for up to 90% of fetal hydrops cases.
Genevieve R. Mazza, Alesandra R. Rau, Madushka Y. De Zoysa   +2 more
doaj   +3 more sources

Complete Resolution of Nonimmune Hydrops Fetalis Secondary to Maternal Syphilis Infection [PDF]

American Journal of Perinatology Reports, 2023
Maternal syphilis infection is a common infectious cause of nonimmune hydrops fetalis. Generally, hydrops fetalis is equated with poor prognoses in affected pregnancies.
Andreea Dinicu, Patrick Penalosa, Brian A. Crosland, Jonathan Steller   +3 more
doaj   +2 more sources

Case Report: Whole Exome Sequencing Revealed Two Novel Mutations of PIEZO1 Implicated in Nonimmune Hydrops Fetalis [PDF]

Frontiers in Genetics, 2021
Nonimmune hydrops fetalis (NIHF) is a serious and complex fetal condition. Prenatal diagnosis of hydrops fetalis is not difficult by ultrasound. However, determining the underlying etiology of NIHF remains a challenge which is essential to address for ...
Yuan Chen, Ying Jiang, Bangwu Chen, Yeqing Qian, Jiao Liu, Mengmeng Yang, Baihui Zhao, Qiong Luo   +7 more
doaj   +2 more sources

A Case of Nonimmune Hydrops Fetalis With a Duct-Dependent Systemic Circulation and a Novel Mutation of Kabuki Syndrome. [PDF]

Case Rep Genet
Introduction Nonimmune hydrops fetalis (NIHF) has numerous etiologies, the most common of which are cardiac anomalies and fetal infection. However, genetic disorders are also being increasingly recognized as a cause of NIHF. Here, we report a case of a neonate presenting with polyhydramnios, NIHF, structural heart disease, and diaphragmatic defect who ...
Prasad R, Sahoo S, Dalai R, Pathak KK, Chowdhary BK.   +4 more
europepmc   +2 more sources

Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis [PDF]

Case Reports in Women's Health, 2017
Background: Hereditary spherocytosis is the most common form of inherited hemolytic anemia and is characterized by a structural defect in the RBC membrane.
Dawn M. Hannah, Terry B. Tressler, Claudia D. Taboada   +2 more
doaj   +2 more sources

A Case of Nonimmune Hydrops Fetalis Caused by Homozygous α-Thalassemia [PDF]

Turkish Journal of Hematology, 2013
Hydrops fetalis is a serious condition which indicates poor prognosis for the affected fetus. Although the incidence of isoimmune hydrops fetalis has decreased markedly, nonimmune hydrops fetalis cases have been more frequently reported.
Melek Akar, Dilek Dilli, Uğur Dilmen
doaj   +2 more sources

Thoracic Ganglioneuromas Resulting in Nonimmune Hydrops Fetalis [PDF]

American Journal of Perinatology Reports, 2014
Introduction Most often, ganglioneuromas affect older pediatric and adult patients. They are typically slow growing tumors that remain clinically silent until they become large enough to cause symptoms by compression of adjacent structures ...
Paul Singh, Cristiano Jodicke, Tara Swanson, Dev Maulik   +3 more
doaj   +2 more sources

Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing [PDF]

Orphanet Journal of Rare Diseases
Lysosomal storage disorders (LSD) are a group of inherited metabolic diseases that contribute to nonimmune hydrops fetalis (NIHF). Our objective was to review the pooled exome sequencing (ES) diagnostic yield of LSD in NIHF cases.
Mona M. Makhamreh, Kavya Shivashankar, Stephanie M. Rice, Sascha Wodoslawsky, Christina Grant, Rodney McLaren, Seth I. Berger, Huda B. Al-Kouatly   +7 more
doaj   +2 more sources

Primary Hyperparathyroidism in a Pregnant Immigrant Facing Healthcare Hurdles: A Case Report. [PDF]

Case Rep Obstet Gynecol
Introduction PHPT in pregnancy is a rare condition that may be difficult to recognize due to nonspecific symptoms and physiologic changes that can mask hypercalcemia. Delayed diagnosis is associated with significant maternal and fetal morbidity. Case Presentation A 36‐year‐old Spanish‐speaking gravida 5 para 3 woman at 30 weeks gestation presented with
McCrary R, Huang T, Worley M, Daugherty R, Stisher A.   +4 more
europepmc   +2 more sources

Cyclic Fevers in Pregnancy: A Case of Parvovirus-Related Hemophagocytic Lymphohistiocytosis. [PDF]

Case Rep Obstet Gynecol
Parvovirus B19 typically causes mild symptoms in healthy adults, including fever, rash, and arthralgias. Certain immunocompromised adult populations, including those with immunodeficiencies or hematologic disease, are at risk of clinically significant complications, including transient aplastic crisis.
Rich DJ, Pollie MP, Barbera JP, Stone JS, Hirshberg A.   +4 more
europepmc   +2 more sources