Results 41 to 50 of about 750 (161)

Prenatal Detection of Congenital Hemangiopericytoma: Case Report and Systematic Review

Case Reports in Obstetrics and Gynecology, Volume 2026, Issue 1, 2026.
Congenital hemangiopericytoma (HPC) is a rare mesenchymal tumor of perivascular differentiation, characterized by prominent vascularity and heterogeneous clinical behavior in neonates. Prenatal diagnosis, particularly of intracranial lesions, is exceptional and poses significant diagnostic and management challenges.
Antonia Lettieri, Giuliana Orlandi, Olimpia Gabrielli, Luigi Manzo, Laura Letizia Mazzarelli, Giordana Sica, Letizia Di Meglio, Lavinia Di Meglio, Ferdinando Antonio Gulino, Carla Ettore, Giosuè Giordano Incognito, Attilio Tuscano, Maurizio Guida, Giuseppe Ettore, Aniello Di Meglio, Dani Ejzenberg   +15 more
wiley   +1 more source

Non-immune hydrops fetalis in Saudi family secondary to a rare genetic cause

Journal of Biochemical and Clinical Genetics, 2021
Background: Non-immune hydrops fetalis (NIHF) is the abnormal accumulation of serous fluid in more than two fetal or neonatal interstitial spaces due to non-immune causes.
Sawsan Abdullah, Zuhair Rahbeeni
doaj   +1 more source

Hemophagocytic Lymphohistiocytosis Presenting with Nonimmune Hydrops Fetalis [PDF]

Journal of Perinatology, 2004
Hydrops fetalis is a condition of diverse etiologies. An association between hemophagocytic lymphohistiocytosis (HLH) and hydrops fetalis has not been reported in the English literature. We describe an intrauterine case of HLH in an infant who presented with hydrops fetalis at 32 weeks gestation.
Colleen Ann, Malloy, Carol, Polinski, Serhan, Alkan, Ricarchito, Manera, Malliswari, Challapalli   +4 more
openaire   +2 more sources

Genetic disorders and pregnancy outcomes of non-immune hydrops fetalis in a tertiary referral center

BMC Medical Genomics, 2023
Objectives Non-immune hydrops fetalis (NIHF) is a non-specific symptom associated with a wide range of disorders. The prognosis of NIHF depends on the underlying etiology. In this study, we investigated the incidence of chromosomal abnormalities and Bart’
Danhua Guo, Shuqiong He, Na Lin, Yifang Dai, Ying Li, Liangpu Xu, Xiaoqing Wu   +6 more
doaj   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 199, Issue 2, Page 124-133, June 2025.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

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

Case Reports in Pediatrics, 2021
Thoracic empyema usually occurs as a complication of bacterial pneumonia, but in rare cases, it is caused by hematogenous dissemination secondary to nonpulmonary diseases.
Takeru Oikawa, Chiharu Ota, Shinya Iwasawa, Takehiko Onoki, Hideyuki Ikeda, Takushi Hanita   +5 more
doaj   +1 more source

An overview of current prenatal genetic screening and diagnosis guidelines

Pregnancy, Volume 1, Issue 3, May 2025.
Abstract The landscape of prenatal genetics continues to evolve rapidly, with improvements in processing speed and technology. Clinicians are tasked with staying current with the latest recommendations for prenatal genetic screening and diagnosis in order to provide patient‐centered and evidence‐based care. We present a review of 15 societal guidelines
Carmen M. A. Santoli, Sarah K. Dotters‐Katz, Teresa N. Sparks, Jeffrey A. Kuller   +3 more
wiley   +1 more source

Preservative Monitoring of a Greek Woman with Hydrops Fetalis due to Parvovirus B19 Infection

Case Reports in Obstetrics and Gynecology, 2017
Primate erythroparvovirus 1 (parvovirus B19) is a member of the Erythrovirus genus of the Parvoviridae family and it is one of the few members of the family known to be pathogenic in human.
Zacharias Fasoulakis, Panagiotis Antsaklis, Emmanuel N. Kontomanolis   +2 more
doaj   +1 more source

Extracorporeal life support for nonimmune hydrops fetalis. [PDF]

J Pediatr Intensive Care, 2012
A Down syndrome female born at 35 wk estimated gestational age with non-immune hydrops fetalis associated with a complete atrioventricular septal defect and large patent ductus arteriosus with hypoxemia, severe anasarca and hypotension was treated successfully with extracorporeal life support for severe cardiopulmonary failure leading to eventual ...
Witt RG, Raff GW, Gundy JV, Si MS.
europepmc   +4 more sources

C1GALT1C1‐Associated Mosaic Disorder of Glycosylation in a Female

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Cosmc, encoded by the X‐linked C1GALT1C1, is a molecular chaperone in the endoplasmic reticulum and a master regulator of O‐glycosylation of mammalian glycoproteins. Recently, we described a germline mutation in C1GALT1C1 in two male patients, giving rise to a congenital disorder of glycosylation—COSMC‐CDG.
Rajindra P. Aryal, Aditya Ramanujan, Camille Bucci, Christian Neckelmann, Jamie Heimburg‐Molinaro, Sandra F. Cummings, Florian Erger, Bodo B. Beck, Laurie H. Seaver, Richard D. Cummings   +9 more
wiley   +1 more source