A de novo homozygous missense mutation of the GUSB gene leads to mucopolysaccharidosis type VII identification in a family with twice adverse pregnancy outcomes due to non-immune hydrops fetalis [PDF]
Molecular Genetics and Metabolism ReportsNon-immune hydrops fetalis (NIHF) is a common and severe manifestation of many genetic disorders. The ultrasound is an ideal method for diagnosing hydrops fetalis during pregnancy.
Runxuan Du +6 more
doaj +2 more sources
Accessory diaphragm associated with non-immune hydrops fetalis. [PDF]
BMJ Case Rep, 2014 An accessory diaphragm, also known as diaphragmatic duplication, is a congenital anomaly in which there is a fibromuscular membrane on top of the normally formed diaphragm dividing the hemithorax into two compartments trapping part of the pulmonary parenchyma.
Priyadarshi A +3 more
europepmc +4 more sources
Non-immune Hydrops Fetalis and Hepatic Dysfunction in a Preterm Infant With Congenital Syphilis [PDF]
Frontiers in Pediatrics, 2019 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.
Jessica Duby +11 more
doaj +2 more sources
Society for Maternal‐Fetal Medicine Consult Series #75: Evaluation and management of non‐immune hydrops fetalis [PDF]
PregnancyNon‐immune hydrops fetalis (NIHF) can result from a multitude of underlying causes, such as fetal genetic diseases, congenital anomalies, infections, fetal arrhythmias, placental tumors, monochorionic twin complications, and other disorders.
Society for Maternal‐Fetal Medicine (SMFM) +3 more
doaj +2 more sources
Impaired lymphatic drainage in a child with hydrops fetalis and a novel variant in the PROX1 gene: case report and review of literature [PDF]
Frontiers in Cardiovascular MedicinePROX1 is a gene that encodes a protein that may play a key role in the development of the lymphatic system. This report describes impaired lymphatic drainage, with non-immune hydrops fetalis, congenital bilateral chylothorax, chylous ascites, and the ...
Domenico Umberto De Rose +16 more
doaj +2 more sources
Mirror Syndrome (Ballantyne Syndrome): Prenatal Diagnosis, Pathophysiology, and the Role of Fetal Therapy-A Narrative Review. [PDF]
Prenat DiagnABSTRACT Mirror syndrome is a rare maternal–fetal condition associated with fetal hydrops and a high risk of adverse maternal and fetal perinatal outcomes. Its diagnosis is challenging due to the lack of standardized diagnostic criteria and its clinical and biochemical overlap with preeclampsia.
Tudisco R +5 more
europepmc +2 more sources
Integrating Gaucher disease (GD) into mainstream hematological curriculum training. [PDF]
HemasphereHemaSphere, Volume 10, Issue 10, October 2026.
Bradley C +3 more
europepmc +2 more sources
Non-Immune Hydrops Fetalis: Do Placentomegaly and Polyhydramnios Matter? [PDF]
J Ultrasound Med, 2018 ObjectivesPolyhydramnios and placentomegaly are commonly observed in nonimmune hydrops fetalis (NIHF); however, whether their ultrasonographic identification is relevant for prognosis is controversial. We evaluated outcomes of fetal or neonatal death and preterm birth (PTB) in cases of NIHF alone and in those with polyhydramnios and/or placentomegaly ...
Berger VK +7 more
europepmc +4 more sources
Analysis of Non-Immune Hyrops Fetalis: Evaluation of 15 Cases
Gynecology Obstetrics & Reproductive Medicine, 2012 OBJECTIVES: To evaluation the ultrasound characteristics, etiological factors and perinatal outcome in hydrops fetalis. STUDY DESIGN: A total of 15 hydrops fetalis presented in our perinatology unit, were studied prospectively.
Turhan Aran +2 more
doaj +1 more source
Diagnostic yield using whole-genome sequencing and in-silico panel of 281 genes associated with non-immune hydrops fetalis in clinical setting [PDF]
Ultrasound in Obstetrics and Gynecology, 2022 Erik Iwarsson +2 more
exaly +2 more sources