ReviewOrphanet journal of rare diseases2012
Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature.
Review in Orphanet journal of rare diseases, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03911531 (Whole Exome Sequencing and Whole Genome Sequencing for Nonimmune Fetal/Neonatal Hydrops), which is not on this map. Cited by 18 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Whole Exome Sequencing and Whole Genome Sequencing for Nonimmune Fetal/Neonatal Hydrops
Who cites it
18 citing papers in PubMed, 57 citations in OpenAlex.
- Society for Maternal-Fetal Medicine Consult Series #75: Evaluation and management of non-immune hydrops fetalis.Pregnancy (Hoboken, N.J.) · 2026Article
- A Neonate with Mucopolysaccharidosis Type VII with Intractable Ascites.AJP reports · 2023Article
- Ascites in infantile onset type II Sialidosis.JIMD reports · 2022Article
- Characterization of pregnancy outcome of women with an offspring with inborn errors of metabolism: A population-based study.Frontiers in genetics · 2022Article
- Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.Human mutation · 2021Review
- Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study.Prenatal diagnosis · 2020Article
- Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.BMC medical genetics · 2020Article
- Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.JIMD reports · 2019Article
- Nonimmune hydrops fetalis: identifying the underlying genetic etiology.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Non-Immune Hydrops Fetalis: Do Placentomegaly and Polyhydramnios Matter?Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine · 2018Article
- Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders.Journal of inherited metabolic disease · 2018Review
- Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.Prenatal diagnosis · 2017Article
- Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience.JIMD reports · 2017Article
- Metabolic Liver Disease: When to Suspect and How to Diagnose?Indian journal of pediatrics · 2016Review
- Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.Journal of inherited metabolic disease · 2016Review
- Clinical course of sly syndrome (mucopolysaccharidosis type VII).Journal of medical genetics · 2016Article
- Niemann-Pick disease type C symptomatology: an expert-based clinical description.Orphanet journal of rare diseases · 2013Review
- Nonimmune hydrops fetalis diagnosed at 35 weeks gestation - a case report.Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologieArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLysosomal storage disorders (LSD) are a rare cause of non immunological hydrops fetalis (NIHF) and congenital ascites. The reported incidence is about 1%. The incidence of idiopathic NIHF is estimated to be about 18%. PATIENTS AND
methodsWe report four cases with transient hydrops fetalis resulting from LSD and performed a literature review on LSD with NIHF and congenital ascites in combination.
resultsAt present, 12 different LSDs are described to be associated with NIHF or congenital ascites. Most patients had a family history of NIHF, where the preceding sibling had not been examined. A diagnostic approach to the fetus with NIHF due to suspected LSD either in utero or postnatal is suggested. Transient forms of NIHF and/or ascites in association with MPS IVA, MPS VII and NPC are described for the first time in this publication.
conclusionsLSD should be considered in transient hydrops. Enzymatic studies in chorionic villous sample or amniotic cultured cells, once the most common conditions associated with fetal ascites or hydrops have been ruled out, are important. This paper emphasizes the fact that LSD is significantly higher than the estimated 1% in previous studies, which is important for genetic counseling as there is a high risk of recurrence and the availability of enzyme replacement therapy for an increasing number of LSD.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.