ArticlePrenatal diagnosis2020
Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study.
Article in Prenatal diagnosis, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 3 of them syntheses that pooled it.
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Who cites it
16 citing papers in PubMed, 3 syntheses or guidelines pooled it, 31 citations in OpenAlex.
- Natural history and prognostic significance of fetal choroid plexus cysts: a systematic review.BMC pregnancy and childbirth · 2026Pooled it
- Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review.Clinical genetics · 2021Pooled it
- Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review.Journal of inherited metabolic disease · 2020Pooled it
- Fetal Hepatosplenomegaly: Stepwise Diagnostic Framework, Diagnostic Approach to Fetal Hepatosplenomegaly.Journal of clinical medicine · 2026Review
- Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?JIMD reports · 2026Article
- A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review.Molecular genetics and metabolism reports · 2025Review
- Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing.Orphanet journal of rare diseases · 2025Review
- AMolecular genetics and metabolism reports · 2024Article
- Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects.Prenatal diagnosis · 2023Review
- Isolated non-immune hydrops fetalis: an observational study on complete spontaneous resolution, perinatal outcome, and long-term follow-up.Archives of gynecology and obstetrics · 2023Observational
- [Free sialic acid storage disorders with fetal hydrops in a neonate].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Article
- Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome).Therapeutics and clinical risk management · 2022Review
- High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Free sialic acid storage disorder: Progress and promise.Neuroscience letters · 2021Review
- Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified inClinical case reports · 2021Article
- Nonimmune Hydrops Fetalis-Prenatal Diagnosis, Genetic Investigation, Outcomes and Literature Review.Journal of clinical medicine · 2020Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
objectivesNonimmune 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.
methodsWe present a retrospective case-control study of cases with NIHF referred for LSD biochemical testing at a single center. Cases diagnosed with LSD were matched to controls with NIHF and negative LSD testing and analyzed according to the STROBE criteria to the extent the retrospective nature of this study allowed.
resultsBetween January 2006 and December 2018, 28 patients with NIHF were diagnosed with a LSD. Eight types of LSD were diagnosed: galactosialidosis 8/28 (28.6%), sialic acid storage disease (SASD) 5/28 (17.9%), mucopolysaccharidosis VII 5/28 (17.9%), Gaucher 4/28 (14.3%), sialidosis 2/28 (7.1%), GM1 gangliosidosis 2/28 (7.1%), Niemann-Pick disease type C 1/28 (3.6%), and mucolipidosis II/III 1/28 (3.6%). Associated clinical features were hepatomegaly 16/21 (76.2%) vs 22/65 (33.8%), P < .05, splenomegaly 12/20 (60.0%) vs 14/58 (24.1%), P < .05, and hepatosplenomegaly 10/20 (50.0%) vs 13/58 (22.4%) P < .05.
conclusionThe most common LSD in NIHF were galactosialidosis, SASD, mucopolysaccharidosis VII, and Gaucher disease. LSD should be considered in unexplained NIHF cases, particularly if hepatomegaly, splenomegaly, or hepatosplenomegaly is visualized on prenatal ultrasound.
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