ArticleJIMD reports2017
Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience.
Article in JIMD reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review.Clinical genetics · 2021Pooled it
- Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP).Prenatal diagnosis · 2026Article
- Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report.BMC pregnancy and childbirth · 2025Article
- Etiology and perinatal outcomes between early and late-onset nonimmune hydrops fetalis.Revista da Associacao Medica Brasileira (1992) · 2024Article
- Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects.Prenatal diagnosis · 2023Review
- MPSI Manifestations and Treatment Outcome: Skeletal Focus.International journal of molecular sciences · 2022Review
- Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis.Frontiers in genetics · 2021Article
- Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study.Prenatal diagnosis · 2020Article
- Non-immune Hydrops in Neonates: A Tertiary Care Center Experience.Indian pediatrics · 2020Article
- Infantile onset Pompe disease presenting with non-immune hydrops fetalis.Molecular genetics and metabolism reports · 2019Article
- Mucopolysaccharidoses: early diagnostic signs in infants and children.Italian journal of pediatrics · 2018Review
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lysosomal storage disorders (LSD) are rare inherited neurovisceral inborn errors of metabolism which may present as nonimmune hydrops fetalis (NIHF) during pregnancy. Although causes of NIHF are highly diverse, LSDs are one of the underlying causes of NIHF. The aim of this study was to elucidate most frequent causes of LSDs presenting as NIHF in Indian population. Several fetal tissues were investigated for enzymatic diagnosis of LSDs using modified fluorometric assays in the current prospective study carried out at our national tertiary center from 2006 through 2016. Other general causes of NIHF were ruled out. Twenty-one percent (7/33) of cases were confirmed to have LSDs. Two patients were diagnosed with Hurler syndrome; two had Sly syndrome and one each of Niemann-Pick disease type A/B, Gaucher's disease, and mucolipidosis. Four of eleven cases (36%) with recurrent NIHF were found to have LSDs. In spite of extreme rarity of LSDs, they should be considered as a potential cause of NIHF, especially with recurrent NIHF. Specific investigations of LSD leading to definitive diagnosis may aid the clinician in providing accurate genetic counseling and prenatal diagnosis to the patients and help in subsequent pregnancies to the families. Furthermore, early intervention and management with enzyme replacement therapy may be planned for the lysosomal storage disorders where available.
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Registered trials
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