Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review.

Abstract

We performed a systematic review of the literature to evaluate the incidence and types of lysosomal storage disorders (LSD) in case series of nonimmune hydrops fetalis (NIHF). PubMed, Ovid, and clinicaltrials.gov were reviewed for case series evaluating the workup of NIHF diagnosed in utero or in the neonatal period in human subjects from 1979 to August 2020. Retrospective case series with at least five cases of fetal and/or neonatal NIHF with its workup mentioned were identified. Idiopathic NIHF was defined as NIHF without an apparent cause after initial standard-of-care workup. In total, 22 case series with 2678 total cases of NIHF were identified. The overall incidence of LSD was 6.6% (177/2663) in NIHF cases that were tested for any LSD, and 8.2% (177/2151) in idiopathic NIHF cases. The most common LSD identified in cases of NIHF were mucopolysaccharidosis type VII, galactosialidosis, infantile sialic acid storage disease, Gaucher disease, GM1 gangliosidosis, and sialidosis. More than 40% of the most common LSD causes of NIHF have a potential postnatal treatment. LSD testing for NIHF allows for early diagnosis, better counseling and appropriate management, planning for possible early treatment, and counseling for recurrence risk.

• Authors: Neel S Iyer, Alexis C Gimovsky, Carlos R Ferreira, Elizabeth Critchlow, Huda B Al-Kouatly
• Journal: Clinical genetics (Clin Genet) Vol. 100 Issue 5 Pg. 493-503 (11 2021) ISSN: 1399-0004 [Electronic] Denmark
• PMID: 34057202 (Publication Type: Journal Article, Meta-Analysis, Systematic Review)
• Copyright: © 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Chemical References

• Biomarkers

Topics

• Animals
• Biomarkers
• Clinical Decision-Making
• Disease Management
• Disease Susceptibility
• Female
• Genetic Predisposition to Disease
• Humans
• Hydrops Fetalis (diagnosis, epidemiology, etiology)
• Lysosomal Storage Diseases (complications, diagnosis, etiology, metabolism)
• Molecular Diagnostic Techniques
• Pregnancy