Document Detail

Lysosomal Storage Diseases as an Etiology of Non-Immune Hydrops: a Systematic Review.
MedLine Citation:
PMID:  25305402     Owner:  NLM     Status:  Publisher    
We performed a systematic review of the literature to evaluate the incidence and types of lysosomal storage disorders (LSD) in case series of non-immune hydrops (NIH). PubMed and Ovid were reviewed for case series evaluating the work-up of NIH diagnosed in utero or in the neonatal period in human subjects. Search terms were 'non-immune hydrops,' 'non immune hydrops,' 'metabolic genetic disorders,' and 'lysosomal storage disorders.' The time period searched was 1979- January 2014. Retrospective case series with at least five cases of fetal and/or neonatal NIH with its work-up mentioned were identified. Idiopathic NIH was defined as NIH without an apparent cause after initial work-up. Exclusion criteria were: studies published in languages other than English, and review articles. The three authors screened all abstracts and manuscripts independently. MOOSE guidelines were followed. Fifty-four case series with 678 total cases of NIH were identified. The overall incidence of LSD was 5.2% (35/678) in all NIH cases that tested for any LSD, and 17.4% (35/201) in idiopathic NIH cases. The three most common LSD identified in cases of NIH, in order of decreasing incidence, were Mucopolysaccharidosis type VII, Gaucher's disease and GM1-gangliosidosis. LSD occur in 5.2% of all NIH cases, and in 17.4% of idiopathic NIH cases, and so should be screened for in this clinical scenario. Additionally, if a comprehensive LSD work up is completed on idiopathic cases, 29.6 % of those would be reclassified as LSD. LSD testing does not only allow diagnosis, but also ensures better counseling, appropriate management, and planning for possible early intervention. Moreover, their detection may aid in prenatal diagnosis in subsequent pregnancies.
Alexis C Gimovsky; Paola Luzi; Vincenzo Berghella
Publication Detail:
Type:  REVIEW     Date:  2014-10-8
Journal Detail:
Title:  American journal of obstetrics and gynecology     Volume:  -     ISSN:  1097-6868     ISO Abbreviation:  Am. J. Obstet. Gynecol.     Publication Date:  2014 Oct 
Date Detail:
Created Date:  2014-10-11     Completed Date:  -     Revised Date:  2014-10-12    
Medline Journal Info:
Nlm Unique ID:  0370476     Medline TA:  Am J Obstet Gynecol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2014 Elsevier Inc. All rights reserved.
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