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Non-immune hydrops fetalis: A prospective study of 53 cases.
MedLine Citation:
PMID:  24039125     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Non-immune hydrops fetalis (NIHF) is a symptom caused by a heterogeneous group of conditions. Diagnostic investigations may constitute a real challenge. This study aimed to evaluate prospectively and systematically a series of NIHF cases using a research protocol expanded for studying inborn errors of metabolism (IEM) during 2 years-2010 and 2011. We also reviewed the frequency of IEM among the NIHF reported in literature. A clinical or etiopathogenic diagnosis was reached in 46 (86.8%) of the 53 studied cases. The main diagnostic groups were chromosomal anomalies (28.3%), syndromic (18.9%), isolated cardiovascular anomaly (7.5%) and congenital infection (7.5%). Metabolic causes were found in 5.7%, all lysosomal storage disorders (LSD). In seven (13.2%), no diagnosis was found in part because of incomplete evaluation. The hydrops was identified prenatally in 90.5% of cases. In 5.7% a spontaneous and complete resolution of the hydrops occurred during pregnancy. Overall mortality was 75.5%. The IEM frequency in the present study (5.7%) was higher than that usually reported. We suggest performing studies directed to IEMs if the more common causes are excluded. © 2013 Wiley Periodicals, Inc.
Authors:
Carolina A Moreno; Thatiane Kanazawa; Ricardo Barini; Marcelo L Nomura; Kléber C Andrade; Cristiane P Gomes; Juliana K Heinrich; Roberto Giugliani; Maira Burin; Denise P Cavalcanti
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-8-16
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  -     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2013 Aug 
Date Detail:
Created Date:  2013-9-16     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2013 Wiley Periodicals, Inc.
Affiliation:
Faculty of Medical Sciences, Department of Medical Genetics, Perinatal Genetics Program, Woman's Hospital Prof. Dr. J. A. Pinotti, State University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
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