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Non-immune hydrops fetalis: A prospective study of 53 cases.
MedLine Citation:
PMID:  24039125     Owner:  NLM     Status:  Publisher    
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.
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.
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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