Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/61997
Type: Artigo de periódico
Title: Non-immune Hydrops Fetalis: A Prospective Study of 53 Cases
Author: Moreno, CA
Kanazawa, T
Barini, R
Nomura, ML
Andrade, KC
Gomes, CP
Heinrich, JK
Giugliani, R
Burin, M
Cavalcanti, DP
Abstract: 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 years2010 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. (c) 2013 Wiley Periodicals, Inc.
Subject: non-immune hydrops fetalis
etiology
protocol investigation
spontaneous resolution
inborn errors of metabolism
lysossomal storage disorder
Country: EUA
Editor: Wiley-blackwell
Rights: fechado
Identifier DOI: 10.1002/ajmg.a.36171
Date Issue: 2013
Appears in Collections:Unicamp - Artigos e Outros Documentos

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