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Type: Artigo de periódico
Title: Non-immune Hydrops Fetalis: A Prospective Study Of 53 Cases.
Author: Moreno, Carolina A
Kanazawa, Thatiane
Barini, Ricardo
Nomura, Marcelo L
Andrade, Kléber C
Gomes, Cristiane P
Heinrich, Juliana K
Giugliani, Roberto
Burin, Maira
Cavalcanti, Denise P
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 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.
Subject: Adult
Chromosome Aberrations
Chromosome Disorders
Hydrops Fetalis
Infant, Newborn
Lysosomal Storage Diseases
Metabolism, Inborn Errors
Inborn Errors Of Metabolism, Lysossomal Storage Disorder
Non-immune Hydrops Fetalis
Protocol Investigation
Spontaneous Resolution
Rights: fechado
Identifier DOI: 10.1002/ajmg.a.36171
Date Issue: 2013
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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