dc.creatorMoreno, CA
dc.creatorKanazawa, T
dc.creatorBarini, R
dc.creatorNomura, ML
dc.creatorAndrade, KC
dc.creatorGomes, CP
dc.creatorHeinrich, JK
dc.creatorGiugliani, R
dc.creatorBurin, M
dc.creatorCavalcanti, DP
dc.date2013
dc.dateDEC
dc.date2014-07-30T14:48:32Z
dc.date2015-11-26T17:40:45Z
dc.date2014-07-30T14:48:32Z
dc.date2015-11-26T17:40:45Z
dc.date.accessioned2018-03-29T00:22:29Z
dc.date.available2018-03-29T00:22:29Z
dc.identifierAmerican Journal Of Medical Genetics Part A. Wiley-blackwell, v. 161, n. 12, n. 3078, n. 3086, 2013.
dc.identifier1552-4825
dc.identifier1552-4833
dc.identifierWOS:000330038000019
dc.identifier10.1002/ajmg.a.36171
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/61997
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/61997
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1286822
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionNon-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.
dc.description161
dc.description12
dc.description3078
dc.description3086
dc.descriptionFaepex [974/2010]
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionFaepex [974/2010]
dc.descriptionCNPq [402008/2010-3, 590148/2011-7]
dc.descriptionCNPq [573993/2008-4.402008/2010-3, 573993/2008-4]
dc.languageen
dc.publisherWiley-blackwell
dc.publisherHoboken
dc.publisherEUA
dc.relationAmerican Journal Of Medical Genetics Part A
dc.relationAm. J. Med. Genet. A
dc.rightsfechado
dc.rightshttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.sourceWeb of Science
dc.subjectnon-immune hydrops fetalis
dc.subjectetiology
dc.subjectprotocol investigation
dc.subjectspontaneous resolution
dc.subjectinborn errors of metabolism
dc.subjectlysossomal storage disorder
dc.subjectLysosomal Storage Diseases
dc.subjectIn-utero
dc.subjectPrenatal-diagnosis
dc.subjectExperience
dc.subjectManagement
dc.subjectPregnancy
dc.subjectEtiology
dc.subjectSeries
dc.titleNon-immune Hydrops Fetalis: A Prospective Study of 53 Cases
dc.typeArtículos de revistas


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