Non-immune Hydrops Fetalis: A Prospective Study Of 53 Cases.

dc.creatorMoreno, Carolina A
dc.creatorKanazawa, Thatiane
dc.creatorBarini, Ricardo
dc.creatorNomura, Marcelo L
dc.creatorAndrade, Kléber C
dc.creatorGomes, Cristiane P
dc.creatorHeinrich, Juliana K
dc.creatorGiugliani, Roberto
dc.creatorBurin, Maira
dc.creatorCavalcanti, Denise P
dc.date2013-Dec
dc.date2015-11-27T13:32:09Z
dc.date2015-11-27T13:32:09Z
dc.date.accessioned2018-03-29T01:18:30Z
dc.date.available2018-03-29T01:18:30Z
dc.identifierAmerican Journal Of Medical Genetics. Part A. v. 161A, n. 12, p. 3078-86, 2013-Dec.
dc.identifier1552-4833
dc.identifier10.1002/ajmg.a.36171
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/24039125
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/200815
dc.identifier24039125
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1301048
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 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.
dc.description161A
dc.description3078-86
dc.languageeng
dc.relationAmerican Journal Of Medical Genetics. Part A
dc.relationAm. J. Med. Genet. A
dc.rightsfechado
dc.rights© 2013 Wiley Periodicals, Inc.
dc.sourcePubMed
dc.subjectAdult
dc.subjectChromosome Aberrations
dc.subjectChromosome Disorders
dc.subjectFemale
dc.subjectHumans
dc.subjectHydrops Fetalis
dc.subjectInfant, Newborn
dc.subjectLysosomal Storage Diseases
dc.subjectMale
dc.subjectMetabolism, Inborn Errors
dc.subjectPregnancy
dc.subjectEtiology
dc.subjectInborn Errors Of Metabolism, Lysossomal Storage Disorder
dc.subjectNon-immune Hydrops Fetalis
dc.subjectProtocol Investigation
dc.subjectSpontaneous Resolution
dc.titleNon-immune Hydrops Fetalis: A Prospective Study Of 53 Cases.
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución