dc.creator | Moreno, CA | |
dc.creator | Kanazawa, T | |
dc.creator | Barini, R | |
dc.creator | Nomura, ML | |
dc.creator | Andrade, KC | |
dc.creator | Gomes, CP | |
dc.creator | Heinrich, JK | |
dc.creator | Giugliani, R | |
dc.creator | Burin, M | |
dc.creator | Cavalcanti, DP | |
dc.date | 2013 | |
dc.date | DEC | |
dc.date | 2014-07-30T14:48:32Z | |
dc.date | 2015-11-26T17:40:45Z | |
dc.date | 2014-07-30T14:48:32Z | |
dc.date | 2015-11-26T17:40:45Z | |
dc.date.accessioned | 2018-03-29T00:22:29Z | |
dc.date.available | 2018-03-29T00:22:29Z | |
dc.identifier | American Journal Of Medical Genetics Part A. Wiley-blackwell, v. 161, n. 12, n. 3078, n. 3086, 2013. | |
dc.identifier | 1552-4825 | |
dc.identifier | 1552-4833 | |
dc.identifier | WOS:000330038000019 | |
dc.identifier | 10.1002/ajmg.a.36171 | |
dc.identifier | http://www.repositorio.unicamp.br/jspui/handle/REPOSIP/61997 | |
dc.identifier | http://repositorio.unicamp.br/jspui/handle/REPOSIP/61997 | |
dc.identifier.uri | http://repositorioslatinoamericanos.uchile.cl/handle/2250/1286822 | |
dc.description | Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) | |
dc.description | 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. | |
dc.description | 161 | |
dc.description | 12 | |
dc.description | 3078 | |
dc.description | 3086 | |
dc.description | Faepex [974/2010] | |
dc.description | Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) | |
dc.description | Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) | |
dc.description | Faepex [974/2010] | |
dc.description | CNPq [402008/2010-3, 590148/2011-7] | |
dc.description | CNPq [573993/2008-4.402008/2010-3, 573993/2008-4] | |
dc.language | en | |
dc.publisher | Wiley-blackwell | |
dc.publisher | Hoboken | |
dc.publisher | EUA | |
dc.relation | American Journal Of Medical Genetics Part A | |
dc.relation | Am. J. Med. Genet. A | |
dc.rights | fechado | |
dc.rights | http://olabout.wiley.com/WileyCDA/Section/id-406071.html | |
dc.source | Web of Science | |
dc.subject | non-immune hydrops fetalis | |
dc.subject | etiology | |
dc.subject | protocol investigation | |
dc.subject | spontaneous resolution | |
dc.subject | inborn errors of metabolism | |
dc.subject | lysossomal storage disorder | |
dc.subject | Lysosomal Storage Diseases | |
dc.subject | In-utero | |
dc.subject | Prenatal-diagnosis | |
dc.subject | Experience | |
dc.subject | Management | |
dc.subject | Pregnancy | |
dc.subject | Etiology | |
dc.subject | Series | |
dc.title | Non-immune Hydrops Fetalis: A Prospective Study of 53 Cases | |
dc.type | Artículos de revistas | |