title: Non-immune hydrops fetalis: A prospective study of 53 cases.
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.
authors.affiliation: Faculty of Medical Sciences, Department of Medical Genetics, Perinatal Genetics Program, Woman's Hospital Prof. Dr. J. A. Pinotti, State University of Campinas (Unicamp), Campinas, São Paulo, Brazil.
authors.forename: Carolina A
authors.initials: CA
authors.lastname: Moreno
authors.forename: Thatiane
authors.initials: T
authors.lastname: Kanazawa
authors.forename: Ricardo
authors.initials: R
authors.lastname: Barini
authors.forename: Marcelo L
authors.initials: ML
authors.lastname: Nomura
authors.forename: Kléber C
authors.initials: KC
authors.lastname: Andrade
authors.forename: Cristiane P
authors.initials: CP
authors.lastname: Gomes
authors.forename: Juliana K
authors.initials: JK
authors.lastname: Heinrich
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
authors.forename: Maira
authors.initials: M
authors.lastname: Burin
authors.forename: Denise P
authors.initials: DP
authors.lastname: Cavalcanti
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis* / Q000235:genetics* / Q000401:mortality / Q000503:physiopathology; D007231:Infant, Newborn; D016464:Lysosomal Storage Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics; D011247:Pregnancy
keywords: etiology; inborn errors of metabolism, lysossomal storage disorder; non-immune hydrops fetalis; protocol investigation; spontaneous resolution