Non-immune hydrops fetalis: A prospective study of 53 cases

Authors

  • Carolina A. Moreno,

    1. 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
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  • Thatiane Kanazawa,

    1. 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
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  • Ricardo Barini,

    1. Fetal Medicine Service, Woman's Hospital Prof. Dr J. A. Pinotti, State University of Campinas (Unicamp), Campinas, São Paulo, Brazil
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  • Marcelo L. Nomura,

    1. Fetal Medicine Service, Woman's Hospital Prof. Dr J. A. Pinotti, State University of Campinas (Unicamp), Campinas, São Paulo, Brazil
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  • Kléber C. Andrade,

    1. Fetal Medicine Service, Woman's Hospital Prof. Dr J. A. Pinotti, State University of Campinas (Unicamp), Campinas, São Paulo, Brazil
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  • Cristiane P. Gomes,

    1. Faculty of Medical Sciences, Department of Pathology, State University of Campinas (Unicamp), Campinas, São Paulo, Brazil
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  • Juliana K. Heinrich,

    1. Cell Culture and Cytogenetics Laboratory, Woman's Hospital Prof. Dr. J. A. Pinotti, State University of Campinas (Unicamp), Campinas, São Paulo, Brazil
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  • Roberto Giugliani,

    1. Medical Genetics Service, Clinics Hospital of Porto Alegre, Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil
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  • Maira Burin,

    1. Medical Genetics Service, Clinics Hospital of Porto Alegre, Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil
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  • Denise P. Cavalcanti

    Corresponding author
    1. 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
    • Correspondence to:

      Denise P. Cavalcanti, M.D., Ph.D., Departamento de Genética Médica, FCM, Unicamp. R. Tessália Vieira de Camargo, 126, 13083-887 Campinas, São Paulo, Brazil.

      E-mail: denisepcavalcanti@gmail.com

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  • Conflict of interest: none.

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. © 2013 Wiley Periodicals, Inc.

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