Immunohistochemistry in non-immune hydrops fetalis: A single center experience in 79 fetuses

Carlo Bellini, Ezio Fulcheri, Mariangela Rutigliani, Maria Grazia Calevo, Francesco Boccardo, Corradino Campisi, Eugenio Bonioli, Tommaso Bellini, Raoul C M Hennekam

Research output: Contribution to journalArticle

Abstract

The objective of our study was to evaluate the usefulness of immunohistochemical (IHC) staining techniques in the etiological diagnosis of non-immune hydrops fetalis (NIHF). The records of all 1,098 autopsies performed between January 1987 and May 2008, by the Division of Fetal Pathology of the University of Genoa, were reviewed and all 79 fetuses diagnosed with NIHF were re-evaluated. Additional IHC staining using antibodies that specifically stain blood and lymph vessels (CD31, CD34, smooth muscle actin antibody, D2-40) were performed. Results were compared to results from the literature. Our results showed that in 67/79 cases, evaluation by standard autopsy protocol led to an etiologic diagnosis. Furthermore, we were able to identify the pathogenetic mechanisms that eventually caused NIHF in 42/79 cases. Adding IHC staining to all evaluations identified the pathogenetic mechanism in a further 17 cases (total 59/79 cases). Lymphatic dysplasia was diagnosed by standard autopsy protocol in1/79 (1.3%), while adding IHC staining resulted in 18/79 (22.8%) cases being diagnosed (P=0.0001). The present rate of 22.8% of lymphatic dysplasia in non-immune hydrops fetalis is significantly higher than reported in the literature (36/818 or 4.4%; P=0.01). In conclusion, specific IHC staining techniques aimed at detecting lymphatic dysplasia are needed and should be mandatory in autopsies of fetuses with non-immune hydrops fetalis.

Original languageEnglish
Pages (from-to)1189-1196
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Volume152
Issue number5
DOIs
Publication statusPublished - May 2010

Keywords

  • Autopsy
  • Human fetus
  • Immunohistochemistry
  • Non-immune hydrops fetalis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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