Literature DB >> 20425823

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

Carlo Bellini1, Ezio Fulcheri, Mariangela Rutigliani, Maria Grazia Calevo, Francesco Boccardo, Corradino Campisi, Eugenio Bonioli, Tommaso Bellini, Raoul C M Hennekam.   

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 in 1/79 (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. Copyright 2010 Wiley-Liss, Inc.

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Year:  2010        PMID: 20425823     DOI: 10.1002/ajmg.a.33191

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  3 in total

Review 1.  A system-based approach to the genetic etiologies of non-immune hydrops fetalis.

Authors:  Anne H Mardy; Shilpa P Chetty; Mary E Norton; Teresa N Sparks
Journal:  Prenat Diagn       Date:  2019-06-26       Impact factor: 3.050

2.  Biological importance of podoplanin expression in chorionic villous stromal cells and its relationship to placental pathologies.

Authors:  Nilufer Onak Kandemir; Figen Barut; Aykut Barut; İsmail Eren Birol; Banu Dogan Gun; Sukru Oguz Ozdamar
Journal:  Sci Rep       Date:  2019-10-02       Impact factor: 4.379

3.  CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.

Authors:  Sohela Shah; Laura K Conlin; Luis Gomez; Øystein Aagenaes; Kristin Eiklid; A S Knisely; Michael T Mennuti; Randolph P Matthews; Nancy B Spinner; Laura N Bull
Journal:  PLoS One       Date:  2013-09-26       Impact factor: 3.240

  3 in total

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