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Fetal Storage Disorders

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Pathology of the Human Placenta

Abstract

Many of the so-called errors in metabolism, the storage diseases, produce inclusions or vacuoles in the tissues of affected individuals. The placenta is often similarly involved, and chorionic villus biopsy (CVS) is now more often employed to make the diagnosis prenatally, as for instance in diagnosing lipofuscinosis (Rapola et al. 1990). Electronmicroscopy and special enzyme studies are usually helpful for the precise diagnosis of the defect involved. Thus, appropriate fixation is needed when such disease is suspected and it must also be anticipated at the time of CVS, as many of the lysosomal inclusions are highly water and lipid-solvent soluble. Attempts at resolving the storage problems have been summarized by Bruni et al. (2007); they of course include bone marrow transplantation and, as discussed there, chemical chaperone therapy. Since many of these diseases are the cause of fetal hydrops, the cases of nonimmune hydrops fetalis warrant special attention. An excellent ultrastructural study of 11 cases has been published by Jones et al. (1990) that details procedures and findings, and Fox (1997) has shown other material. These publications depict the findings in admirable detail and provide additional literature. Table 18.1 summarizes the current status of placental studies in various storage disorders.

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Authors and Affiliations

  1. Prestwick Drive, La Jolla, CA, USA

    Kurt Benirschke M.D.

  2. Physiological Laboratory, University of Cambridge Centre for Trophoblast Research, Cambridge, UK

    Graham J. Burton M.D., D.Sc.

  3. Department of Pathology and Laboratory Medicine New York-Presbyterian Hospital, Weill Medical College of Cornell University, New York, NY, USA

    Rebecca N. Baergen M.D.

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Benirschke, K., Burton, G.J., Baergen, R.N. (2012). Fetal Storage Disorders. In: Pathology of the Human Placenta. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-23941-0_18

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