The incidence of inherited errors of metabolism ranges from 1 in 50,000 to 1 in 150,000. Although any given inborn error of metabolism is very rare, taken as a group, inborn errors occur in 1 in 2500 births. Most cases present with fetal and/or placental hydrops. Recognising vacuolation within the trophoblast of the placenta may prompt focused investigation for specific gene mutations involved in specific inborn errors of metabolism. This chapter aims to distinguish between the different types of vacuolation which may be seen in the placenta on microscopy and outline the possible diagnoses which should be considered. This may allow for prompt detection of such disorders and novel approaches to therapy.
Metabolic disease Trophoblast Hofbauer cells Vacuolation Electron microscopy Inborn errors of metabolism
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