Practicing Pediatric Pathology Without a Microscope

This article highlights changes in the field of pediatric pathology that have resulted from technical advances in prenatal diagnostics, immunohistochemistry, cytogenetics, and molecular genetics. The relatively new and growing need for specialized training in fetal pathology is used as an example. Comprehensive evaluation of human fetuses has become a requisite skill for many diagnostic pathologists, in part because contemporary prenatal diagnostic techniques have shifted the demographics of many congenital conditions from spontaneous term delivery to mid-gestation termination of pregnancy. The information provided by the pathologist has a tremendous impact for families and clinicians as they consider recurrence risks in future pregnancies. As most specimens from therapeutic terminations have gross dysmorphology, which may or may not constitute a recognizable pattern of human malformation, their analysis requires additional skills and methods that were traditionally the domain other specialists (e.g., medical geneticists). The pathologist must learn to identify syndromes, to be aware of their underlying etiology and pathogenesis, and to utilize advanced cytogenetic methods (e.g., fluorescence in situ hybridization), flow cytometry, or specific mutational analysis when appropriate. At a minimum, important anatomic details must be well documented and appropriate tissue samples should be obtained and stored to facilitate more specific diagnostic testing in the future.