Is vacuolization in amniocytes really pathognomonic for fetal gastroschisis?

Cytoplasmic vacuolization in amniocytes reportedly is specific to gastroschisis, but documentation is anecdotal. To test this point, we compared 47 placentas from documented cases of gastroschisis to 48 placentas from patients without gastroschisis. We found amniocyte vacuolization is highly sensitive (0.94), but not nearly as specific (0.44) for gastroschisis even after accounting for extent or prominence of vacuoles (specificities <0.73). The lack of specificity results from similar, if not identical, cytoplasmic vacuolization seen in term placentas. If one limits comparison to cases delivered before 37 weeks’ gestation, then amniocyte vacuolization is highly sensitive (0.95) and specific (0.82) for gastroschisis.