Coeliac disease is an important cause of malabsorption, particularly o
f folic acid, in adults. We investigated the possibility that it might
be a maternal risk factor for neural tube defect (NTD)-associated pre
gnancy by screening affected mothers using serum endomysial antibody (
EmA) which has high sensitivity and specificity for coeliac disease. O
ne (1.6%) of 60 patients was EmA positive and had a diagnosis of coeli
ac disease confirmed by the finding of villous atrophy on jejunal biop
sy. In conclusion, the majority of NTD-associated pregnancies are not
associated with maternal coeliac disease and our study is additional e
vidence that abnormalities of folic acid metabolism rather than absorp
tion are the most important risk factors for NTD. Further studies are
needed to determine whether the coeliac disease prevalence among women
with NTD-affected pregnancy is higher than that of the general popula
tion.