G. Grange et al., ENDOVAGINAL SONOGRAPHIC DIAGNOSIS OF CRANIORACHISCHISIS AT 13 WEEKS OF GESTATION, Fetal diagnosis and therapy, 9(6), 1994, pp. 391-394
A rare case of craniorachischisis associated with trisomy 18 is descri
bed. The diagnosis was made by endovaginal sonography during the first
trimester of pregnancy. The case is interesting for two reasons. Firs
t, it confirms the importance of carrying out an accurate sonographic
examination during the first trimester. Second, it shows us that the p
ostmortem examination should be performed by an experienced anatomist:
embryos need to be embedded in paraffin wax for microscopic observati
on and, at present, little is known about the abnormalities of embryo
anatomy.