The presence and laterality of middle cranial fossa pits (small bony defects containing CSF) and encephaloceles (brain parenchyma protrusion through osseous defects with or without bony remodeling) were recorded.
In the fetus with ventriculomegaly with encephalocelec.1167dupA mutation in the FKTN gene, in the fetus with severe polyhydramnion c.167ins6[TTTCCC] mutation in the BSND gene, and in the fetus with enlarged echogenic kidneys, c.3761_3762delCCinsG in the PKHD1 gene were identified.
Although no significant differences in rs202676 genotype or allele frequencies were found between the NTD and control groups, the combined AG+GG genotype group was significantly associated with anencephaly (p = 0.03, OR = 2.11, 95% CI, 1.11-4.01), but not with spina bifida or encephalocele.