Abstract
Background: Each year, an estimated 300,000 babies are born with neural tube defects and approximately 88,000 of these affected births result in death. It is widely believed that neural tube defects develop from a combination of genetic and environmental factors.
Aim: The purpose of this research is to synthesise knowledge about the genetic mechanisms underlying myelomeningocele (the main form of spina bifida), anencephaly, and craniorachischisis, to provide an up-to-date understanding of their molecular basis and pathophysiology.
Method: An integrative review approach was utilised beginning with a systematic database search of i) MEDLINE, ii) PubMed, iii) Scopus, and iv) Biological Science Collection (ProQuest). Studies investigating genes in human cases of myelomeningocele, anencephaly and craniorachischisis in the last 10 years were included. The main outcomes of interest were genetic variants in cases of neural tube defects and functional analysis of these mutant genes. Data was extracted and analysed utilising constant-comparative analysis. Results: A total of 15 studies were included in this research. The genetic variants identified in the studies were synthesised into categories dependent on the type of defect: myelomeningocele, anencephaly, and craniorachischisis. A total of 86 variants in 26 genes were identified in the included studies and functional analysis of the variants revealed that the majority of genes have key roles in the signalling pathways: planar cell polarity, β-catenin and sonic hedgehog.
Conclusion: This integrative review highlighted the genetic complexity of neural tube defects and illustrated the role of signalling pathways in their development. This research provided an up-to-date synthesis of genes contributing to open neural tube defects which can be utilised by nurses and other clinicians to advance their knowledge and educate patients.