Fetal gastroschisis: Maternal and fetal methylation profile

Objective The purpose of this study was to describe the genomic deoxyribonucleic acid (DNA) methylation profile in fetuses with gastroschisis, determine whether the profile was inherited, and investigate any possible correlations with maternal risk factors. Method Genome‐wide DNA methylation analysis of 96 blood samples was performed using the Illumina Human Methylation 850K BeadChip. The blood samples were collected as follows: 32 from the umbilical cord of fetuses with gastroschisis, 32 from their respective mothers, 16 from the umbilical cord of fetuses without malformation, and 16 from their respective mothers. Results The differential DNA methylation analysis showed a significant difference between the groups. The enrichment analysis resulted in 12 sites related to T‐cell activation (p = 0.0128). The sites with different methylation status contained 10 genes, three of which were related to the beta‐2‐microglobulin gene. The methylation profile observed in the fetuses with gastroschisis was not inherited from the mothers. In addition, there was no association between maternal urinary tract infection, smoking, and alcohol use and different methylated sites. Conclusion We established the methylation profile of gastroschisis fetuses, which differs from that of normal fetuses. The profile was not inherited and did not correlate with maternal risk factors. Key Points What is known about this topic? The etiology and pathogenesis of fetal gastroschisis and its association with environmental factors are not clearly understood, and attempts to identify a biological marker have not been successful. No previous investigation into the methylation patterns in pregnant women carrying fetuses with gastroschisis has been published What does this study add? This study provides the methylation pattern of fetuses with gastroschisis