P0724 / #1912: ASSOCIATION OF FETAL MTHFR POLYMORPHISM WITH CONGENITAL DIAPHRAGMATIC HERNIA

Abstract

Aims & Objectives: 5,10-Methylenetetrahydrofolate reductase (MTHFR) is an enzyme that plays an important role in folate metabolism and related with DNA synthesis, repair and methylation. MTHFR polymorphism has been positively associated with many different diseases. Here, it was aimed to evaluate MTHFR polymorphism, which has been shown to be associated with midline defects such as neural tube defect, omphalocele gastroschisis and cleft palate / lip, as a possible risk factor for congenital diaphragmatic hernia (CDH). Methods: MTHFR gene mutation analysis was investigated from a total of 10 newborn babies diagnosed with congenital diaphragmatic hernia who were admitted to Pediatric Intensive Care Unit of Hacettepe University between 2015-2019. Results: All children were heterozygous or homozygous for the MTHFR gene. 3 patients had only MTHFR 677 heterozygous mutation, 3 patients had only MTHFR 1298 heterozygous mutation, and 3 patients had both MTHFR 677 and MTFR 1298 heterozygous mutation, 1 patient had MTHFR 677 homozygous mutation. There were no patients with normal 2 MTHFR allele. This is the first study based on the hypothesis that MTHFR gene mutation may be a possible risk factor for CDH. This study found that MTHFR polymorphism common in children with CDH. Because of our study has limitations such as not having a control group, not having mother infant folic acid and homocysteine levels. Conclusions: Larger prospective studies are needed to show the relationship between MTHFR polymorphism and CDH.