Metilen Tetrahidrofolat Redüktaz Enzim Mutasyonlarına Bağlı Dna Metilasyon Defektlerinde Obstetrik Sonuçlar

Abstract

Poor obstetrics/perinatal outcomes in methylation defects due to methylen tetrahydrofolate reductase enzyme polymorphysim are known for a long time. In these patients who had MTHFR enzyme polymorhysim, frequencies of vascular disorders of placenta (miscarriage, intrauterine growth restriction, preterm birth, preeclampsia, and ruptures of membranes etc.) and chromosomal/non-chromosomal fetal abnormalities are increased. In this study, we compared MTHFR polymorphysim frequency, obstetrical/perinatal outcomes, success of treatment between patients who had MTHFR polymorphism and normal status for this situation. Our aim is to detect a possible relationship between perinatal complications and placental vascular diseases. We found that patients who had homozygous or compound heterozygous mutation for MTHFR enzyme had worse results when compared patients who had single heterozygous or negative status for this mutation in terms of perinatal outcomes. We found that "Beksac Obstetrics Index" decreased with increasing severity of the polymorphism. On the other hand, in terms of birth history of baby with chromosomal and non-chromosomal abnormalities, patient condensation was observed in the group with MTHFR polymorphism. Besides, we found that perinatal mortality and miscarriage rates are decreased when appropriate therapy is received. Early diagnosis led early medical therapeutic interventions and close surveillance available. The outcomes of this group should be considered in this context. We suggest that in pregnancies that MTHFR polymorphism were detected, looking for the underlying pathology and directed medical therapy may prevent most of the complications.