To Explore The Relations Of Genetic Polymorphisms Of Folic Metabolicenzymes With The Birth Defects Risk In Pregnancy In Quzhou Area

Objective To explore the effects of folate metabolism disorder related genes and folic acid intervention on birth defects inQuzhou area.Genetic tests were performed on pregnant women to assess the risk of folate metabolic disorders,according to the evaluation results,the scientific folic acid supplementation guidance can effectively reduce the birth defect rate and achieve the eugenics.Methods To Selecte January 2016 to December 2017 obstetrical department of Quzhou wemen and children′s hosptial 1204 cases of women of childbearing age in Quzhou area were examined before or during pregnancy.Collect the oral mueosa cells of patients,then extraeted DNA from them.MTHF RC677T,A1298C,MTRRA66 genotype are analyzed by a technique of quantitative.According to the criteria of genetic risk of folic acid metabolic disorder,644cases of pregnant women were screened,according to whether or not to accept folic acid supplementation,the study group（agreed to the treatment of folic acid supplementation）and the control group（rejected folic acid supplementation）,measuie the level of the hematocyte folic acid and plasma homocysteine during the early pregnancy（12⁺66 weeks before gestation）,mid pregnancy(13 weeks to 27⁺⁶weeks gestation),late pregnancy（after 28 weeks of gestation）.And the telephone followed up the pregnancy outcome,include birth defects,spontaneous abortion,premature birth,stillbirth,and complications during pregnancy and pregnancy.Statistical analysis was performed using SPSS software.Results 1.The study enrolled a total of 644 cases,according to the criteria for determining the genetic risk of folic acid metabolism,and the study group included 294 cases and 350 patients in the control group,the distribution of MTHFR C677T and MTHFR A1298C was not statistically significant in the study group and control group（P>0.05）However,the distribution of MTRRA66G genotype in the study group and the control group was significantly different.（P<0.05）.2.Comparison of birth defects between the study group and the control group..In the study group,0 cases of trisomy syndrome（0%）,0 cases of neural tube defects（0%）,1 case of cleft lip and palate（0.3%）,1 case of urinary malformations（0.3%）,,3 cases of congenital heart disease（1%）.The control group had 21 cases of trisomy syndrome（0.3%）,1 case of neural tube defects（0.3%）,8 cases of cleft lip and palate（2.3%）,2 cases of urinary malformations（0.6%）and 10 cases of missing fingers（2.9%）,congenital heart disease in 12cases（3.4%）.The study group and the control group is a comparison of birth defects,the incidence of birth defects in the study group was 2.38%,the incidence of birth defects in the control group 9.71%.3.The blood folic acid levels of pregnant women in the study group were higher than those in the control group,and the two groups were statistically different（P<0.05）.The blood homocysteine levels of the pregnant women in the control group were higher than those in the study group,and the two groups were statistically different（P<0.05）.4.In the study group,the incidence of hypertension during pregnancy was lower than that in the control group,and the two groups were statistically different（P<0.05）.There were no statistically significant differences in the incidence of gestational diabetes and gestational anemia in pregnant women in both groups（P>0.05）.5.The premature rupture of fetal membranes and the incidence of amniotic fluid in the study group were lower than those in the control group.,compared with the control group,there were statistically significant differences between the two groups（P<0.05）.There were no statistically significant differences in the incidence of preplacenta,placental abruption and umbilical cord abnormality between the two groups（P>0.05）.Conclusion 1.MTHFRC677T,MTHFRA1298C genotype distribution in the study group and the control group,no significant difference（P>0.05）However,the distribution of MTRRA66G genotype in the study group and the control group was significantly different（P<0.05）,that suggested that MTHFR gene polymorphism may have an impact on the occurrence of birth defects and is a potential influencing factor of disease occurrence.2.According to the genetic test,folic acid can reduce the incidence of birth defects such as neural tube malformation,21-trisomic syndrome,cleft lip and palate,deficiency of finger and congenital heart disease.3.Folic acid supplementation during pregnancy reduces the blood Hcy level and can reduce the birth defect rate.4.According to the genetic testing,folic acid can reduce the incidence of hypertension,premature rupture of membranes and amniotic fluid in pregnancy.