叶酸代谢基因检测在降低胎儿神经管畸形发生率中的应用  

Application of folate metabolism gene detection in reducing the incidence rate of fetal neural tube defects

作　　者：李华 沈学萍 卢绚丽 顾惠凤 LI Hua;SHEN Xue-ping;LU Xuan-li;GU Hui-feng(Huzhou Municipal Maternal and Child Health Care Hospital,Huzhou,Zhejiang 313000,China)

机构地区：[1]湖州市妇幼保健院,浙江湖州313000

出　　处：《中国妇幼保健》2024年第7期1325-1328,共4页Maternal and Child Health Care of China

基　　金：浙江省医药卫生科技计划项目(2023KY323)。

摘　　要：目的探讨叶酸代谢基因检测指导孕妇科学服用叶酸在降低胎儿神经管畸形发生率中的作用。方法根据湖州市妇幼保健院产前门诊不同时期推荐叶酸服用方案,选取2016年1月—2017年12月7975例孕妇作为对照组,2020年1月—2021年12月11475例孕妇作为观察组。观察组进行叶酸代谢基因检测,根据检测结果给予个性化叶酸补充指导,对照组未经基因检测,按照常规剂量进行叶酸补充。分析观察组叶酸代谢基因检测结果,并评估其叶酸利用能力风险等级,比较两组胎儿神经管畸形发生情况。结果观察组孕妇亚甲基四氢叶酸还原酶(MTHFR)677CC、MTHFR 677CT、MTHFR 677TT基因型分布比例分别为36.45%、46.90%、16.64%。观察组孕妇叶酸利用能力低度风险、中度风险、重度风险比例分别为42.00%、28.00%、30.00%。观察组胎儿神经管畸形总发生率为0.64%,低于对照组的1.83%,差异有统计学意义(χ^(2)=60.307,P<0.05)。结论孕妇进行叶酸代谢基因检测十分必要,根据检测结果指导孕妇进行叶酸补充具有科学性,能够有效降低胎儿神经管畸形发生率。Objective To explore the role of folate metabolism gene detection in reducing the incidence rate of fetal neural tube defects through directing scientific supplementation of folic acid in pregnant women.Methods According to the recommended plan of supplementation of folic acid in different stages in antenatal clinic of Huzhou Municipal Maternal and Child Health Care Hospital,7975 pregnant women from January 2016 to December 2017 were selected as control group,11475 pregnant women from January 2020 to December 2021 were selected as observation group.Folate metabolism gene detection was conducted in observation group,then personalized direction of folic acid supplementation was provided according to the detection results.Folate metabolism gene detection was conducted in control group,conventional dose of folic acid was provided.The results of folate metabolism gene detection in observation group was analyzed to evaluate the degree of risk of folic acid utilization capacity,the incidence rates of fetal neural tube defects in the two groups were compared.Results The frequencies of 5,10-methylenetetrahydrofolate reductase(MTHFR)677CC,MTHFR 677CT,and MTHFR 677TT genotypes in observation group were 36.45%,46.90%,and 16.64%,respectively.The proportions of low risk,moderate risk,and high risk of folic acid utilization capacity in observation group were 42.00%,28.00%,and 30.00%,respectively.The total incidence rate of fetal neural tube defects in observation group was 0.64%,which was lower than that in control group(1.83%),there was statistically significant difference(χ^(2)=60.307,P<0.05).Conclusion Folate metabolism gene detection is necessary in pregnant women,supplementation of folic acid based on the detection results is scientific,which can effectively reduce the incidence rate of fetal neural tube defects.

关 键 词：叶酸 基因检测 胎儿神经管畸形 

分 类 号：R715.5[医药卫生—妇产科学]