基于叶酸代谢基因多态性指导孕期叶酸补充方式对新生儿出生缺陷发生率的影响分析  

Analysis of the impact of folic acid metabolism gene polymorphism-guided folic acid supplementation during pregnancy on the incidence of birth defects in newborns

作　　者：戴亮 高桂珍 李敏 赵婧[1] Dai Liang;Gao Guizhen;Li Min;Zhao Jing(Department of Neonatology,Affiliated Hospital of North Sichuan Medical College,Nanchong Sichuan 637000,China;Department of Neonatology,Langzhong People's Hospital,Langzhong Sichuan 637400,China)

机构地区：[1]川北医学院附属医院新生儿科,四川南充637000 [2]四川省阆中市人民医院新生儿科,四川阆中637400

出　　处：《保健医学研究与实践》2024年第10期19-24,共6页Health Medicine Research and Practice

基　　金：四川省医学科研课题(S23002)。

摘　　要：目的探讨基于叶酸基因多态性检测结果指导孕期叶酸补充方式对新生儿出生缺陷发生率的影响,以期为临床上制定孕期叶酸个体化补充方案提供参考。方法回顾性收集2021年8月—2022年8月于四川省某医院建档,定期产检并分娩的216例产妇(研究对象)临床资料。依据叶酸补充方案将研究对象分成对照组(110例)与观察组(106例)。其中对照组研究对象予以常规叶酸补充,观察组研究对象予以基于基因多态性检测结果的叶酸补充。比较2组新生儿的临床特征、出生缺陷发生率及孕妇贫血发生率,并探讨基于基因多态性检测结果叶酸补充前后,观察组孕妇叶酸、同型半胱氨酸(Hcy)水平变化。结果观察组新生儿出生身长、头围及体质量均显著优于对照组,差异均有统计学意义(P<0.05),而2组研究对象的早产发生率差异无统计学意义(P>0.05)。观察组新生儿出生缺陷发生率为0.94%,显著低于对照组的7.27%,差异有统计学意义(P<0.05)。观察组研究对象贫血总发生率为31.13%,显著低于对照组的48.18%,差异有统计学意义(P<0.05)。不同风险等级的观察组研究对象补充叶酸3个月后,其叶酸水平均上升,Hcy水平均降低,差异均有统计学意义(P<0.05)。结论基于叶酸代谢基因多态性孕期叶酸指导的补充有利于减少孕期贫血的发生风险,便于控制叶酸和Hcy水平,可预防新生儿出生缺陷的发生。Objective To explore the impact of folic acid supplementation during pregnancy guided by folic acid gene polymorphism detection results on the incidence of birth defects in newborns,aiming to provide a reference for the development of individualized folic acid supplementation plans during pregnancy clinically.Methods Clinical data of 216 pregnant women(study participants)who were registered,underwent regular prenatal check-ups,and delivered at a hospital in Sichuan Province from August 2021 to August 2022 were retrospectively collected.The study participants were allocated to a control group(110 cases)and an observation group(106 cases)based on the folic acid supplementation plan.The control group received routine folic acid supplementation,while the observation group,folic acid supplementation based on the results of gene polymorphism detection.The clinical characteristics of the newborns,the incidence of birth defects,and the incidence of anemia in pregnant women were compared between the two groups.Additionally,the changes in folic acid and homocysteine(Hcy)levels in pregnant women of the observation group before and after folic acid supplementation based on gene polymorphism detection results were explored.Results The birth length,head circumference,and body weight of newborns in the observation group were significantly better than those in the control group(P<0.05).However,no significant difference was noted in the incidence of preterm birth between the two groups(P>0.05).The incidence of birth defects in newborns of the observation group was significantly lower than that in the control group(0.94%vs.7.27%;P<0.05).The overall incidence of anemia in the observation group was significantly lower than that in the control group(31.13%vs.48.18%;P<0.05).After three months of folic acid supplementation,the folic acid levels of pregnant women in the observation group with different risk levels increased significantly,and the Hcy levels decreased significantly(P<0.05).Conclusion Folic acid supplementation during preg

关 键 词：叶酸 基因多态性 新生儿缺陷 孕妇 贫血 

分 类 号：R173[医药卫生—妇幼卫生保健]