基因检测指导个体化叶酸补充预防新生儿缺陷性疾病效果  

The effect of individualized folic acid supplementation guided by genetic detection for preventing of neonatal deficient diseases

作　　者：折开娥[1] 张莉莉[1] 张凌燕[1] SHE Kaie;ZHANG Lili;ZHANG Lingyan(Shaanxi Provincial People's Hospital, Xi 'an, Shaanxi Province, 710068)

机构地区：[1]陕西省人民医院,西安710068

出　　处：《中国计划生育学杂志》2020年第8期1254-1257,共4页Chinese Journal of Family Planning

基　　金：陕西省西安市卫生计生委(J201602018)。

摘　　要：目的:探讨亚甲基四氢叶酸还原酶(MTHFR)、甲硫氨酸合成还原酶(MTRR)基因检测指导个体化补充叶酸预防新生儿缺陷性疾病的临床价值。方法:选择2015年1月—2018年10月4621例于本院优生优育门诊咨询计划妊娠的育龄妇女,根据自愿原则分为两组,观察组(2745例)妊娠前采集静脉血检测MTHFR C677T、A1298C位点、MTRR A66G位点基因多态性,根据基因突变情况评估叶酸利用能力风险等级,并给予个性化叶酸补充指导;对照组(1876例)采用传统叶酸补充方式。观察两组新生儿缺陷性疾病、不良妊娠结局发生情况。结果:观察组MTRR A66G位点基因分型、等位基因与中国常模比较无差异,2745例叶酸利用能力正常549例(20.0%),略差247例(9.0%),较差823例(30.0%),很差1126例(41.0%);获得随访4431例(96.0%),观察组妊娠后(2732例)发生自然流产(0.11%)、早产(0.15%)、21-三体(0.09%)、神经管畸形(0.09%)、唇腭裂(0.09%)、胎儿生长发育受限(0.06%)、先心病发生率(0.09%)均低于对照组(P<0.05)。结论:MTHFR C→T检测指导个体化补充叶酸可降低新生儿缺陷性疾病的发生,提高出生人口质量。Objective:To investigate the clinical value of individualized folic acid supplementation guided by methylene tetrahydrofolate reductase(MTHFR)and methionine synthetic reductase(MTRR)gene detection for preventing of neonatal deficient diseases.Methods:From January 2015 to October 2018,4621 women of childbearing age who wanted to pregnancy were selected and were divided into two groups according to the voluntary principle.Among them,2745 women in observation group had received personalized folic acid supplementation guidance based on their folate utilization capacity risk grade assessed by the detection results of MTHFR C677T locus,A1298C locus,and MTRR A66G locus gene polymorphism after venous blood collected before pregnancy.And 1876 women in the control group were given traditional folic acid supplement.The incidence of neonatal deficient diseases and adverse pregnancy outcomes of women in both groups were observed.Results:The genotypes and alleles of MTRR A66G locus of women in the observation group had no significant different from those of Chinese norm.Among the women in the observation group,549(20.0%)women had normal folic acid utilization ability,while 247(9.0%)women had less folic acid utilization ability,823(30.0%)women had poor folic acid utilization ability,and 1126(41.0%)had very poor folic acid utilization ability.4431(96.0%)women had been followed up.2732 women in the observation group had pregnancy,among them,0.11%women with spontaneous abortion,0.15%women with preterm birth,0.09%newborn with 21-trisomorphy,0.09%newborn with neural tube malformation,0.09%newborn with cleft lip and palate,0.06%fetal growth restriction,and 0.09%newborn with congenital heart disease,which were all significant lower than those in the control group(P<0.05).Conclusion:The detection result of MTHFR gene locus C to T mutations of pregnant women can guide individualized supplementation of folic acid for reducing the incidence of neonatal deficient diseases and improving the quality of newborns.

关 键 词：出生缺陷干预 叶酸利用能力风险等级 基因检测 亚甲基四氢叶酸还原酶 甲硫氨酸合成还原酶 个体化叶酸补充 预防效果 

分 类 号：R715.3[医药卫生—妇产科学]