个体化补充叶酸预防新生儿缺陷性疾病的临床观察

doi:10.3969/j.issn.10073205.2017.05.015

河北医科大学学报

个体化补充叶酸预防新生儿缺陷性疾病的临床观察

1.石家庄医学高等专科学校药理教研室，河北石家庄 050000；2.河北省丰宁满族自治县计划生育技术服务站，
河北丰宁 068350；3.河北省人民医院优生优育科，河北石家庄 050051；
4.河北医科大学第二医院妇科，河北石家庄 050000

出版日期:2017-05-25 发布日期:2017-05-23
作者简介:魏海青(1970-)，女，河北迁安人，石家庄医学高等专科学校副教授，医学硕士，健康管理学博士，从事药理学及健康管理学研究。
基金资助:
河北省医学科学研究重点课题（ZL20140314）

Clinical observation of individualized folic acid supplementation in the prevention of neonatal diseases

1.Department of Pharmacology， Shijiazhuang Medical College, Shijiazhuang 050000, China；
2.The Family Planning Technical Service Station, Manchu Autonomous County of Fengning,
Hebei Province， Fengning 068350, China； 3.Department of Eugenics, Hebei General
Hospital, Shijiazhuang 050051, China; 4.Department of Gynecology, the Second
Hospital of Hebei Medical University, Shijiazhuang 050000, China

Online:2017-05-25 Published:2017-05-23

摘要/Abstract

摘要： ［摘要］〓
〖HTH〗目的〖HTSS〗〖KG*2〗探讨不同叶酸利用能力的孕妇在孕期个体化补充叶酸后对新生儿缺陷性疾病的影响。
〖HTH〗方法〖HTSS〗〖KG*2〗从婚前检查并有生育准备的4 896例孕龄妇女中，挑选1 416例自愿进行叶酸利用能力基因检测的孕妇作为观察组，采用TaqmanMGB技术，对5，10亚甲基四氢叶酸还原酶（methylenetetrahydrofolate reductase，MTHFR）的A1298C、C677T 2个基因位点和甲硫氨酸合成还原酶（methionine synthase reductase,MTRR）A66G基因位点的基因型进行检测，并根据以上各基因位点功能、纯合、野生及出现频率进行分析。将叶酸利用能力基因检测结果分级（正常、略差、较差、很差），从中选取检测结果较差和很差的孕妇，对其个体化口服补充叶酸并定期产检；选择1 416例同期进行定期产检但没有接受叶酸利用能力基因检测的孕妇作为对照组，按照400 μg/d的剂量常规口服补充叶酸并定期产检。分别记录以上2组孕妇的新生儿神经管缺陷性疾病（脊柱裂、无脑儿、脑膨出、脑脊髓膜膨出、唇裂、腭裂）发生情况。
〖HTH〗结果〖HTSS〗〖KG*2〗①观察组MTHFR 2位点基因型和等位基因与中国人群基因型和等位基因分布差异无统计学意义(P＞005)；MTRR位点基因型和等位基因与中国人群基因型和等位基因分布差异有统计学意义(P＜005)。②观察组叶酸利用能力基因检测存在风险比例达到72.46%。③观察组孕妇生产的新生儿神经管缺陷性疾病发生率明显低于对照组(P＜005) 。
〖HTH〗结论〖HTSS〗〖KG*2〗采集样本区域育龄妇女叶酸利用能力风险比例超过半数，针对不同孕妇制定不同的叶酸剂量补充方案可以有效降低新生儿神经管缺陷性疾病的发生率。

关键词: 神经管缺损, 叶酸缺乏, 新生儿

Abstract: ［Abstract］ Objective〖HTSS〗〓To investigate the effect of folic acid supplementation during pregnancy on the newborn infants with neural tube defects diseases.
〖HTH〗〖WTHZ〗Methods〖HTSS〗〓Among 4 896 pregnant women who had been examined before marriage and were prepared for childbearing, a total of 1 416 pregnant women as the observation group were selected for gene testing, Using TaqmanMGB technology, genotype were performed in 5, 10methylenetetrahydrofolate reductase(MTHFR) A1298C and C677T gene loci and methionine synthase reductase(MTRR) A66G gene loci. According to the above gene function, homozygous, wild and frequency were analyzed. Ability to use folic acid gene detection was classified(normal, slightly poor, poor and very poor). Poor and very poor pregnant women were selected for individual oral folic acid supplementation and regular antenatal examination. A total of 1 416 pregnant women cases was defined as the control group, who did not receive folic acid by gene detection, only in accordance with the dose conventional oral folic acid 400 g/day and regular antenatal examination. Newborn neural tube defect disease(spina bifida and anencephaly, encephalocele, meningocele, incidence of cleft lip and palate) of 2 groups were recorded.
〖HTH〗〖WTHZ〗Results〖HTSS〗〓①There was no significant difference in genotype and allele distribution in MTHFR two gene loci in the observation group and the Chinese population in the observation group(P＞005). There was significant difference in genotype and allele distribution in. MTRR gene loci in the observation group and the Chinese population in the observation group(P＜005). ②The ratio of folic acid utilization ability to detect gene was 72.46% in the observation group . ③The incidence rate of neural tube defects in pregnant women in the observation group was significantly lower than that of observation group(P＜005).
〖HTH〗〖WTHZ〗Conclusion〖HTSS〗〓More than half of the folic acid utilization ability of women of childbearing age in the sample area was collected, and different folic acid supplementation scheme could effectively reduce the incidence of neural tube defects.

Key words: neural tube defects, folic acid deficiency, neonate

魏海青1，徐新磊2，王方娜3，杜洁贤4*. 个体化补充叶酸预防新生儿缺陷性疾病的临床观察[J]. 河北医科大学学报, doi: 10.3969/j.issn.10073205.2017.05.015.

WEI Haiqing1， XU Xinlei2， WANG Fangna3， DU Jiexian4*. Clinical observation of individualized folic acid supplementation in the prevention of neonatal diseases[J]. Journal of Hebei Medical University, doi: 10.3969/j.issn.10073205.2017.05.015.

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个体化补充叶酸预防新生儿缺陷性疾病的临床观察

Clinical observation of individualized folic acid supplementation in the prevention of neonatal diseases

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