叶酸代谢障碍与出生缺陷的关系探讨  

Study on the relationship between folic acid metabolic disorder and birth defects

作　　者：尹保民[1] 杨小红[1] 曾淑兰[1] YIN Bao-min YANG Xiao- hong ZENG Shu-lan.(Zhuhai Maternal and Child Health Care Hospital, Zhuhai, Guangdong 519000, China)

机构地区：[1]珠海市妇幼保健院产科,广东珠海519000

出　　处：《中国优生与遗传杂志》2017年第10期75-77,共3页Chinese Journal of Birth Health & Heredity

基　　金：珠海市医疗卫生科技计划项目;项目编号:(2015B1032)

摘　　要：目的通过对孕前及孕早期女性进行叶酸代谢障碍检测评估,探讨叶酸代谢障碍与出生缺陷的关系。方法以珠海市妇幼保健院2015年1月至2016年11月因各种畸形终止妊娠305例作为观察组,抽取同期孕前及孕早期妇女300例作为对照组,采用Taqman-MGB技术检测MTHFR C677T、A1298C及MTRRA66G基因多态性来评估叶酸代谢障碍程度,跟踪收集观察对象住院分娩记录及新生儿的相关信息,并对不良妊娠结局病例进行统计分析。结果 (1)两组在染色体异常(χ~2=80.042,P=0.000)、地贫(χ~2=52.444,P=0.000)、唇腭裂(χ~2=18.528,P=0.000)、先天愚型(χ~2=8.087,P=0.004)、心脏畸形(χ~2=17.486,P=0.000)、多发畸形(χ~2=6.966,P=0.008)、泌尿系统畸形(χ~2=7.947,P=0.005)、肢体畸形(χ~2=4.959,P=0.000)、其他畸形(χ~2=72.729,P=0.000)比较差异具有统计学意义(P均<0.05);(2)两组妊娠期贫血发生率比较(χ~2=62.675,P=0.000)、妊娠期高血压发生率比较(χ~2=33.620,P=0.000)差异具有统计学意义(P均<0.05),妊娠期糖尿病发生率比较(χ~2=1.198,P=0.274)差异无统计学意义(P>0.05)。结论 (1)叶酸代谢障碍与染色体异常、地贫、唇腭裂、先天愚型、心脏畸形、多发畸形、泌尿系统畸形、肢体畸形具有相关性;(2)叶酸代谢障碍与妊娠期贫血、妊娠期高血压的发生具有相关性。Objective：To explore the relationship between folic acid metabolic disorder and birth defects by evaluating the folic acid metabolic disorder in pregnant and early pregnant women. Methods：A total of 305 cases of pregnancy due to various deformities from January 2015 to November 2016 in Zhuhai Maternal and Child Health Hospital as the observation group. 300 cases of pregnant women during pregnancy and early pregnancy were taken as control group,The polymorphisms of MTHFR C677 T,A1298 C and MTRRA66 G were used to evaluate the degree of metabolic disorders of folic acid. The information of hospitalized births and neonates were collected and analyzed,and the cases of adverse pregnancy outcome were analyzed statistically. Results：（1） There were significant differences between the two groups in chromosomal abnormalities（χ^2=80.042,P=0.000）,thalassemia（χ^2=52.444,P=0.000）,cleft lip and palate（χ^2=18.528,P=0.000）,congenital deficiency type（χ^2=8.087,P=0.004）,malformations（χ^2=17.486,P=0.000）,multiple malformations（χ^2=6.966,P=0.008）,abnormalities of urinary system（χ^2=7.947,P= 0.005）,limb deformity（χ^2=4.959,P=0.000）and other malformations（χ^2=72.729,P=0.000）（P〈0.05）;（2） The incidence of anemia（χ^2=62.675,P=0.000）and the incidence of hypertensive pregnancy during pregnancy（χ^2=33.620,P=0.000）were statistically significant（P〈0.05）,The incidence of gestational diabetes mellitus（χ^2= 1.198,P=0.274）was not statistically significant（P〉0.05）. Conclusion：（1） folic acid metabolic disorders and chromosomal abnormalities,thalassemia,cleft lip and palate,Down＇s syndrome,cardiac malformations,multiple malformations,urinary system deformities,limb deformity is associated;（2） folic acid metabolic disorders and gestational anemia,pregnancy,the occurrence of hypertension has a correlation.

关 键 词：基因多态性 叶酸 代谢障碍 出生缺陷 妊娠结局 

分 类 号：R174[医药卫生—妇幼卫生保健]