血浆同型半胱氨酸水平与不同类型出生缺陷发生相关性以及产前诊断中的应用价值

Plasma homocysteine correlation with different types of birth defects,and the value of prenatal diagnosis

目的探究血浆同型半胱氨酸水平(homocysteine,Hcy)与不同类型出生缺陷发生相关性以及产前诊断中的应用价值。方法选取2009年6月到2017年6月我见我院产前筛查及产前诊断出生缺陷的112例孕妇及120例胎儿健康无畸形孕妇作为研究对象,前者112例作为病例组,后者120例作为对照组,将病例组根据出生缺陷类型进行分组,神经管畸形、先天性心脏畸形、唇腭裂、其他畸形分别作为A组(n=35)、B组(n=45)、C组(n=10)、D组(n=22),检测全部入选研究对象Hcy水平,观察Hcy与各种出生缺陷的相关性。结果病例组整体Hcy水平(13.69±3.89)μmol/L及各亚组均显著高于对照组(6.69±2.54)μmol/L,对比具有显著差异(P<0.05)。其中,A组神经管畸形Hcy水平(29.68±6.74)μmol/L均显著高于其他3亚组(B组、C组、D组);B组、C组、D组3组对比无显著差异(P>0.05)。孕妇与胎儿脐血血浆Hcy水平呈正相关(r=0.884,P=0.016<0.05)。病例组唐氏筛查高风险率及TORCH阳性率均显著高于对照组,对比具有显著差异(P<0.05),病例组与对照组在糖耐量对比方面无显著差异(P>0.05)。结论孕妇血浆高Hcy水平是出生缺陷的危险因素,因此可将该指标作为产前筛查出生缺陷的重要指标,并且可预测脐血血浆Hcy水平。

Objective：To explore the plasma homocysteine levels（homocysteine,Hcy）with different types of birth defects in the correlation and the value of prenatal diagnosis. Methods：In June 2009 to June 2017 I saw our birth defects in prenatal screening and prenatal diagnosis of 112 cases,112 cases of pregnant women and fetal health without abnormal pregnant women as the research object,the former 112 cases as group,120 cases as control group,the case group to group,depending on the type of birth defect neural tube defects,congenital cardiac abnormalities,cleft lip and palate,other malformations separately as A group（n=35）and group B（n=45）and group C（n=10）,group D（n=22）,to detect all selected research object Hcy levels,to observe the correlation between Hcy and various birth defects. Results：The total Hcy level of the case group（13.69 ± 3.89）was significantly higher than that in the control group（6.69 ± 2.54）,and the contrast was significantly different（P〈0.05）. Among them,the Hcy level of neural tube malformation in group A was significantly higher than that of other sanya groups（group B,group C,group D）. There was no significant difference between group B,group C and group D（P〈0.05）.Maternal and fetal umbilical cord blood plasma Hcy level was positively correlated（r=0.884,P=0.016〈0.05）. Cases of down syndrome screening high-risk group rate and TORCH positive rate were significantly higher than that of control group,compared with significant difference（P〈0.05）,the case group and control group had no significant differences in glucose tolerance contrast（P〉0.05）. Conclusion：The high Hcy level in pregnant women is a risk factor for birth defects,so it can be used as an important indicator for prenatal screening of birth defects and can be used to predict the plasma Hcy level of cord blood.