非综合征性唇腭裂胎儿的影响因素分析

Analysis of influencing factors of 120 fetuses with nonsyndromic cleft lip with or without cleft palate

目的探究非综合征性唇腭裂发生的危险因素,为唇腭裂的防治提供参考依据。方法选择120例超声筛查出的非综合征性唇腭裂胎儿(观察组)和120例非唇腭裂胎儿(对照组)为研究对象,对可能导致唇腭裂发生的5项因素(孕妇孕早期不良接触史、感染史、用药史、孕妇叶酸服用不足、唇腭裂家族史)进行问卷调查;采用荧光定量PCR方法检测MTHFR基因C677T基因型;对上述因素进行Logsitic回归分析。结果单因素分析:观察组孕早期不良接触史、感染史、用药史、叶酸服用、唇腭裂家族史和MTHFR基因多态性方面与对照组比较,差异有统计学意义(均P<0.05);多因素分析:孕早期不良接触史、感染史、用药史、孕妇叶酸服用不足、唇腭裂家族史和MTHFR基因多态性是非综合征型唇腭裂发生的危险因素(均P<0.05);孕早期感染、叶酸服用不足、唇腭裂家族史和MTHFR基因突变的人群归因危险度依次为39.0%、50.5%、46.4%、40.7%。结论孕妇孕早期不良接触史、感染史、用药史、孕妇叶酸服用不足、唇腭裂家族史、MTHFR基因突变是非综合征性唇腭裂发生的危险因素。

Objective To explore the risk factors of non-syndromic cleft lip and palate and provide reference for the prevention and treatment of cleft lip and palate. Methods One hundred and twenty cases of non-syndromic cleft lip and palate（observation group） and 120 cases of non-cleft lip and palate（control group） were selected for the study. There were five factors that may lead to the occurrence of cleft lip and palate（pregnant women during pregnancy）. The history of exposure history,history of infection,medication history,insufficient folic acid intake in pregnant women,family history of cleft lip and palate were investigated by questionnaires; the C677T genotype of MTHFR gene was detected by fluorescent quantitative PCR; the above factors were analyzed by Logsitic regression. Results Univariate analysis： there were statistically significant differences between the observation group and the control group in terms of adverse exposure history,infection history,medication history,folic acid intake,cleft lip and palate family history,and MTHFR gene polymorphism in the first trimester（P〈0. 05）. Multivariate analysis： the history of adverse pregnancy exposure,history of infection,medication history,insufficient folic acid intake in pregnant women,family history of cleft lip and palate,and polymorphisms of MTHFR gene were risk factors for the development of non-syndromic cleft lip and palate（P〈0. 05）. The population attributable risk of infection,insufficient folic acid intake,cleft lip and palate family history, and MTHFR gene mutation were 39. 0%, 50. 5%, 46. 4%, and 40. 7%, respectively.Conclusion The history of adverse pregnancy exposure,history of infection,medication history,insufficient folic acid use in pregnant women,family history of cleft lip and palate,and MTHFR gene mutation are risk factors for the development of non-syndromic cleft lip and palate.