孕妇发生胎儿染色体非整倍体疾病妊娠的风险因素研究

The risk factors of fetal chromosome aneuploidy disease in pregnant women

目的探讨孕妇发生胎儿染色体非整倍体疾病妊娠的风险因素,为制订干预措施提供科学依据。方法选取2013年9月至2017年9月重庆华西妇产医院产科门诊就诊的孕妇3 685例,采用无创产前检测判断胎儿是否患有遗传性疾病。对检测结果提示胎儿存在该染色体异常高风险的孕妇再进行羊膜腔穿刺,穿刺液细胞培养后进行胎儿染色体核型分析。采用成组病例对照方法,对被确诊为染色体非整倍体疾病的胎儿父母及同时间就诊且年龄相差不超过5个月的健康儿童的父母进行问卷调查。调查结果采用单因素和多因素Logistic回归模型分析。结果检出胎儿染色体非整倍体疾病高风险孕妇42例,阳性检出率为1.14%(42/3685)。胎儿为21-三体综合征31例,阳性检出率为0.84%(31/3 685);18-三体综合征6例,阳性检出率为0.16%(6/3 685);性染色体异常高风险5例,阳性检出率为0.13%(5/3 685)。孕妇育龄≥35岁、妊娠早期感染(发热、创伤、流血等)、接触化肥及农药、周围环境污染(笨、辐射、噪声、粉尘等)、家庭装修或购买新车家具、母亲美甲为孕妇发生胎儿染色体非整倍体疾病妊娠的风险因素(OR=5.43、7.91、11.85、6.16、6.93、43.97)。结论孕妇育龄≥35岁、妊娠早期感染、接触有害物质、周围环境污染等是孕妇发生胎儿染色体非整倍体疾病妊娠的主要风险因素。

Objective To explore the risk factors of fetal chromosome aneuploidy pregnancy in pregnant women and provide scientific basis for the intervention measures.Methods From September 2013 to September 2017,3 685 pregnant women in a hospital were enrolled in Department of Obstetrics,and the Non-invasive Prenatal Testing（NIPT）was used to determine whether the fetus had inherited diseases.The detection results indicated that the pregnant women with the abnormal high risk of the choromosome had the amniocentesis of the amniotic cavity,fetal karyotype analysis was performed after the culture of puncture liquid cells.By using the method of group case-control was diagnosed with chromosome aneuploidy disease of fetus parents and see a doctor and at the same time not more than five months of age difference questionnaire survey to parents of normal children.The results of the survey were analyzed by single factor and multifactor Logistic regression.Results 42 cases of high-risk pregnant women with chromosome aneuploidy were detected,and the positive detection rate was 1.14%（42/3685）.Among them,31 cases was 21-Trisomy syndrome,and the positive detection rate was 0.84%（31/3685）.There were 6 cases of 18-trisomy syndrome,and the positive detection rate was 0.16%（6/3685）.Sex chromosome at high risk was found in 5 cases,and the positive detection rate was 0.13%（5/3685）.Multifactor Logistic regression showed that Pregnant women′s reproductive age（35 years old）,early pregnancy infection（fever,trauma,bleeding,etc.）,exposure to fertilizers and pesticides,environmental pollution（clumsiness,radiation,noise,dust,etc.）,home decoration or purchase of new car furniture,and mother′s nails were risk factors for pregnant women with fetal chromosomal aneuploidy disease（OR=5.43,7.91,11.85,6.16,6.93,43.97）.Conclusion Pregnant women′s reproductive age（35 years old）,early pregnancy infection,exposure to harmful substances and environmental pollution are the main risk factors for pregnant women with fetal chromosomal aneuploidy.