中孕期胎儿非整倍体染色体病在潍坊地区的流行现状研究

Study onepidemic character of aneuploid chromosomal disordors of midtrimester pregnancy fetus in Weifang area

目的掌握潍坊地区非整倍体染色体病的流行趋势及分布特点,调查分析其影响因素,为胎儿非整倍体染色体病的预防措施提供参考。方法随机抽取潍坊地区15-20+6周的孕妇行中孕期血清学筛查,对筛查高危及具备直接产前诊断指征的共5540例孕妇行羊水细胞培养染色体核型分析,结果为非整倍体染色体者,采用病例对照研究方法,在流行病学调查的基础上,调查父母孕前、孕期危险因素暴露情况等,进一步探讨其影响因素。结果 2009-2011年共行羊水穿刺5540例,胎儿非整倍体染色体病患病率呈逐年上升趋势,且农村高于城镇、男性胎儿高于女性胎儿,年龄≥35岁孕妇组高于35岁以下者,差异有统计学意义(P<0.05)。不同季节的发生率差异无统计学意义(P>0.05)。病例组和对照组在母亲文化程度、父母职业、母亲不良孕产史、父母有害物质接触史方面差异有统计学意义(P<0.05)。结论潍坊地区非整倍体染色体病的发生率呈逐年上升趋势,存在性别和地区差异。其发生可能与父母的职业、母亲年龄及文化程度、母亲不良孕产史、有害物质接触史有关。

Objictive： Prenatal diagnosis during mid- term pregnancy to evaluate the epidemic trends and distribution characteristics of aneuploid chromosomal disordors in Weifang,analyze the risk faetors of aneuploid chromosomal disordors,so as to propose appropriate early interventions. Methods： 69250 women at 15- 20 weeks gestation were collected who were screened by maternal serum AFP and β- hCG using the time resolved fluoroimmunoassay（ TRFIA） in years between 2009- 2011 in weifang. Then the screened high- risk women were diagnosed by amniocentesis,cell culture and chromosome analyses. To analyze the risk fators of aneuploid chromosomal disordors by using the self- made questionaire. After the pilot survey,standardized demographic and periconceptional exposure data were collected from their parents. Results： 101 aneuploid chromosome were diagnosed by amniotic fluid chromosome analyses of 5540 high- risk women from 2009 to 2011. The rate of prenatal diagnosis shows an upward trend.（ 2） The prenatal diagnosis rate of aneuploid chromosome among rural area,male fetus and the group aged more than 35 years was higher than that of urban area, female fetus and the group of aged less more 35 years,the difference of which was statistically significant. There was seasonal variation in the incidence of aneuploid chromosome,which was not statistically significant. the differences of case group and crontrol group in parents＇ profession,parents＇ smoking history,maternal spontaneous abortion history and parents＇ history of exposure to hazardous substances were statistically significant. Conclusions： The prenatal diagnosis of aneuploid chromosomal disordors in Weifang shows an upward trend,which also presents diferences in gender,area and maternal. The possibly influential factors of ploid chromosomal disordors are parents＇ profession,maternal age,maternal spontaneous abortion history and exposure to hazardous substances.