遗传优生计算机咨询、诊断系统(2·0版)的研制

Study of "Consulting and Diagnostic Computer System on Heredity and Aristogenesis(2.0)"

目的:运用科学手段对遗传疾病进行咨询和诊断是有效防止遗传患者、家系成员、致病基因携带者生出患儿或再生患儿的可靠方法。方法:利用遗传优生计算机咨询、诊断系统数字化诊断、存储与处理等功能,对疾病性状进行合理打分(计算性状对疾病的贡献率,分析数据进行打分)。通过输入求治者症状和体征的描述资料,可根据提示的相关疾病中得分的高低,作为诊断的参考依据,特别对再发风险估计予以合理解释。结果:本系统在省内外计划生育服务站和卫生部门应用,反馈效果很好。收集和储藏700余种遗传病和1100余幅病例照片,丰富咨询与诊断的参考依据。结论:本系统适用于计生和卫生部门,特别是对基层医师在出生缺陷诊断和预防方面提供了科学的技术支持和实用有效的工具。

Objective： Adoption of scientific methods to consult and diagnose illness is available to prevent patients suffering from genetic diseases, members of family tree and carriers from bearing sick infants and again. Methods ： Supportive functions such as digital diagnosis, memory and handling etc. of ＂Consulting and Diagnostic Computer System on Heredity and Aristogenesis＂ were applied to mark the character of sickness rationally（ to analyse calculation of character contribution rate towards illness and mark）. By inputting the symptom and physical sign of patients, mark of relevant diseases displaying on the screen is regarded as the basis for diagnosis, especially for the reasonable explanation for estimation of recurrence risk. Results ： This system applied in various service stations for family planning in and out of the province achieves great feedback. More than 700 kinds of disease and 1,100 case photos have been collected to enrich the basis for consultation and diagnosis. Conclusion ： This system is suitable for family planning and health sectors, and can provide scientific and technological support particularly as a convenient and practical method to physicians at the basic level on the aspect of diagnosis and prevention for birth defect.