出生缺陷与遗传病检测领域中基因诊断技术的应用研究  

Application research of gene diagnostic technique in the field of birth defects and genetic diseases detection

作　　者：李颖嫦[1] 黄少珍[1] 罗小娟[1] LI Ying-chang;HUANG Shao-zhen;LUO Xiao-juan(The First People’ s Hospital of Foshan City,Foshan 528000,Chin)

机构地区：[1]佛山市第一人民医院,528000

出　　处：《中国现代药物应用》2018年第14期28-29,共2页Chinese Journal of Modern Drug Application

摘　　要：目的分析基因诊断技术在出生缺陷与遗传病检测领域的应用效果。方法 89例就诊咨询出生缺陷与遗传病后确诊的产妇作为研究对象,所有产妇均经超声检查与基因诊断,比较两种检查方法的诊断结果。结果超声检查检测出67例异常胎儿,确诊率为75.28%,漏诊率为24.72%,诊断符合率为98.51%;基因诊断检测出82例异常胎儿,确诊率达92.13%,漏诊率为7.87%,诊断符合率为100.00%,两种检查方法确诊率比较,差异有统计学意义(P<0.05);两种检查方法诊断符合率比较差异无统计学意义(P>0.05)。结论基因诊断较之超声检查在出生缺陷与遗传病检测中具有更高应用价值,可较为准确的诊断疾病,但两种检测技术侧重点不同,可联合使用,以提高出生缺陷与遗传病患儿诊断率。Objective To analyze the application effect of gene diagnosis technique in the field of birth defects and genetic disease detection. Methods 89 pregnant women who had been diagnosed with birth defects and genetic diseases after consultation were selected as research objects. All parturients were inspected by ultrasound and gene diagnosis. The diagnostic results of the two methods were compared. Results 67 cases of abnormal fetus were detected by ultrasonography, the accuracy rate was 75.28%, the missed diagnosis rate was 24.72%, and the diagnostic coincidence rate was 98.51%. 82 cases of abnormal fetuses were detected by gene diagnosis. The diagnosis rate was 92.13%, the missed diagnosis rate was 7.87%, and the diagnostic coincidence rate was 100.00%. There were significant differences between the two methods in diagnosis rate（P〈0.05）. There was no significant difference in diagnostic coincidence rate between the two methods（P〈0.05）. Conclusion Genetic diagnosis is more valuable than ultrasonic diagnosis in the detection of birth defects and genetic diseases, which can diagnose the disease more accurately. However, the two detection techniques have different focuses and can be used in combination to improve the diagnosis rate of birth defects and genetic diseases.

关 键 词：出生缺陷 遗传病 基因诊断技术 超声诊断 

分 类 号：R440[医药卫生—诊断学] R714.5[医药卫生—临床医学]