医学细胞遗传学检测技术在妇幼保健领域的应用分析

Application analysis of medical cytogenetic testing technology in maternal and child health care

目的探讨医学细胞遗传学检测技术在妇幼保健领域中的应用。方法选取2017年4月至2019年9月本院收治的妇幼保健领域疑似遗传性疾病103例作为研究对象,所有患者入院后完善相关检查,且患者均给予医学细胞遗传学检测技术进行检测,分析患者遗传学疾病类型及构成比。结果 103例患者中医学细胞遗传检测技术最终确诊34例,确诊率为33.01%。疑似遗传疾病前2位的分别为染色体病、单基因病,构成比分别为38.24%、29.41%;13例染色体病患者中染色体结构畸变前2位的分别为染色体重复、染色体缺失,构成比分别为30.77%、14.71%。结论医学细胞遗传学检测技术用于妇幼保健领域中效果理想,能实现遗传性疾病的诊断,能为临床诊疗提供依据和参考,值得推广应用。

Objective To explore the application of medical cytogenetic detection technology in maternal and child health care. Methods From April 2017 to September 2019, 103 patients with suspected genetic diseases in the field of maternal and child health care were selected as study subjects. All patients were examined after admission, and tested with medical cytogenetic testing technology to analyze the type and composition of genetic diseases in patients. Results All 103 cases of patients, 34 patients with suspected genetic diseases were finally diagnosed by TCM cell genetic testing, with diagnosis rate of 33.01%. The top two suspected genetic diseases were chromosomal diseases and single-gene diseases, accounting for38.24% and 29.41% respectively. In the 13 cases of chromosomal disease, chromosomal structural aberrations ranked in the first two places: chromosome duplication and chromosome deletion, accounting for 30.77% and 14.71%, respectively. Conclusion The medical cytogenetic testing technology has an ideal effect in the field of maternal and child health care, which can realize the diagnosis of hereditary diseases and provide basis and reference for clinical diagnosis and treatment.