扩展性携带者筛查的应用与挑战

Applications and Challenges of Expanded Carrier Screening

携带者筛查是一种是将人群中具有风险基因型的个体检测出来的手段,即当某种遗传病在某一群体中发病率较高,为预防该病在该群体中的发生,可采用的经济、准确可靠的方法。其利用基因检测技术,检测更多常染色体疾病以及X-连锁隐性遗传病。携带者筛查目前存在诸多争议,但近年来辅助生殖技术的发展及应用,携带者筛查这一技术的普及对于患者来说,意义重大。本文就携带者筛查的发展、临床诊疗意义及所面临的伦理挑战进行综述。

Carrier screening is a method to detect individuals with risk genotypes in the population. When a certain genetic disease has a high incidence in a certain group, it is an economical, accurate and re-liable method to prevent the occurrence of the disease in this group. Expanded carrier screening utilizes the latest genetic testing technology to detect more autosomal disorders as well as X-linked recessive disorders. There are many controversies in carrier screening. Due to the development and application of assisted reproductive technology in recent years, the popularization of carrier screening is of great significance to patients. This article reviews the development, clinical signifi-cance and ethical challenges of carrier screening.