人脸识别技术在遗传综合征诊断中的应用

Application of human face recognition technology in genetic syndrome diagnosis

遗传综合征作为因遗传因素异常引起的畸形综合征,常伴颅面畸形的表现,同一种综合征患儿常具有相似面容,如唐氏综合征等。随着人工智能在医疗领域的应用,人脸识别技术已初步应用于唐氏综合征、德朗热综合征、22q11.2微缺失综合征和怒南综合征等疾病的诊断,取得一定成果,且近年研究表明其对综合征识别的正确率往往高于临床工作者的经验性诊断。未来,人脸识别技术有望广泛运用于遗传综合征的筛查、辅助诊断及科学研究。

Genetic syndromes often involve craniofacial malformations, and certain syndromes are associated with a specific facial pattern such as Down syndrome.With the development of artificial intelligence in the medical field, face recognition technology has been successfully applied in the diagnosis of genetic syndrome, such as Down syndrome, Cornelia de Lange syndrome, 22q11.2 deletion syndrome and Noonan syndrome.Some reports suggested that the detection rates of face recognition technology are higher than clinical specialists.In the future, face recognition technology is expected to be applied in the screening of and genetic syndromes, to help the diagnosis and to be applied in scientific research.