The design of knowledge-based medical diagnosis system for recognition and classification of dermatoglyphic features

Abstract

Detecting Down's syndrome in newborns at an early stage helps in postnatal elimination or mitigation of negative effects of the resulting birth defects, which untreated may lead to infants' death or disability. This paper introduces an architecture of knowledge-based medical system for diagnosis of Down's syndrome in infants. The expert knowledge required for the design of the system was elicited from the scientific literature describing diagnostic scoring systems developed using statistical methods. The knowledge required for the calculation of diagnostic index score and determination of the genetic disorder presence is represented in the form of expert system rules. The diagnosis is carried out on the basis of results of pattern recognitions and measurements of dermatoglyphic features, which are passed to the expert system allowing determination of the value of diagnostic index score. © 2014 Springer International Publishing Switzerland.