PCR Noninvasive prenatal diagnosis method for autosomal recessive disease using picodrolet digital PCR and kit therefor

摘要

The present invention relates to a method for noninvasive prenatal diagnosis of autosomal recessive diseases using picofaramic digital PCR and a kit therefor. According to the method and kit according to one aspect, there is no risk to the fetus and the mother, and it is possible to diagnose the autosomal recessive disease of the fetus non-invasively accurately at the early stage of the pregnancy.