Detection of Fetal Single Gene Mutations through Targeted Sequencing of Maternal cell-free DNA

Non-invasive prenatal tests are available for chromosomal aneuploidy but not for monogenic diseases yet. This study aimed to develop analysis method for detecting fetal mutation status by using only maternal blood sample. We introduce two different approaches to detect a fetal mutation of the Duchene Muscular Dystrophy (DMD) gene. The algorithms are consisted of two steps: detection of mutation types and regions and determination of fetal mutation status. For the second step, one approach uses allele frequencies of heterozygous sites and the other approach uses relative read depth that is the read depths of cfDNA divided by gDNA of the mother.