Detectionofcommondeafnessmutation bymaternalplasmacell-freeDNA

OBJECTIVES : The aim is to in - vestigate the use of the ligase detection reaction (LDR) microarray to examine the difference of the single nucleotide between the pregnant woman and the fetus by cell-free DNA in the ma - ternal plasma in congenital deafness. MATERIALS AND METHODS: The proband and the couples' venous blood samples and the amniotic fluid/ chorionic villi collected from sev - en deafness families for prenatal diagnosis were analyzed. The cell-free DNA from maternal plas - ma was examined to determine if they carried the mutations of GJB2 235delC. RESULTS: Three samples were found to carry the mutation of GJB2 235delC. It is in agreement with the sequencing results.The affected fetuses were suggested to take invasive procedure for confirmation. CONCLUSIONS: The chip may be a potential method to screen for congenital deafness based on maternal plasma DNA.