<p><b>OBJECTIVE</b>To evaluate a microarray-based
mutation screening method for genetic
deafness and its application in
prenatal diagnosis.</p><p><b>
METHODS</b>
Mutation screening of common
deafness genes was performed in
pregnant women and
volunteers spouses. Nine common
mutations in four major
deafness genes, GJB2, GJB3, SLC26A4 and mitochondrial 12S rRNA, were detected simultaneously by a microarray-based
method.
Genetic counseling was given based on their testing results.</p><p><b>RESULTS</b>5.11% of
pregnant women carried at least one
mutation. Among them, seven carried
mutation in the
mitochondria 12S
rRNA gene and were offered
aminoglycoside-induced
ototoxicity warning. For other
mutation carriers of GJB2 or SLC26A4
genes, additional
mutation screening was performed in their
husbands by direct sequencing. A total of 20
couples were at
risk of giving
birth to
children with genetic
deafness. Of five
couples who selected to undergo prenatal
diagnostic testing of the
fetus, four were diagnosed as wild type or heterozygous for the tested
genes and one as p.V37I/c.235delC compound heterozygous for GJB2.</p><p><b>CONCLUSIONS</b>
DNA microarray is a quick, easy and reliable
method to screen
mutations in genetic
deafness genes. Application of this
method in
prenatal screening and
diagnosis might effectively reduce the occurrence of genetic
deafness.</p>