[Prenatal screening and diagnosis of genetic deafness by microarray]

Area of Science:

• Genetics
• Molecular Biology
• Audiology

Background:

• Genetic factors are a significant cause of congenital deafness.
• Accurate and efficient mutation screening is crucial for genetic counseling and prenatal diagnosis.
• Existing methods for detecting deafness-related gene mutations can be time-consuming and complex.

Purpose of the Study:

• To assess the efficacy of a microarray-based method for screening common genetic deafness mutations.
• To evaluate the utility of this microarray technique in prenatal diagnosis.
• To provide genetic counseling based on mutation screening results.

Main Methods:

• A microarray platform was employed to simultaneously detect nine common mutations in four major deafness genes: GJB2, GJB3, SLC26A4, and mitochondrial 12S rRNA.
• Mutation screening was conducted on pregnant women and their spouses.
• Genetic counseling was provided, and further direct sequencing was performed for specific gene mutations (GJB2, SLC26A4) in male partners.

Main Results:

• 5.11% of pregnant women screened were identified as mutation carriers.
• Seven carriers of mitochondrial 12S rRNA mutations received warnings regarding aminoglycoside-induced ototoxicity.
• Twenty couples were identified as being at risk for having children with genetic deafness, with one couple's fetus diagnosed with compound heterozygous GJB2 mutations.

Conclusions:

• DNA microarray technology offers a rapid, user-friendly, and dependable approach for screening genetic deafness mutations.
• Implementing this microarray method for prenatal screening and diagnosis holds promise for effectively decreasing the prevalence of genetic deafness.