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First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness
Domenico A Coviello1, Bruno Brambati, Lucia Tului
1Laboratorio di Genetica Medica, Istituti Clinici di Perfezionamento, Milan, Italy.
Prenatal Diagnosis
|August 12, 2004
Summary
Prenatal screening for the 35delG GJB2 mutation, a common cause of prelingual deafness, is feasible and acceptable in pregnant women undergoing chorionic villus sampling (CVS). This genetic testing identifies carriers and can inform reproductive decisions.
Area of Science:
- Genetics
- Reproductive Medicine
- Audiology
Background:
- The 35delG mutation in the GJB2 gene is the most frequent genetic cause of congenital, prelingual deafness.
- Early identification of genetic hearing loss is crucial for timely intervention and improved outcomes.
Purpose of the Study:
- To evaluate the prevalence of the 35delG GJB2 mutation in pregnant women undergoing first-trimester chorionic villus sampling (CVS).
- To assess the feasibility and acceptability of prenatal screening for this mutation in this population.
Main Methods:
- DNA analysis was performed on samples from 5786 pregnant women undergoing CVS for chromosomal abnormality investigation.
- Couples were offered GJB2 mutation testing after receiving foetal karyotyping results.
Main Results:
- Of 5449 eligible women, 55.0% opted for 35delG testing.
- A carrier prevalence of 2.23% (1:44.7) was identified.
- Two double heterozygous foetuses were detected, leading to one pregnancy termination.
Conclusions:
- The 35delG mutation is highly prevalent in the Italian population.
- Prenatal screening for GJB2 mutations is feasible and acceptable, even without a prior risk for deafness.
- Integrating 35delG mutation analysis into CVS screening can enhance population-wide genetic testing strategies for congenital hearing loss.