What is the significance of CBAVD in genetic testing for infertility?

• A. CBAVD is unrelated to cystic fibrosis gene mutations
• B. CBAVD is a condition in women
• C. CBAVD is associated with cystic fibrosis gene mutations and warrants CFTR testing
• D. CBAVD always indicates normal fertility

Answer: (C)

CBAVD signals a strong link to mutations in the CFTR gene, which is why CFTR genetic testing is commonly recommended. CBAVD, or congenital bilateral absence of the vas deferens, causes obstructive azoospermia in men seeking infertility treatment. Because CFTR mutations underlie cystic fibrosis and related disorders, many men with CBAVD carry one or more CFTR variants. Testing helps confirm whether CFTR mutations are involved, guides genetic counseling, and informs reproductive planning. If a partner is a CF carrier, there is a real risk that offspring could inherit CF or CFTR-related conditions, influencing options such as assisted reproduction with genetic considerations or donor gametes. While some CBAVD cases may occur without CFTR mutations, the association is strong enough that CFTR testing is warranted. The statement that CBAVD is unrelated to CF mutations, that it’s a female condition, or that it always indicates normal fertility would not fit this context.