What preconception testing is recommended regarding cystic fibrosis?

What preconception testing is recommended regarding cystic fibrosis?

• A. Partner tested for the CFTR gene
• B. Mother tested for the CFTR gene
• C. Father tested for CFTR gene only
• D. No genetic testing is recommended

Answer: (A)

Cystic fibrosis is inherited in an autosomal recessive pattern, so preconception counseling focuses on identifying carrier status in both partners to determine the risk to future children. Testing the partner for CFTR gene mutations is the best approach because it directly assesses whether both parents could pass the defective gene to their offspring. If both partners are carriers, each pregnancy has a 25% chance of an affected child, a 50% chance the child will be a carrier, and a 25% chance the child will be neither affected nor a carrier. If only one partner is a carrier, there is no chance of an affected child, but there is a 50% chance the child will be a carrier. If neither partner is a carrier, the risk is very low. Testing the mother alone doesn’t provide a complete risk assessment without the father’s status, and saying no genetic testing is recommended isn’t accurate given the inheritance pattern.

Cystic fibrosis is inherited in an autosomal recessive pattern, so preconception counseling focuses on identifying carrier status in both partners to determine the risk to future children. Testing the partner for CFTR gene mutations is the best approach because it directly assesses whether both parents could pass the defective gene to their offspring. If both partners are carriers, each pregnancy has a 25% chance of an affected child, a 50% chance the child will be a carrier, and a 25% chance the child will be neither affected nor a carrier. If only one partner is a carrier, there is no chance of an affected child, but there is a 50% chance the child will be a carrier. If neither partner is a carrier, the risk is very low. Testing the mother alone doesn’t provide a complete risk assessment without the father’s status, and saying no genetic testing is recommended isn’t accurate given the inheritance pattern.