What is CF?
Defective CFTR channel producing thick mucus.
Symptoms
Recurrent lung infections, pancreatic insufficiency, growth failure.
Genetic causes
CFTR gene mutations.
Inheritance pattern
Autosomal recessive.
Important genes
CFTR.
Who should be tested?
Couples before pregnancy and relatives of affected patients.
Recommended tests
CFTR sequencing, MLPA.
Counseling
PGT-M and reproductive risk counseling.