Genetics FAQs

Can PGT-M test for cystic fibrosis?

Yes. Cystic fibrosis is among the most established PGT-M indications, and CF carrier screening is recommended by ACOG for all patients considering pregnancy regardless of ethnicity. CF is recessive โ€” both partners must carry a CFTR gene change for a child to be affected. If you are both carriers, each pregnancy carries a one in four chance of being affected. Two points specific to CF worth raising with your genetic counsellor. Not all CFTR changes cause the same severity. Some combinations produce classic cystic fibrosis; others produce much milder disease, and some cause only male infertility through absence of the vas deferens, with otherwise normal health. The specific variants you and your partner carry determine what an affected child would actually experience, and this should be explained before you decide. The 5T allele is a specific variant worth asking about. It has variable effects and is included in testing for men with absent vas deferens or unexplained obstructive azoospermia. As with SMA, the treatment picture has changed significantly. Modulator therapies have substantially altered outcomes for many people with CF, though effectiveness depends on the specific variants and access varies considerably between countries. Ask what the prognosis looks like now for your specific variant combination, and what is available where you live. The alternatives remain available: prenatal diagnosis with natural conception, donor gametes, or proceeding without testing. A genetic counsellor should present all of them.

Review by Fertility Connect Medical Team Pending

This information is general and does not replace advice from your own clinician.