Genetics FAQs

Can PGT-M test for SMA?

Yes. Spinal muscular atrophy is a well-established PGT-M indication. SMA is recessive — both parents must carry a change in the SMN1 gene for a child to be affected. ACOG recommends SMA carrier screening be offered to all patients considering pregnancy or already pregnant, regardless of ethnicity, so many couples discover their carrier status through routine screening rather than through an affected child. One thing worth understanding before deciding: the treatment landscape for SMA has changed substantially. Disease-modifying therapies now exist that were unavailable a decade ago, and outcomes for children diagnosed and treated early are very different from the historical picture. Newborn screening programmes in some countries now identify affected babies before symptoms begin. This does not make PGT-M unreasonable — SMA remains serious, treatments are expensive and not universally available, and many families choose to avoid the risk. But your decision should be informed by what SMA means now rather than by older descriptions, and access to treatment where you live is a legitimate part of that calculation. Ask your genetic counsellor about current treatment options and prognosis, and about carrier testing for your relatives — siblings of carriers have a meaningful chance of being carriers themselves. The alternatives remain: 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.