Can PGT-M test for thalassemia?
Yes. Thalassaemia is one of the conditions PGT-M is most commonly used for, and in India it is among the most frequent indications. How it works: your specific gene changes are identified first, a test is designed around them, and embryos are then tested so that unaffected ones can be selected for transfer. Something important that comes first, though. ACOG recommends that all patients considering pregnancy โ regardless of ethnicity โ be offered a complete blood count and screening for thalassaemias and haemoglobinopathies. If you are reading this before knowing your carrier status, that screening is the starting point. A caution ACOG raises specifically about beta-thalassaemia: the testing method used on some expanded carrier panels may not be the most sensitive method of carrier detection, and ancillary screening should be considered. A negative result on a general panel does not necessarily exclude carrier status. In an Indian population this matters โ ask whether haemoglobin electrophoresis or HPLC was done alongside any gene panel. If both of you are carriers, PGT-M is one option. Others include prenatal diagnosis with natural conception, donor gametes, and accepting the risk. Which fits depends on your circumstances, and a genetic counsellor should present all of them. Note that PGT-M can be combined with HLA typing where an existing affected child might benefit from a stem cell transplant from a sibling โ but this substantially reduces the number of transferable embryos and needs specific counselling.
Sources
- ACOG Committee Opinion 690 / ACMG position statement โ carrier screening
Review by Fertility Connect Medical Team Pending
This information is general and does not replace advice from your own clinician.