When should expanded carrier screening be offered?
[Tier B — no verified society position on expanded carrier screening in hand] What is verified, from AUA/ASRM (2021): CFTR mutation carrier testing including assessment of the 5T allele should be recommended in men with vasal agenesis or idiopathic obstructive azoospermia (Expert Opinion). Where a man harbours a CFTR mutation, genetic evaluation of the female partner should be recommended (Expert Opinion). Beyond that specific indication, expanded carrier screening is offered on a spectrum from targeted ancestry-based panels to several hundred conditions, and society positions differ on how broad a panel is appropriate. I have not verified a current position and am not going to assert one. Considerations that apply regardless of panel breadth: Consanguinity substantially raises the value of screening and is common in parts of India. Ancestry-specific conditions matter — thalassaemia and other haemoglobinopathies have particular relevance in the Indian context, and screening for them is well established independent of any expanded panel. Both partners must be screened for the result to be actionable; screening one partner alone has limited value. Pre-test counselling should cover what a positive result would mean in practice — PGT-M, prenatal diagnosis, donor gametes, or accepting the risk. Variants of uncertain significance rise with panel size and are a genuine harm of broader screening. Reviewer: the panel your unit offers, and the counselling pathway attached to it, should be stated here explicitly. This answer describes principles because I could not verify a recommendation.
Review by Fertility Connect Medical Team Pending
This information is general and does not replace advice from your own clinician.