Spinal Muscular Atrophy Testing
This story is just tragic…and avoidable. Don’t worry my lovely patients, I have been doing all I can to prevent this happening to one of you. For years now, ever since the SMA test was available as a commercial test (no Medicare rebate), I have offered this test to every pregnant, post natal and would-be pregnant patients that I know may be considering a family in the future. If you have had the Cystic Fibrosis and Fragile X screening test then be reassured you have also had this test. Review the letter that I sent you with the CF and FXS results, it also contains the SMA screening results. I have had a handful of patients who are carriers but their partners were all clear. The test is available to anyone (public patients, private patients, anyone!), but unfortunately it is completely ‘out of pocket’ and the cost of $385 precludes many people from affording the test. However, often the issue is not the cost per se – some people will consider this test important and worth the money – but not even be aware that this test is even available. It can be ordered by any doctor. GPs and obstetricians all should have knowledge of this test. The beauty of this pre-pregnancy test is that if we find that both partners are carriers of SMA, then through IVF technology we can perform testing on embryos prior to transfer to the uterus so that women can be confident their babies are healthy. No doubt this innocent and unlucky couple will be doing IVF and PGD (pre-implantation diagnosis) in the future. It will never compensate them for the loss of their beloved baby.