I’m sorry to hear about your experience with being hit with a false positive. One of the biggest obstacles in Pompe screening is the presence of pseudodeficiency alleles, where there is a deficiency in the GAA enzyme but not deficient enough to cause the Pompe disease. In my screening program almost 50% of all positives end up becoming false positives because of this, I wonder if you know if this was true in your case?
To answer your question, the treatment used in utero is actually the same treatment that has been always used for newborns with Pompe and other genetic diseases (enzyme replacement therapy). The reason why this treatment is big news is that this is the first time it’s been done in utero, which is a big deal specifically because infantile onset Pompe can be irreversibly fatal within a couple months of birth, so even with screening sometimes it can be too late to begin treatment.
bassisafish t1_ivvmspw wrote
Reply to comment by Juniper_Moonbeam in In a first, doctors treat fatal genetic disease before birth by 29PiecesOfSilver
I’m sorry to hear about your experience with being hit with a false positive. One of the biggest obstacles in Pompe screening is the presence of pseudodeficiency alleles, where there is a deficiency in the GAA enzyme but not deficient enough to cause the Pompe disease. In my screening program almost 50% of all positives end up becoming false positives because of this, I wonder if you know if this was true in your case?
To answer your question, the treatment used in utero is actually the same treatment that has been always used for newborns with Pompe and other genetic diseases (enzyme replacement therapy). The reason why this treatment is big news is that this is the first time it’s been done in utero, which is a big deal specifically because infantile onset Pompe can be irreversibly fatal within a couple months of birth, so even with screening sometimes it can be too late to begin treatment.