There was a blood draw and ultrasound at 12 weeks as you mentioned, and then the follow up blood draw at 16 weeks. The sequential screen is something my OB practice does regardless with every patient (though I do go to a high risk practice, so that may be why). Because I am under 35 with no risk factors, our insurance did not cover NIPT, but it only cost 250 out of pocket (we did our test through Panorama). We were keen to know the sex, but we also would have TFMR for some conditions and wanted the reassurance, or the ability to pursue further testing if necessary (CVS or amnio). Our insurance fully covered the carrier screening, so this may be something you want to look into as well. Since you would already be pregnant, the next step (if both you and your partner were carriers) would probably be amnio, cvs, or 'wait and see.' I think there is also something to be said about the benefit of the carrier screen in terms of early interventions-it doesn't have to be a case of whether you would terminate or not- could be that both you and your partner are carriers for something that early intervention would provide better outcomes.
Had we both been carriers for the same condition (particularly one of the more serious ones) we would have likely had further conversations with a genetic counsellor/our doctor about next steps.
My husband wasn't a carrier for any of them anyway, so for us the test provided some extra reassurance. In our case, the things I am a carrier for are fairly benign and really pose no risk to the baby anyway. This whole process was fairly lengthy (I think it took something like 8 weeks from start to finish, although that was partially because we hadn't conceived yet and my husband took some time before being tested) and also involved a few phone calls with a genetic counsellor. Then, depending on whether you come back as a carrier for anything, they will test your partner for anything you are a carrier for. The way it works (and I believe the process is much the same if you are pregnant when it is done) is that they test the mother first. In my case, I actually had the guided panel before getting pregnant. I've had all three of these tests, so hopefully I can provide a little bit of insight. If we do NIPS (which we're pretty much 100% on), which other screening seems to be the logical addition? I'd appreciate any help/guidance/resources you can offer! I don't entirely know what a lot of these disorders are or how common or even serious they would be if detected. Again, this is normally $2,900 but through the genetic testing company it's $299.īasically, I'm lost here. There is also a more extensive test called Inheritest - Society Guided Panel that tests for a ton of stuff (sickle cell disease, beta thalassemia and hemoglobins C, D, E, O, Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, fanconi anemia group C, Fragile X syndrome, Gaucher disease, Mucolipidosis type IV, Niemann-Pick disease types A&B, spinal muscular atrophy, and Tay-Sachs). This is around $690 total split between the two tests (I don't believe our insurance covers it, but we're going to check). It says this screens for Trisomy 18 & 21 (which seems redundant if we do NIPS?) as well as neural tube defects. Our doctor recommended doing something called a Sequential Screen which has two parts, one that we'd do around 12 weeks (ultrasound and blood draw), and another between 15 and 21 weeks that is just a blood draw. This is normally $1,100 but through the genetic testing company they recommended it's $299. It says this screens for Trisomy 13, 18, and 21. We are opting to do the MaterniT21 test (also called NIPS, I believe?) at 10 weeks, partly because we want to know the sex of the baby before we tell our families. (I am of course not basing my decision solely on the opinion of strangers, but many of you have been through this before so I value your opinion!)
When we went over it, it was a pretty quick process (not my doctor's fault - I was just overwhelmed and had no idea what to ask), so now I am left with this sheet of info and thought I'd get some of your input on what options we should consider. At our 7-week prenatal appointment we got a whole sheet worth of various genetic testing we could opt to do (or not do).
0 kommentar(er)
