Genetic Carrier Screening Results - Positive

[Anonymous]

I received my genetic carrier screening results from Myriad today and came back positive for two conditions. I completed it in advance of our first IVF round. The conditions aren’t well known nor explain our infertility (e.g. not fragile x) so I’m trying to understand if, a. I should be concerned I was positive for 2 conditions. I can’t find a lot of information on how common it is to get a positive result, and b. Should my partner get tested? The conditions are typical for people from regions/ethnicities he is not and we may not get results by the time we start IVF. TIA

[Anonymous]

Everyone is a carrier for something. Assuming these a recessive conditions, it is only an issue if your husband/donor is a carrier for the same things.

[Anonymous]

If you’re talking about Tay-Sachs and you’re a carrier, then YES. Sorry, whatever it is. Wishing you the very best and sending a hug

[Anonymous]

Yes, he should if you are a carrier. That’s what my husband and I did.

[Anonymous]

OP here - not Tay-Sachs but one is Niemann-Pick. Sounds like I should get my partner tested. It’s so much simpler when you just “get” pregnant. Infertility sucks. Thank you!

[Anonymous]

Would definitely get partner tested.

[Anonymous]

OP again - I think I’d request PGD testing regardless of his result after reading more about it. I’ll bring it up with the RE.

[Anonymous]

For the record, this isn't a problem specific to IVF. My gyno recommended carrier screening at my pre-conception counseling, so I did it before we even started trying. I also had a couple of positive results, which is generally pretty common. They test for LOTS of things. So, my husband got tested with the same test, he also had a positive, but it was for something different, so we had no problem with starting TTC naturally.

[Anonymous]

Anonymous wrote:For the record, this isn't a problem specific to IVF. My gyno recommended carrier screening at my pre-conception counseling, so I did it before we even started trying. I also had a couple of positive results, which is generally pretty common. They test for LOTS of things. So, my husband got tested with the same test, he also had a positive, but it was for something different, so we had no problem with starting TTC naturally.

+1. I got the genetic carrier screening when I was pregnant with my 2nd bc I’d had 3 miscarriages. I had two positive results. I would not have been able to relax until I knew if my partner was also positive so he got tested (and came back negative for them). I think it depends on you, OP, and how much you feel like you need to know. I 100% needed to have my partner tested for my own sanity!

[Anonymous]

Anonymous wrote:OP again - I think I’d request PGD testing regardless of his result after reading more about it. I’ll bring it up with the RE.

Umm I think you might be confused or at least not using the most up to date language. PGD is an outdated term but generally refers to what is now called PGT-M which tests for single gene conditions where both parents are carrier (what the test you took screens for). It only tests for that one disease and is specific to you. This would not be done unless you were both carriers for the same disease. PGT-A is commonly done but just checks to see if an embryo has the right number of chromosomes, so can screen for downs and other chromosomal disorders, but would not be able to screen for any of the autosomal recessive diseases the genetics panels screen for.

[Anonymous]

Anonymous wrote:

Anonymous wrote:For the record, this isn't a problem specific to IVF. My gyno recommended carrier screening at my pre-conception counseling, so I did it before we even started trying. I also had a couple of positive results, which is generally pretty common. They test for LOTS of things. So, my husband got tested with the same test, he also had a positive, but it was for something different, so we had no problem with starting TTC naturally.

+1. I got the genetic carrier screening when I was pregnant with my 2nd bc I’d had 3 miscarriages. I had two positive results. I would not have been able to relax until I knew if my partner was also positive so he got tested (and came back negative for them). I think it depends on you, OP, and how much you feel like you need to know. I 100% needed to have my partner tested for my own sanity!

I also got carried screening a few years ago for my first pregnancy (not IVF). I believe it is fairly common, many friends also did this test.

[Anonymous]

OP here - since I’m paying out of pocket, could I request the test for that specific gene without us both carrying it?

[Anonymous]

PP - should have added that both husband and I were carriers for a few things, but nothing overlapping.

Carrier screening is a separate test from PGT - which tests the actual embryos. Probably makes sense to have both.

[Anonymous]

Anonymous wrote:

Anonymous wrote:

Anonymous wrote:For the record, this isn't a problem specific to IVF. My gyno recommended carrier screening at my pre-conception counseling, so I did it before we even started trying. I also had a couple of positive results, which is generally pretty common. They test for LOTS of things. So, my husband got tested with the same test, he also had a positive, but it was for something different, so we had no problem with starting TTC naturally.

+1. I got the genetic carrier screening when I was pregnant with my 2nd bc I’d had 3 miscarriages. I had two positive results. I would not have been able to relax until I knew if my partner was also positive so he got tested (and came back negative for them). I think it depends on you, OP, and how much you feel like you need to know. I 100% needed to have my partner tested for my own sanity!

I also got carried screening a few years ago for my first pregnancy (not IVF). I believe it is fairly common, many friends also did this test.

+1 We got the screen twice -- back in 2010 before we started TTC for the first time, and again in 2016 when we were dealing with secondary infertility. In our case we knew to be screened because we are Jewish and I'd had close relatives with Tay-Sachs. And it turns out I am a carrier for Tay-Sachs. The 2016 screening was much more comprehensive -- not sure if just the science had advanced or what. In any event nothing turned up to explain the infertility (and we ultimately were successful with IUI), but it's good to have the knowledge of potential genetic issues -- if not for you, for your children or grandchildren down the line.

[Anonymous]

Anonymous wrote:OP here - since I’m paying out of pocket, could I request the test for that specific gene without us both carrying it?

I am not sure - question for the medical techs. Is the condition you are a carrier for very common? Odds are that even if you are a carrier it won’t be passed down unless DH also has. Easiest thing to do is for him to get the screening also. Then PGT becomes optional - unless you want to ensure embryos are “normal”.

We are out of pocket too, OP. Sorry.