Genetic testing; thoughts and experiences.

[boothy1883]

After our fifth BFN yesterday I’ve been doing lots of googling and come across Karyotype testing. Has anyone done this? What are people’s thoughts? My grandma had a son who had Down Syndrome and my Great Aunt was (suspected) unable to conceive and so am beginning to question if there is a chromosomal repeated implantation failure.

We’ve got lots of questions to ask the consultant and this will be one of them. Xx

[Lisichka]

I did karyotype test after 4 unsuccessful transfers with top quality embryos as part of the repeated pregnancy loss panel. It did not show anything unfortunately but I am glad we did it because at least it ruled any chromosomal issues out.

[Zebedee1971]

My miscarriage specialist said not to do it, but we did anyway. Came back 'normal', felt like a waste of money honestly... But we don't have any history of abnormalities in our families, so really it probably wasn't meant for us. If you have downs in your family... Well, having the test won't stop you having a downs child. You can't control the dna of an embryo or do anything to improve the dna- you get what you get. Your child may have it... Or may not. It's pot luck really. Yes, it can tell you there's a chance your child MIGHT have it, but thats all it can do.

Also, as far as I'm aware, downs syndrome isn't hereditary?? Worth looking into that...

Unless there's other syndromes that you know of in your family, I wouldn't waste the money. My miscarriage specialist was adamant we shouldn't do it, but we did anyway, and regretted it.

If you're worried about chromosomal issues causing miscarriages, pgs testing would be a better option (although I'm also cynical about this😂)

Good luck with whatever you decide x

[boothy1883 in reply to Zebedee1971]

Thank you for your reply. I think to be honest I’m just looking for answers and clinging on to anything which might offer them but I understand what you’re saying and i don’t want to end up regretting decisions we’ve made.

I’ve looked into PGS testing and discussed it in quite a lot of detail with a friend who’s an embryologist. She’s very cynical about it and explains there’s not a lot of research behind the success of it yet. Also my husband is reluctant to pay the extortionate amount of extra money for it🙈xx

[Zebedee1971 in reply to boothy1883]

I personally don't agree with pgs testing either. We had 2 tested in the summer and both came back abnormal and it made me SO Paranoid that all my eggs were duds. I got pregnant naturally the following month and we're now 13 weeks in. So I worried myself sick needlessly.

I guess really you need to ask yourself which it is you're concerned about: is it chromosomal issues, or implantation? Two very different things.

Chromosomal... You might get 1 or 2 miscarriages/chemicals, possibly 3, then a normal pregnancy. Implantation issues... You'll keep getting chemicals/early miscarriages... 4, 5, 6... For both, karyotype won't help with this as every embryo is different- its not like every embryo will have the same chromosomal issues, some will have abnormalities, some won't.

It's such a mindfield. So many tests, so many possibilities of things that could be wrong... but it's good to be cautious about throwing money at things that could be a waste of time. 👍

[Ivfgotadream]

Personally I wouldn’t bother unless you had suspicions that their was a family history of genetic disorders or that the DS in your family is not the random type but the hereditary one. Karyotyping only looks at you and your partner individually - it can’t tell you whether the embryos you create together are chromosomally normal? You’d need PGS for that and that isn’t 100% accurate either. (I did PGS testing on my second IVF cycle age 36 and didn’t get any normal embryos, decided not to test again and am pregnant with twins from the next egg collection where I only had 2 eggs collected)

[Gem1982]

I did PGS testing after a blighted embryo miscarriage. I think we had 6 embryos , only one came back as normal. This was the one that was graded a C so would have been the last one to be put back. I am currently 25 weeks pregnant with it. It was the best thing we could have done as saved us heartache and precious time. Unfortunately there is no guarantee but it may help x

[Linda84Co]

I also think PGS testing is more helpful. I’m now pregnant with our third PGS tested embryo. Had one BFN and one Chemical, so there is no guarantee anyhow but I had missed miscarriages before and didn’t want to go through that again, also because we had send the pregnancy tissue to lab after I missed carried and the was chromosomal issue... best of luck xx

[PixieB26]

I did PGS testing, and am so happy I made the decision to do so. 2 of my 3 embryos came back normal. The abnormal one was very abnormal and had I not tested I could’ve had that transferred and suffered a lot of heartache. Being 42 I wasn’t willing to slow down this process in any way.

[boothy1883]

Thank you everyone for your replies. They’ve been really interesting to read and hear of your different experiences.

We have an appointment with the consultant, not until the 20th January though😔 I’ll def be asking about PGS testing if the FET doesn’t work. Xx

[josephnsn]

I did it before switching to a private clinic from Guys. Guys advised against doing it as the likelihood of it showing anything was something like 1%. The private clinic suggested doing it so I did. Came back normal for me and my partner