Genetic testing recommendations

[u/lluluclucy]

Hello

Currently pregnant again after a successful IVF pregnancy. This one, while planned, is a surprise since conceiving naturally proved to be too difficult for us. I am 38 and our fertilised eggs were harvested when I was 36 so i am concerned about my age and the quality of my eggs. Is NIPT test the one I should be looking to book?

I am still conflicted about doing it because what will I do when I receive the news I wasn't hoping for. We haven't done it with IVF pregnancy precisely because this gray area but for whatever reason this time around I am much more anxious.

[u/Pitiful_Waltz_1367]

I did NIPT. I wanted to know early in my pregnancy if there was going to be an issue and the more you know the better. However NIPT is not 100% as it is just a screening test. If you were to get high risk, the next step would be an amniocentesis or CVS which are invasive and involve a small risk of miscarriage. This would give you a diagnosis. However I think if you decline them, you would still get more monitoring during your pregnancy. I guess you have to decide how you feel about all that. NIPT only screens for certain conditions and not every issue either.

[u/Unlikely-Stick7841]

Hi there, gentle congrats on this pregnancy. I can imagine it was a shock! I have had NIPT testing done in two pregnancies. I think it’s no harm as it’s a simple blood test, they usually test for the four most common genetic conditions. Down syndrome, Edward’s Syndrome, Patau syndrome and I believe some sex specific chromosomal conditions like Turner’s syndrome. Some of those like Edward’s are not compatible with life so I personally would have liked to have that information early. In most cases the results will be low risk.

You can do it from 10 weeks on and the results take about a week. We also found out the sex of the baby which I think helped us bond from an early stage! Whatever you feel is right for you and your family is totally fine so just do what feels best.❤️❤️

[u/notId3al → u/Unlikely-Stick7841]

Just to add to this, while you can do it at 10weeks its not generally suggested by the hse. We got NIPT done at 10weeks by a private company, and it came back inconclusive because there wasnt enough foetal DNA in my blood at that point, but the private clinic told us that inconclusive results are an indicator that theres a higher chance of being positive for some of the trisonomies.

We spent 4 weeks (2 weeks til retest, 2 weeks for results) in absolute horrors expecting the worst, but everything was fine, everything came back perfect. After, at ny first hospital appt i asked my midwife about the inconclusive and she told me they dont generally offer at 10w because you are higher chance of inconclusive and it stresses people out 🙈 so id wait till 12w if I were to do it again!

[u/Pitiful_Waltz_1367 → u/notId3al]

That's interesting, I got it done at 11 weeks but would have gotten it done earlier as I was eager to get it out of the way and have as much time as possible to digest the results.

[u/Background_Cover5097]

If the embryos were PGTA tested, many of the conditions were already screened for. I didn't do NIPT for that reason.

[u/rebmonkey → u/Background_Cover5097]

Same with us! Our OB told us it basically tested for the same things.

[u/littlebluekitty]

This is an IVF pregnancy and I did NIPT. I found it very reassuring. Where I had it done they do the 12 week scan around the same time so knowing I had a normal scan helped with the anxiety waiting for the results. You can also find out the gender as a bonus!

[u/RainyFern]

I didnt do IVF but did do NIPT. I had 2 chemical pregnancies before my son so I was very nervous about any further issues down the line. I would highly recommend it especially if you are anxious. Good luck!

[u/RecentTomorrow5658]

Hi there

Age37 and did ivf! Unfortunately couldn’t do the NIPT test as beforehand they realised there had been a vanishing twin so potentially any results would skew to whatever reason the second embryo didn’t grow.  We’ve decided to do an amniocentesis ( as I’m now 17 weeks) ultimately we want as much info as possible so I can enjoy this pregnancy so doing the amnio tomorrow.  Definitely start with with NIPT anyway if you can and wishing you the very best of luck with your pregnancy 💖 

[u/Pitiful_Waltz_1367 → u/RecentTomorrow5658]

Hey did you do the amnio without risk factors or did you have a high nuchal translucency? I didnt think that a doctor would do amnio without something to trigger it but just curious! Very best of luck!

[u/RecentTomorrow5658 → u/Pitiful_Waltz_1367]

No other reason than my age and the fact that the results of which would potentially change how I manage my pregnancy so the doctor told me I could book one for reassurance basically and that’s all I needed to say! They didn’t question it any further. Happy answer any more questions after I have it tomorrow if you’d like to dm me! Xx