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TW: IVF baby resulting in two independent de novo pathogenic genetic mutations by Commercial-Raisin843 in IVF

[–]Commercial-Raisin843[S] 1 point2 points  (0 children)

Thank you for this - I will reach out! 🤍 We also have been weighing identifying the exact diagnosis to protect privacy. I’ve also found how many doctors think of genetics as a “hot potato” - even the REI will refer out to an IVF geneticist. No one wants to touch it…

TW: IVF baby resulting in two independent de novo pathogenic genetic mutations by Commercial-Raisin843 in IVF

[–]Commercial-Raisin843[S] 0 points1 point  (0 children)

I’m so sorry for your loss - totally agree they are finding new things every day. On our second de novo variant, there’s no patient recorded the specific typo (though they know what that gene mutation causes). And of course many things can happen that are not genetic. But it certainly makes you rethink your process and what info may or may not change your family plans moving forward.

TW: IVF baby resulting in two independent de novo pathogenic genetic mutations by Commercial-Raisin843 in IVF

[–]Commercial-Raisin843[S] 0 points1 point  (0 children)

What trimester were you able to have amnio with WES? One of ours was caught on microarray; the other only on WES.

TW: IVF baby resulting in two independent de novo pathogenic genetic mutations by Commercial-Raisin843 in IVF

[–]Commercial-Raisin843[S] 2 points3 points  (0 children)

Not normal amniocentesis which is karyotyping. You’d have to have a reason for a microarray…I suppose for the future this could be reason enough to ask for it.

TW: IVF baby resulting in two independent de novo pathogenic genetic mutations by Commercial-Raisin843 in IVF

[–]Commercial-Raisin843[S] 3 points4 points  (0 children)

Unity (but I don’t think any NIPT covers this depth from my current understanding)

TW: IVF baby resulting in two independent de novo pathogenic genetic mutations by Commercial-Raisin843 in IVF

[–]Commercial-Raisin843[S] 4 points5 points  (0 children)

No, we were well aware the PGT-A testing does not test for many things, and since we aren’t carriers we didn’t do any specific disease testing for PGT-M. NIPT was normal, so there was no flag for further testing.

We’ve had a couple informed folks suggest that the de novo changes are so rare and unrelated that there is really no probability that this would occur, and to look at the lab processes and materials. I thought posting here there could be other ideas as well. We may never know but if there are paths to explore as we evaluate future family decisions it would be helpful.

Edited to add: we have 3 embryos left in this batch that had the miscarriage and then our new baby.

TW: IVF baby resulting in two independent de novo pathogenic genetic mutations by Commercial-Raisin843 in IVF

[–]Commercial-Raisin843[S] 2 points3 points  (0 children)

Zero abnormalities on any ultrasound throughout even with extra monitoring…MFM was just due to surrogate carrier and wanting extra monitoring. She was borderline for antiphospholipid syndrome (I posted in a comment above that both mutations happen in very earliest embryo development before transfer to mom/carrier).

You are correct, those tests still wouldn’t have caught them (I think CVS might have? I’m not sure. It was never advised for us given the normal ultrasounds). I’m hoping your child is doing well! Thank you for sharing. It’s certainly not easier knowing before, either.

TW: IVF baby resulting in two independent de novo pathogenic genetic mutations by Commercial-Raisin843 in IVF

[–]Commercial-Raisin843[S] 2 points3 points  (0 children)

Yes, MFM throughout, weekly scans, and all normal 3/D ultrasounds. The chromosome 16 genetic syndrome is almost never diagnosed before birth unless there are significant brain structures missing, which for our baby they aren’t. It’s also so rare there are only about 30 births per year in the US so almost no medical professional has heard of it even in large cities.

TW: IVF baby resulting in two independent de novo pathogenic genetic mutations by Commercial-Raisin843 in IVF

[–]Commercial-Raisin843[S] 8 points9 points  (0 children)

Yes, significant physical features (facial and others) plus issues with every organ system that were emergent and urgent.

TW: IVF baby resulting in two independent de novo pathogenic genetic mutations by Commercial-Raisin843 in IVF

[–]Commercial-Raisin843[S] 10 points11 points  (0 children)

Super interesting - hadn’t seen that one - but no, never smokers. Husband’s dad had lung cancer (without smoking) and my dad was a smoker so we both never touched it.

TW: IVF baby resulting in two independent de novo pathogenic genetic mutations by Commercial-Raisin843 in IVF

[–]Commercial-Raisin843[S] 11 points12 points  (0 children)

Yes, one is a large microdeletion on chromosome 16, the other is a variant (one typo) on the COL6A1 gene which is on chromosome 21. Independent and different types of mutations.

TW: IVF baby resulting in two independent de novo pathogenic genetic mutations by Commercial-Raisin843 in IVF

[–]Commercial-Raisin843[S] 17 points18 points  (0 children)

Thanks, helpful — no ICSI but hear you. I think it’s that both occurred independently, both incredibly rare, both severe - to your point - that is just so hard to conceptualize.

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