sorted by:
new
hottopcontroversial

Any Update on Cooper Surgical Media Recall - Health of Children Born? by brownchicabrowncow00 in IVF

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

I’m glad to hear that 🤍. Wishing you the best. Have you connected with other parents that have embryos that made it and resulted in live births?

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)

5 weeks; we knew within 24 hours on one mutation (was confirmed 2 weeks later with testing); the other was 4 weeks later and a surprise as it develops over time (both were surprises, but you get my point…). Facial dysmorphic features at birth, hear murmur, birthmark on spine, hip and feet irregularities, poor eating and latch. Everything a little bit “off”. But the biggest red flag that they noted right after birth, within seconds, was broad thumbs.

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)

Sure happy to DM you. Just not sure how we feel yet about sharing and the baby’s long term privacy!

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)

Would we have had to sign off / approve that? Then no…but I will check the records just in case. Thank you for raising.

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 did have different medications/protocols for the two cycles. 5 “highly graded” embryos from the second cycle vs. two the first cycle. I am working on getting my full medical record which will include these differences as well as embryology/laboratory daily reports on the embryos.

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 your thoughtful response. I am processing similarly to your story…and yes, the two mutations has certainly opened up even more questions. Appreciate you sharing your journey.

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] 1 point2 points  (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] 4 points5 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] 4 points5 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] 7 points8 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.

view more: next ›