Transfer of Abnormal Embryo

[Anonymous]

Does anyone know of a fertility clinic in the Nova area that will consider transferring an embryo that tested abnormal for Turner's Syndrome? Some backstory - I've had 5 IVF cycles and no normal embryos. My first cycle was at age 38 (I'm now almost 41) and I only had one blast to test, which was a 5AA but came back as Turner's Syndrome. I was skeptical of the PGT-A result because my DD screened positive for Turner's Syndrome when I was pregnant (it was the DNA test that screened for chromosome issues based on my blood sample) but a subsequent amnio showed she did not have Turner's Syndrome and that it was likely the placental DNA had the abnormal cells, which doesn't affect the baby. After getting booted out of shared risk because of 2 more failed cycles, I instructed SGF to destroy that frozen embryo (as that was a requirement in order to get our shared risk money back), but 4 cycles later and nothing to show for it, I've often wondered whether that was a false positive or if the same situation where only the placental DNA is affected (which is what is tested with PGT-A, not the fetal DNA). I'm currently doing a donor egg cycle with SGF and the first FET didn't work. At my follow-up consult I found out that SGF didn't end up destroying the abnormal embryo from 2 years ago, which now makes me wonder if SGF's mistake is a sign that I should give my only OE embryo a shot. I've done tons of research regarding PGT-A testing over the past 2 years and have found that the false positive rate is fairly high (typically thought to be between 10-40% false positives). I also did lots of research on Turner's Syndrome after my first scare with DD and only 1% of Turner's Syndrome embryos result in a live birth (the other 99% are typically chemical pregnancies - if it implant's there's no higher risk of miscarriage). The 1% that do survive lead a pretty normal life with hormone treatment. That makes me less concerned about the worst-case outcome of having a child born with Turner's Syndrome. For anyone unfamiliar with Turner's Syndrome - the actress Linda Hunt and gymnast Missy Marlowe have Turner's Syndrome.

I'd welcome comments but please reserve any judgment - I've had the unique experience of finding out firsthand that testing placental DNA for Turner's Syndrome isn't 100% accurate so keep in mind that my perspective may be different. Sorry for the long post!

[Anonymous]

I can't tell you about getting an embryo implanted, but I can second that blood testing for Turners has a 50% false positive rate. My sister is currently carrying a child with Turners (actually has Turners based on amnio and other screening). I would guess that if they tested the embryo positive for Turners, then it is actually positive for Turners. I can tell you that my sister has had a lot of ups and downs with this pregnancy, and obviously she was already past the point of likely miscarriage when she found out. If you think that it's your only remaining chance, I'd personally go for it.

[Anonymous]

I don't think it's true that 99% don't implant and there is no additional miscarriage risk, based on my research from a year ago. 99% don't make a viable pregnancy. I lost twins to Turner's syndrome at 9 weeks.

[Anonymous]

Not to scare you but I have a friend whose DD has Turners syndrome and has both cardiac and renal issues. She may well need a kidney transplant down the road as well as hear surgery.

[Anonymous]

I actually looked into this. As you know OP, but putting in for the benefit of others, there have been a number of studies throughout the world reporting healthy live births from PGS “abnormal” embryos that are nicely summarized in the article below:

https://www.thecut.com/2017/09/ivf-abnormal-embryos-new-last-chance.html

I don’t think there are any REs in this area that will transfer “abnormal” embryos. The closest place I know of is the Center for Human Reproduction in New York.

I consulted Dr. Gleicher at CHR regarding transfer of two PGS “abnormal” embryos I generated at Dominion. When I was doing my cycle overview with Holi at Dominion, she told me they hold on to the PGS “abnormal” embryos which is the only reason I consented to PGS. After the cycle upon finding out both of my embryos were “abnormal”, I communicated to Dr. DiMattina that I wanted my embryos saved. He assured me they would be stored for me. However, when I tried to transfer my embryos to CHR, I was told they were destroyed and DiMattina is claiming to remember nothing of our conversation which I do not believe. So, for anyone who is skeptical of PGS, be very careful dealing with Dominion as they are not honest about their practice.

Based on my consult with Dr. Gleicher, I think they consider transfer of “abnormalities” that are lethal because if “real” the embryo will either not implant or cause an early miscarriage but if “false” will have a good pregnancy chance. I don’t know that they would transfer an abnormality with the potential to result in a live birth with a chromosomal abnormality. With everything you’ve been through though, it may be worth a consult with them. Best of luck.

[Anonymous]

Anonymous wrote:Not to scare you but I have a friend whose DD has Turners syndrome and has both cardiac and renal issues. She may well need a kidney transplant down the road as well as hear surgery.

I know a baby with Turners and she had to have heart surgery at 10 days old. She's doing well now and the prognosis is good but agree with PP that Turner's is not as simple as "she'll probably be short and smart."

[Anonymous]

OP here - thanks for the responses!