What did you decide to do if you’ve gone this route? How did you make that decision?

Many important convos will be had this week as we make this choice for the third time. Last time we didn’t have any embryos to freeze, so the choice turned out to be correct for us (saved us some money this way, as you have to pay up front for the PGT cycle vs not, on top of the fee per embryo at our clinic). This time, on a different protocol I really have no idea what the right choice will be.

Here’s some of the info I have found which I’ll dump on you all so you can make informed choices. For every study for, there’s a study against. (actually for every “for, there were 2+ against, despite PGT-A being so popular in North American clinics).

Studies against:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8607878/
https://www.statnews.com/2021/11/26/ivf-pregnancy-pgta-genetic-testing/
https://academic.oup.com/humupd/article-pdf/29/3/291/50276439/dmad001.pdf
https://brieflands.com/articles/zjrms-121265

According to an analysis by Kemper, Wang, Rolnik, Mol:

“The biopsy may inflict direct damage on the embryo; the results of the biopsy, namely false positives and negatives, may be an indirect avenue of ‘damage’ to the embryo, or may reflect differences in the molecular technique utilized. Furthermore, examination of the results of only the first embryo transfer is likely to cover both indirect and direct forms of harm, as there is likely to be an increase in pregnancy rates due to the better selection of embryos. If the first embryo transferred is successful, then perhaps these harms are mitigated for the patient, but this relies on a relatively small first transfer success rate.

Mosaicism (the presence of two or more different sets of genetic material within the same embryo) may lead to potentially good quality embryos being discarded; by this mechanism, PGT-A actually removes these potentially viable embryos, whereas morphological assessment alone would allow these embryos the chance to produce an ongoing pregnancy. The reporting of embryos with a PGT-A plot falling in the mosaic range continues to be an issue, not because of the mosaicism per se, but due to the absence of solid unbiased evidence to counsel couples on the nature and destiny of these embryos. A mosaic result may be irrelevant, being confined to the placenta, or may represent true foetal mosaicism, with various degrees of clinical manifestations and significance (Kemper et al., 2019b; Popovic et al., 2020). This nuance is missed when analysing only the first embryo transfer; the first embryo will likely have the highest ‘purity’ and may well not be mosaic; it is only when cumulative rates are analysed that the potential impact of mosaicism is revealed.”

Studies for: (I’ll admit these were harder to find… if anyone has any to share, feel free in the comments)
This one shows no benefit for younger IVF patients, but positive benefits for older patients:
https://jamanetwork.com/journals/jama/article-abstract/2790646
https://www.frontiersin.org/articles/10.3389/fendo.2023.1020055/full

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On day 6 the clinic called to tell us that they had biopsied and frozen 6 embryos, in addition to the one 4AA they inserted into my uterus. I jumped for frigging joy. 6 embryos out of 13 eggs retrieved is unheard of. There were others, too, but they didn’t meat the grading requirements to freeze. Every lab is a bit different on how they grade and what they believe it’s worth keeping. 6 was amazing. They biopsied them and mailed the samples off to Igenomix, a genetics lab that tests for chromosomal abnormalities.

PGT-A Chromosomal testing is helpful in some ways. The unfortunate thing is that most clinics make you decide whether to PGTA test before you even begin your cycle. There’s an increased cost to set this up, so if you don’t get embryos you’re out that money. In addition to this, for each embryo you send out, you pay a testing fee per embryo. At the time, ours was $550 per embryo, so an addition $3300 after our cycle. It’s not chump change.

PGT-A testing doesn’t find everything though. It tests for the most common genetic abnormalities, such as common trisomies. There other types of PGT tests too, but this is the most common. Skip the next section if you don’t care to read about the specifics…

– Preimplantation genetic testing for aneuploidy (PGT-A): This type of PGT screens embryos for certain chromosome abnormalities. Human embryos typically have 23 pairs of chromosomes (46 total) in each cell.  One chromosome in each pair is contributed by the egg, and the other is contributed by the sperm.  It is common for embryos to have random chromosome abnormalities such as a missing or extra chromosome, which is called aneuploidy.  In the majority of cases, these chromosome abnormalities happen by chance and are not inherited from a parent or donor.  Embryos with aneuploidy are more likely to result in miscarriage or a failed transfer.  Some types of aneuploidy may result in the birth of a baby with a chromosome condition such as Down syndrome or Turner syndrome.
– Preimplantation genetic testing for monogenic disorders (PGT-M): This type of PGT is performed when a patient has an increased risk for a specific genetic condition to occur in their embryos.  PGT-M is appropriate when an individual is affected with a genetic condition that could be passed on to their children, for individuals who are carriers for an X-linked condition, or when an individual and their partner or donor are both carriers for the same autosomal recessive condition.
– Preimplantation genetic testing for structural rearrangements (PGT-SR): This type of PGT is performed when a patient or their partner has a rearrangement of their own chromosomes such as a translocation or inversion.  A person with a translocation or inversion is at increased risk to produce embryos with missing or extra pieces of chromosomes.  Embryos with missing or extra pieces of chromosomes are more likely to result in miscarriage, stillbirth, or a child with serious health issues.
(Source)

If you have suspected monogenic disorders, sometimes they will send you for IVF not because of infertility, but so they can test for these disorders. For PGT-A, its for people who have a need to do IVF otherwise, and it gives them peace of mind. The results can come back either Euploid, Aneuploid, Mosaic, or No Data.

I’ll also note, when testing for chromosomal abnormalities in blastocysts, it is done by taking a miniscule sample from the embryo. This sample will ideally contain all the data needed to say whether the inner and outer portions of the embyro are chromosomally normal, however the data is taken from the outer portions which will eventually form the placenta (not the fetus). The inside portion will form the fetus and is usually left untouched.

Euploid Embryos are embryos with normal chromosomes. People often say your fertility shits the bed at 35 and it drops off a cliff. For some it does, but Euploidy and Aneuploidy are the reason they state this. You may be able to make lots of eggs and fertilize those eggs, and they may make it to blasts, but they might all be aneuploid.

Here’s a chart showing the probability of Euploidy at different ages:

Aneuploidy is when an embryo comes back with one or more extra or missing chromosomes. This can result in either a nonviable pregnancy, babies that may not survive after birth, or a surviving newborn with congenital birth defects and functional abnormalities. Most aneuploid embryos won’t implant, but at times they do, and it can be the main cause of early miscarriage. When getting pregnant ‘the old fashioned way’, we have know way of knowing whether our embryos are euploid or aneuploid, and this can sometimes be why a cycle isn’t working.

Mosaic results are a different beast. No tests are perfect. A mosaic outcome *could* result in a live birth – it’s heavily debated in the fertility community, so some clinics will implant Mosaics while others will not. In PGT-A, mosaicism is defined as a mixture of 20% to 80% aneuploid and euploid DNA content, with some euploid content.

No Data embryos occur when there is not enough genetic material in the biopsied sample to provide a picture of the genetic makeup of the embryo. These are often given the option to retest, or to transfer blindly. Re-testing requires thawing the embryo, re-biopsying it, refreezing it and sending it off again. This can damage the embryo so some people choose to forgo additional testing.

PGT-A testing can help you select the embryo that is most likely to end in a successful pregnancy/live birth. However, having a PGT-A normal embryo does not guarantee a successful transfer cycle.

The 3 embryo rule
Many doctors will say it takes 3 Euploid tested embryos to achieve a 95% chance of pregnancy in most individuals. Many first transfers of PGTA-Normal embryos will result in a pregnancy. Those who take more than 3 transfers likely have other underlying issues at play which may or may not be evident.

Now that you’ve had a science lesson!

We sent out embryos off for testing and waited a painful two weeks over Christmas 2022 for our results.

In the meantime, I was still PUPO. They encourage you not to test at home during IVF due to a variety of factors. You go in for your beta bloodwork usually 9-14 days after your transfer, depending on the clinic. I went on day 9. I was feeling good until a few days before. We had a bunch of embryos and so much hope. I caved and tested at home.

Stark White.

I went for my betas on December 19, and the result came back as <1, which means you are not pregnant. Our first perfect little embryo (pictured in the last post) didn’t make it. I was sad. But I was still hopeful.

On December 26 I got a call and voicemail with my PGT-A results. Then logged into my portal – the portal is where they keep all of your communications, docs, med schedule and results. It’s like a beast of a database from the year 2000. I logged in and the embryologist had sent me SOMEONE ELSES RESULTS. I was super confused. Not to mention the concern I had that someone also got my results, and all of my personal information to boot.

I tried to reach the embryologist but as the clinic wasn’t open officially until Jan 3, I was left in the dark. The results in the voicemail differed from the results in my portal for the other couple. So I went with what was in the voicemail (which turned out to be correct).

13 Eggs Collected
13 Eggs Mature
13 Eggs Fertilized
7 Blasts (6 tested, 1 failed transfer)
We found out 2/6 were Euploid, 2 were Aneuploid and 2 were No Data.

I was pretty happy, considering we had been lucky with attrition at that time. 2 Euploids meant two more shots at this thing. and 2 No Data could be more hope!

I’ll fast forward to February, when we decided we’d retest the No Data embryos. We thought for sure one would be Euploid. Tragically, neither embryo survived the thaw. We lost 5/7 embryos in two months due to attrition, aneuploidy and failed implantation.

Our goal was one child, and we felt pretty damn positive about our two normal embryos and got to work on preparing for another embryo transfer.

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