28-y-o egg donor + PGS ... and told that we have a 1 in 3 chance of Down Syndrome

[walkeres]

Hello,

We decided to have PGS (screening for DS/aneuploidy) on our embryos because we figured the cost was equal to what it would cost if we had to do an FET. Besides having a young 28-y-o egg donor, being blessed with 5 "normal" embryos after that process seemed completely assuring that we would not encounter any aneuploidy risk. Well, my first blood work plus the NT scan were fine, however we were informed last week that the second blood work had two analyte levels which are markers for DS, creating a risk of 1 in 3. Complete and utter shock. This is not 1/20 or 1/10 or 1/5; this is 1/3.

Has anybody been high risk even with PGS, and what was your outcome? Despite normally being emotionally stable, I am going from feeling that our child definitely will have DS to feeling that he/she definitely won't have it. These swings are starting to make me a bit crazy.

I had an amnio, and we'll learn the result on August 14 or 15. The risk is the same 1/3 for both the donor's age and my age (44). I also asked whether the fact that we had PGS could be calculated into the 1/3 ratio, but that cannot be done. For some reason, Kaiser did not have PGS in my file. Once I told the Genetic Counselor that, she sounded more assured, but 1/3 is 1/3.

What I am holding on to is that the scan done just prior to the amnio looked "great," but that is no guarantee. Also, the Genetic Counselor feels that, because an analyte that normally is low in DS is high in my case might, a placental problem rather than DS might be indicated. So you can see why I go from optimistic to devastated - back and forth and back and forth. And PGS is typically 90-96% accurate in detecting aneuploidy, so that brings me up again, but then there's plenty negative to think about that makes me crash again. (Not being 100% is due to mosaicism, whereby one cell that is tested may be normal, however one or more of the other cells might have aneuploidy. Unless you test all cells, you do not know for sure.)

I am so glad to have joined this group and have researched the forums for answers/advice in our situation, yet have found none quite similar, so am posting this as a fresh topic. I am certain that beyond this topic, if all goes well now or with our remaining two embryos (one was lost in a chemical pregnancy), I will be a regular visitor and hopefully can assure others who are scared because our situation turned out well :}

Thank you for reading this crazy situation and sharing what your experiences have taught you....

[DMS721]

I don't really have any experience, but just want to offer you encouragement, and hope that everything turns out well. I would think with the PGS and NT scan that the odds are in your favor. The bloodwork can be really sketchy at times. The slightest things can skew the results. Please keep us posted once you get your amino results!

Dawn

[walkeres]

Thank you, Dawn. I checked our NT measurement this morning (had not paid much attention the first time because all seemed well, and after encouraging research and posts was brave enough to look!), and it is 0.89, which is far less than the 3mm "worry zone." So I am glad I checked. Certainly no guarantee, but comforting nevertheless, and any bit of comfort helps!

[SC-Sherb]

walkeres, welcome to the site. I agree with Dawn as well and your NT measurement is very similar to what mine was with DS#2. It was 0.9mm. Many positive thoughts and prayers to you and your little one hun and praying for a great result from your amnio. Please keep us updated.

[walkeres]

Hi, everybody,

Today we learned that the amnio results do not indicate Down Syndrome, yet raise the flag on a possible chromosome 4 problem (duplication). There may be "extra material" there.

I started to research and have learned that this condition is super rare. It all is highly technical and making my head spin and not accomplishing a lot, so I am going to curtail the research and just try to find solace in its rare occurrence.

We will have the result from that microarray CGH testing on Tuesday, August 21.

So, both good news and questionable news. Please stay further tuned.

Thank you for your support and any shared experience!

[SC-Sherb]

Thinking of you and little one hun!

[walkeres]

We were supposed to learn last Tuesday (8/21) the chromosome 4 result. Then they told us it would not be ready till Friday. But later that Tuesday, I developed early onset severe preeclampsia / HELLP syndrome, and to save my life (high BP, liver shutting down, destruction of red blood cells) we had to terminate the pregnancy the next day, at 20w2d. Then we learned two days later that the baby was healthy, like a twisted knife in our hearts. Turns out the high blood values did indicate a placental problem rather than a genetic problem, although my doctor did not expect such a drastic and tragic placental problem.

Physically I have healed well and am starting to stabilize my blood pressure on a medication. Emotionally was doing well - simply glad to be alive and to have a healthy husband and daughter - but now I am wondering whether we could have prevented this. I had a high blood pressure syndrome two weeks after our daughter was born, which was not preeclampsia but on the "spectrum" of that. So now I am torturing myself that I should have seen a high-risk OB who could have treated any problem in advance.

Now we are looking into international surrogacy options for our remaining two embryos. I will put up a post about that.

I am sorry for this shocking, sorrowful news, but of course wanted to provide closure on this post.