Nuchal translucency screen results

Today was the nuchal scan. I was really nervous going in to it. Afraid the baby wouldn't be alive or that it would somehow look terribly deformed.

Before the scan started, we had the usual awkward and painful interchange where the tech was filling out paperwork and asked how many times we've been pregnant. When we said 7, I saw her do a little double-take. She asked how many births - 0. She asked if they'd all been miscarriages - yes. Awful. Awkward. And then we moved on.

We saw right away that the baby was alive, heart beating away. Baby was doing flips in there. At first they couldn't get a good neck measurement, so the tech looked at a bunch of other things instead. We saw the two hemispheres of the brain and she said the skull is intact. We saw the arms and hands. The legs and feet. That the abdominal wall was completely closed. Nasal bone was present and noted. Placenta was posterior, with baby lying transverse, its head on my left hand side. 

All good things.

All amazing things to see.

The tech lowered the head of the table I was lying on to see if she could get the baby to change position. No dice. She had me cough a little to try to move him/her. Finally, we got the baby in a good position. 

Nuchal fold was measured at 1 mm. So under 3mm, which I think is the cutoff that indicates a potential problem at this time marker. Here's an image of the nuchal fold, with a normal nuchal fold versus an abnormally thick one that might indicate a chromosomal problem:

photo credit: fetalecho.com

And below is an image of our little munchkin. Despite all the movement, its hand is STILL up by its face. My goodness this baby likes to keep its hands by its face!!

This is the best picture we could get. Looking more and more baby-like every day!

We had the screen at 1pm...and I've been on tenderhooks since then waiting for the doctor to call with the official results. He just finally called.

Our baseline risk of trisomy 21, considering my age + the fact that we have had a prior trisomy 21 pregnancy, is 1 in 74 (gulp).

Using the nuchal fold measurement + the bloodwork, our risk has dropped to 1 in 990 (!).

Our baseline risk of trisomy 13 and 18 is 1 in 227. 

Using the nuchal fold measurement + the bloodwork, our risk has dropped to 1 in 4,521 (!).

I also asked about triploidy, since that is the one thing we weren't able to test for ahead of time. He said that by this gestational age, a triploid pregnancy would look abnormal and have a smaller amount of amniotic fluid than expected. He said it would also likely screen positive on the nuchal screen. He said he had never seen a pregnancy look this good and turn out to be triploid.

I think it is sinking in.

We are pregnant.

We are really pregnant!

And things are looking good so far!!

Mo

Click here to subscribe

Things that go bump in the night

photo credit: tome chan

All is looking good. As good as good can be right now.

Our big hurdle - both real and psychological - is time. Just needing to get through the next few weeks or so - past the date of our latest loss, further into the pregnancy where things would be a bit safer. We're thinking that might make things start to seem more real, more likely to stick around.

And considering everything we've been through - the six losses, the five years getting to this point - I think we are holding up damn well. For the most part, I am not angst-ing too much or for too long.

There are some back-of-my-head worries, some middle-of-the-night worries, the type that you don't see so clearly, but maybe hear in the background sometimes, late at night bumping around in your head and your heart.

My main fear that I can pinpoint at this stage is a fear that this pregnancy is another triploidy. We've had beta numbers this high once before - during pregnancy number 5 - and it was a triploidy, 69 XXX. Actually, my beta numbers during that pregnancy were lower than my hcg numbers this pregnancy. Gulp. Which I'll be honest, does worry me some. (edited to add: I mean lower at the same day in time...much earlier than now - back in the beginning of a pregnancy when you usually get betas drawn....)

The embryos we transferred this time were tested ahead of time and were deemed normal by microarray analysis. Because the Denver clinic was worried about repeat triploidy in our case (usually a spontaneous, non-age related, not likely to repeat event), they also did FISH testing to specifically look for this. The FISH failed to work, however, on two of the three blasts we transferred this time. So we know there is no mismatch with the chromosomes - no trisomies - but there could be an entire extra set again, which is what triploidy is (microarray only looks for a mismatch between the chromosome numbers, not how many sets there are).

Cue the fear.

I talked to the OB about it last week and she reassured me some. She said that it's unlikely to be a triploidy, but that if it is, I'll miscarry in the next few weeks. If I don't miscarry in the next few weeks, and if the quad screen, nuchal, etc. comes back ok, we can pretty much rule that fear out.

May not sound like much reassurance, but it worked for me. Nothing I can do to change it if this is a triploidy, so it's a wait and see game at this point. OK. I can do that. I can wait and see.

I also contacted the genetic counselor in Denver, just to see if she could put my mind at ease at all. She also said triploidy is unlikely (which I know, but don't these folks realize that Mo and Will are especially prone to rare and unlikely events?). She affirmed what I thought, which is that because we did ICSI, we know only one sperm fertilized each egg, which is one way triploidy occurs. She also confirmed that the Denver clinic checks for the expulsion of the polar body from the egg, which is another way triploidy can occur (the egg doesn't shed its extra set of chromosomes, so you end up with 3 sets). I was also hoping to find out if the embryologists tried to visualize the 2PN stage that confirms fertilization (because I think in triploidy you'd have a 3PN, not a 2PN stage, but she didn't answer that part of my question...oh well).

So rationally, it seems unlikely this is another triploidy, except that my beta numbers are a little out of this world. And I realize to those without a crazy bad history, these thoughts and fears may seem crazy, or super negative or something. But I don't think so. I think this is what happens when you've rolled the dice as many times as we have and have come up wanting each time. It's hard to believe your luck may finally have changed. You keep looking for the catch. You keep looking for the asterisk. The "just kidding!" in small print at the bottom of the page.

Mostly I'm not thinking too much about this. Mostly I'm actually in the now...this fear is just a little niggling thought in the back of my mind sometimes. It helps so much to know that whatever is going on in there is out of my hands. I can't unmake a triploidy if that is what is growing. I also can't mess up a perfectly normal baby if that's what we're lucky enough to finally have.

It helps that I'm still feeling guarded, have not launched head over heels into this pregnancy with my heart wide open yet. I feel a little guilty about that, but am trying to be understanding of myself and Will. We are gun-shy. We are wounded. We are taking this a day at a time, and that's ok.

So these are some of the things that go bump in the night for us. If we can just get a bit farther along, these particular fears will be put to rest. And that will be a very good thing.

Mo

Click here to subscribe

It's not exactly hope, but it's something

The universe must have heard my despair over the past two days because this morning I received a surprise call from the geneticist's office that she had a cancellation and could see us today. So we went, grateful to get in before October and expecting a thirty-minute consult.
The M.D. attending, a resident, and a genetics counselor met with us as a group for 1.5 hours. The attending took an amazingly thorough history, explained a number of things, and seemed very interested in educating us and in getting to the bottom of our situation as much as possible and offering us tangible recommendations.
You could see the cogs turning in her mind as we told our story and produced our records. I was slightly embarassed (although she said it was extremely helpful), that one of the things I'd brought was a written summary of our pregnancies and IVFs (adapted from a link on this blog, no less). She asked a ton of questions, humored ours, and really validated where we are at emotionally.
And she broke things down into categories. The "what we know" and the "theoretical."
What we know: We've had two trisomies and one triploidy. We've had three failed IVFs, with many embryos transferred. Plus two other untested miscarriages.
Theoretical: We've been told to presume chromosomal problems for the lack of implantation and for the two untested losses. She said maybe, but maybe not.
One thing she cleared up right off the bat is how this latest triploidy is different from the trisomies. She explained that the mechanism that produces triploidy is unrelated to sequencing errors that cause the trisomies and is most likely two sperm fertilizing one egg. And in that case, the three sets of chromosomes were all in the right places, there was just an extra copy of all of them (hence XXX 69). That is why this latest miscarriage is truly not adding to our risk and is a bad luck event. It is not another disjunction during meiosis, it is entirely different. We finally understood this (or maybe Will had understood before, but *I* finally understood it). She took an incredibly thorough family history, going back to our grandparents, and seemed shocked that no one had done this before.
We also talked about my cancer history, and she seemed genuinely open to that having caused a chromosomal issue, but she expressed puzzlement as to what specific mechanism would have resulted in oocyte damage. She left the room and called a lymphoma genetics expert at Memorial Sloan-Kettering to consult with him and came back and said that there is no apparent linkage between recurrent aneuploidies and the chemotherapy regimen I had. The many CT scans, gallium scans, and PET scans I have had over the past ten years are potetentially another matter, but one that is hard to quantify. (She was slightly aghast that they used to give me neck, chest, abdominal, and pelvic CT scans every two months for the first year of my remission).
Ultimately, she said that she will present our case at an interdisciplinary team meeting later this week that will include obstetrics, IVF doctors, and other assorted genetics folks. She will then call us with a summary of their discussion and recommendations on next steps.
I'm trying to steel myself for the fact that there will almost certainly be no magic answers from this but it was so, so helpful to get to ask all of our questions and be able to talk to someone who is an incredible re searcher, excellent teacher, and gifted clinician. We'll see what the team has to say.
So for now, we wait. Today was a little bit of a gift. And it came just when I needed it most.
Mo

Genetics are back

We would have had a girl. She had a triploidy: 69, XXX (yes, that's right. 69. XXX. Now, knowing my luck, I'm going to get a bunch of hits from people looking for porn. Sigh). But basically this means our little girl had three full sets of chromosomes instead of the usual two. The chromosomes would look something like this:



So far, my RE has said by email: "Random event. Not age-related. Not likely to repeat. Not compatible with life."
Wonderfully fast response time with the email, and the info is much appreciated. But he's kind of the king of brevity, no?
At the moment, I am relieved to find out there is nothing I could have done differently, nothing I did to harm the baby. That helps to know. Enormously. At the same time, I am stunned that we're having another random* and unlikely* bad event.
Just to review, here's the line-up of pregnancy disasters over the past two years:
Pregnancy number 1 (9 weeks, after IVF): monosomy x and trisomy 21
Pregnancy number 2 (7 weeks, natural): lab loses sample (aarrrgh!)
Pregnancy number 3 (5 weeks, natural): trisomy 16
Pregnancy number 4 (chemical, after IVF): too early to test
Pregnancy number 5 (9 weeks, natural): triploidy
Oh, and in addition: 5 IVF cycles with 14 good-looking embryos transferred. Fourteen!!!
Are we really unlucky or is it just me?
We meet with the RE tomorrow to discuss options. More to come.
As always, we welcome your thoughts. It helps to know you're out there. And maybe one of you will have an idea we haven't thought of.
Mo
*How often do "random, unlikely to repeat" things have to keep happening to not be random and unlikely anymore? And is it too much to ask for some random good things happen occasionally?