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

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Call from the geneticist

I finally spoke to the geneticist on the phone, and I want to cry.
She said the case conference was attended by staff from the cytogenetics lab, several geneticists, IVF folks, and at least ten genetics counselors.
You might think with all those smart people in one conference room, there would be some answers.
But if you're thinking that, you'd be wrong.
The consensus of all of this brain power? In terms of evidence based medicine's take on this, our risk of another aneuploidy is the same as the population risk for my age group (age 37), so something like a 1 in 150 or 1 in 200 chance. This is very hard to swallow and everyone seems to question whether this is or is not accurate, but it's as far as medical science can get us in terms of data-driven statistics at this time. Not very satisfying.
We have normal karyotypes, so that's not the problem. Any increased risk from radiation exposure secondary to all of the medical imaging I've had cannot be quantified (Direct quote: "No one knows"). Going back to the old tissue and making an attempt to determine the parental contribution of aneuploidy (i.e., was it the egg or the sperm in our three chromosomal losses) would apparently be getting pretty out there in terms of lab expertise, and although it can be done (we asked), it would be lengthy and expensive, and they really think the problem is with my eggs ("It would really be just an intellectual exercise").
Basically, the geneticist said that our problem could be just age-related and/or we could have a spindle problem (the spindle helps the chromosomes from the egg and the sperm line up so they touch in the right places), and/or a docking problem, and/or a problem with the gene that controls the spindle (and this gene has not been discovered yet - ha!), but these are all theoretical guesses and there is no way to test for them at this time.

"One of the big problems here," she said, "is the Why. And no one will be able to prove any of these hypotheses."
From her chart note: "There are several forces at play. One is the desire to understand the basis for their history of reproductive loss, which I think is reasonable. There does not really seem to be a satisfactory explanation" (emphasis mine).
And that's the rub. It feels like the bottom line is that we are not going to get an explanation. And we aren't going to know what our real risk is going forward.
Apparently, there were some at this conference who asked why we sought "more" genetic counseling. The geneticist defended us to them, saying that of course we need answers, that we are grieving and trying to make sense of why this keeps happening to us. And what is the harm in trying to get more information? Hear, Hear geneticist! You tell them!
The geneticist said she ran the information over and over in her mind during the weekend, trying to make sense of it. She said that she's only met us once, but our history is terrible, and that we need to think about how much more of this we can go through. She said she kept trying to think about us as human beings, not just an egg and a sperm. And that the financial, personal, and physical toll this must be taking on us is great. She said twice that she was amazed that we could tell our story without breaking down into crying, then said (both times) to herself, "You must cry at home. Your story is so sad." Believe me, geneticist, we have cried a lot.
She recommended that we begin moving toward a solution - pick a direction to head in and also pick a point at which we are going to stop. In the meantime, she suggested we begin pursuing other avenues to build a family concurrently, such as using a donor egg or adoption. She said we need a way out of this sooner rather than later and that we should really consider pursuing options simultaneously (e.g., try on own, but start looking for a donor or sign up to adopt) so that we can begin our family one way or another.
At the end of the call, she asked me to keep in touch and let her know what happens. "We are all really very interested," she said, "and we are hoping for a good outcome."
"Thank you," I said. "So are we," and hung up the phone with tears in my eyes.
I'm not sure why I am so sad, except that when she went over the options (1. try on your own; 2. do new IVF cycle with PGD; 3. do IUI), it sounded just like my own ruminative thoughts circling around and around with no answer in sight. And I think I'm now facing the fact that we're not likely to get any good answers. Ever.
More than that, it's hitting me like a ton of bricks that no one is going to give me permission to stop. I think that without realizing it, I've been unconsciously hoping that someone will be able to tell us that it just is not going to happen, so that I can stop with a clear conscience that I didn't give up too early, just when we were about to succeed. Somehow having to just make an arbitrary decision about when to stop feels like it makes all of this more my fault than it already feels. Without this "permission," I'm afraid I'll feel that not only are my eggs crap, but I'm a quitter too.
I really appreciated the time the geneticist took with us. And especially the fact that she tried to consider all of the issues comprehensively, including the reality that Will and I are two sentient beings, not just a clump of cells in a petri dish.
At the same time, I feel filled with longing and grief that we will probably never find an answer as to why we've had so many miscarriages, nor will we get a good read on what is the best direction to go in from here. Which feels like another loss. Nonsensical, I know, but there you have it.
Mo

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?