11 weeks, NIPT, and Outlander spoilers

Sorry it’s been awhile since I’ve checked in. Last week was finals week, and the weeks leading up to it were a bit hectic, as usual.

A week ago, we hit the 10 week mark, which meant I could do a phone consult with the genetic counselor and have my blood drawn for the Non-Invasive Pregnancy Test (NIPT, which I’ve written about on this blog before, here).

I scheduled my appointment for the earliest slot they would let me, on Monday afternoon, and drove to the hospital for my blood draw the same day. As we have in each pregnancy, we checked the box to learn the gender of the baby at the same time. Then, we anxiously awaited the results. (The genetic counselor had said it would be “about a week”, but since I knew I had made it in time for Monday’s FedEx pickup, I was hopeful for a result on Thursday or Friday.) More so than with our previous pregnancies, I worried that this baby might have a chromosomal abnormality, both because of my age (my baseline risk now – at age 38 – is 1 in 50), and because after losing Jane, we no longer feel immune to even improbable adversity…

Thankfully, I had a full week of to distract me from thinking too much about it, with a speaking gig at a chemistry symposium at a nearby university Tuesday, and tickets to Hamilton (!) in San Francisco on Wednesday night. C had accrued enough points on his Ritz Carlton business card for an overnight stay, so we spent Wednesday night in style in the city before returning to reality. While away, I checked my email every 10 minutes for the message from Kaiser, which I finally got on Friday morning in the airport bathroom…

The subject line was “Good News!”, which came as no small relief. I waited until I was sitting with C to open the email and learn the gender of our little peanut.

If you had asked us before Friday what our preference was, we would have told you we preferred a girl – not as a replacement for Jane, but maybe as another chance at the imagined future we felt that we had lost with her: mother-daughter mani-pedis and father-daughter dances, a trip to England to visit Jane Austen’s house, C walking her down the aisle… On the practical side, a baby girl would also be able to make use of all the never-worn, adorable pink outfits and dresses still hanging in Jane’s closet.

The letter showed that we have a chromosomally-normal boy! And we are honestly so excited. We love the idea of a brother for C. Samuel (I actually had wished that Jane was a boy before I knew!), and I feel very comfortable cementing my identity as a “boy mom”, which seems easier in many ways. And while we aren’t totally ruling out the possibility of a third child, I have to admit that there is something romantic about the idea that Jane was our girl, and that we won’t have another.

***

In other news, in between late nights grading, I’ve been making my way through the Outlander series on Starz. It’s my guilty pleasure on nights when C isn’t home or goes to bed early. I really like the main characters (especially Sam Heoghan’s Jamie Fraser, sigh!) and the sets and costumes. The story isn’t as compelling or the dialog as clever as, say, Game of Thrones, but I enjoy it enough to have purchased the first two seasons on Amazon. That said, if you are easily disturbed by violence, you’d probably want to take a hard pass. Continuing with the GoT comparison, Outlander is not nearly as skull-crushingly gory as GoT…but I found several violent scenes to be at least as emotionally disturbing as anything I’ve seen on GoT.

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I just had to add a photo of Heoghan (source and more photos)

At this point, I should give a SPOILER ALERT. If you think you might want to watch Outlander, or you are watching and haven’t yet made it into Season 2, Episode 7, then for heaven’s sake, don’t read further!

***

So, for those of you still here, the reason I bring up Outlander is that a) I just watched S2 E7 Friday night, and b) stillbirth figured prominently in the episode. It’s actually not the first time I’ve seen a stillbirth on TV since losing Jane. The first was in the series premier of This is Us. (I don’t even feel bad about spoiling that one, since it’s like halfway through the SERIES PREMIER and is not even the big surprise of the episode!)

I felt both portrayals were well done, and yet, neither initially felt like our experience.

In This is Us, the expecting couple goes in to deliver their babies (like us), who are triplets (not like us), and then have complications during delivery that result in the loss of one of the babies. We never see the baby that was stillborn, nor do we see the mother’s initial reaction to the news until a later episode. What we do see is a touching conversation between the obstetrician who delivered the babies and the young father. We see the father’s initial confusion and denial, and learn that the obstetrician had a stillborn child that motivated him into choosing to pursue obstetrics. The moment felt very real; the message, about making lemonade out of “the sourest lemon life can give you”, while undoubtedly hokey, feels honest and welcome, especially coming from someone who has been there.

In Outlander, the expecting mother is subjected to an intense situation that spurs early labor (not like us), then she is semi-unconscious, confused during delivery (not like us), and only learns that her child is stillborn after the delivery is over (not like us). The whole sequence took place in the first few minutes of the episode, and left me feeling very little. I felt guilty for eating chips and salsa through what I felt should have been a very emotional scene for me, but I didn’t feel much empathy for the character (who I really like and am generally very invested in). Another variable that undoubtedly affected my experience was the inclusion of a flash-forward at the start of the episode, that shows the same character with her future child. So we know from the beginning that she will eventually go on to have another child.

Then, as she is retelling the story to her husband (who wasn’t present for the birth), we see in a flashback that she in fact did get to see and hold her baby…

And there it was – the ‘real’ moment that got me. I cried as she lovingly and carefully examined her baby daughter’s hands and feet, remarking on the color and texture of her hair. I cried as she cradled her, and sang to her. And I cried especially hard when, after holding her daughter for hours, she reluctantly handed her over to be prepared for burial. It was heartbreaking, and beautiful, and exactly how I remember feeling.

Is there a sudden spate of authentic stillbirth story lines in television these days, or were they always there and I just wasn’t paying attention? Either way, I’m grateful to see elements of our experience portrayed for a wide audience. In both cases, the friends and loved ones of the grieving parents responded so well – never minimizing the loss (even in This is Us, when the couple had two healthy babies to take home); in the case of Outlander, they gave the baby a name, commented on how beautiful she was, and asked to hold her – like our loved ones did for Jane. ❤

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Halfway there

It’s funny, when you can’t get pregnant, it feels like all you do is wait – for test results, your period to come, the next treatment cycle, or the dreaded two week wait. Time crawls by, marked by morbid milestones like big birthdays (Hello, Advanced Maternal Age), would-be due dates, number of years spent trying to have a baby, and so on…

But ever since I’ve made it past the nail-biter of a first trimester, time has flown by. Suddenly I’m halfway through the pregnancy wondering where the last two months went!

After the third email from a bloggy friend checking whether everything is alright, I have no choice but to admit that it has been far too long since I’ve written. For that I am sorry. (As always, I have been reading – celebrating, mourning, and above-all praying – right along with each of you, bloggy friends!)

Rest assured, all is well with me and Baby.

The day after my last post, I went in for the nuchal translucency ultrasound (part II of the so-called California Prenatal Screen). Seeing our baby in high-def should have been extremely cool, except that:

1)      I hit unexpected traffic on the way there, which caused me to panic that I would lose the appointment. (If you’re late at all to the full-bladder appointments, you have to reschedule…and get your bladder uncomfortably full again.)

2)      Despite following instructions to the letter, my bladder wasn’t full when I got there (maybe the traffic stress slowed things down?), and the technician made me feel rotten about it.

By this point, I was so stressed out that when the baby appeared on the screen, I found myself asking whether the technician could tell us if it was alive. She gave me a weird look as the baby on the screen proceeded to wave its arms and swallow gulpfuls of amniotic fluid…

3)      Then, I outsmarted myself…or not. After writing my previous post, I was convinced that I knew what I should be looking for – namely a nuchal translucency that was around 2 millimeters (or less) in width. So far so good, except that the measurements the technician was making were in centimeters. Embarrassingly, when this so-called-scientist saw the numbers creeping up to 0.18, 0.19, 0.21 cm, I was convinced that this was the equivalent of 18-21 millimeters! (For those of you who aren’t up on your metric system, 0.20 cm is equal to 2.0 mm.) Worse, my husband – the pediatric dentist who works on millimeter scale every day (or did, prior to the accident) – didn’t catch my error.

It wasn’t until we were outside the hospital that we realized something had to be off with our calculation.

Think about it, how could a baby the size of a peach (~3 inches from crown to rump) have the skin on the back of his neck be 21 millimeters (nearly an inch) thick?!

About an hour and a half later, I got the call from Kaiser telling me that everything was totally normal. Based on the combination of the 1st trimester blood test and the ultrasound, they adjusted my probability of having a baby with Down syndrome (from my original age-based estimate of 1 in 296) to an adjusted estimate of 1 in 5,000; and the probability of a baby with Edwards syndrome (originally 1 in 1152) to 1 in 95,000.

Several days later, on Friday afternoon, I got the call with the results from the NIPT blood test. (This was the brand new, more-accurate, qPCR-based blood test that I described here.) The test revealed that we were having a chromosomally-normal boy!

Great news…which I again managed to mess up in translation. But first, some unsolicited advice:

Do not tell your husband the gender of your baby-to-be in a text message.

I should explain. After waiting impatiently for the results of the NIPT scan, I finally got the call on Friday afternoon – while in a one-on-one meeting with my boss. Unwilling to wait until Monday for the news, I apologized to my boss and quickly left to take the call. Then, after learning such amazing news, I wanted to tell C immediately. (Somehow me knowing for more than a few minutes longer than him seemed horribly unfair.) But, I also felt an urgent need to return to my boss to apologize and continue our meeting…

So I sent C a text message.

He will never let me live it down.

Anyway, that was all our test news. I’m sorry to leave you with a cliffhanger for the last 7 weeks!

Other highlights of the last two months:

  • I ‘popped’ during Thanksgiving dinner. Once I switched to maternity pants, there was no going back…
  • I felt the first fluttering of movement on Christmas morning. It felt kind of like an upset, rumbly stomach, except without any feelings of queasiness. Feelings increased over the last weeks, so that now it actually feels like something is lightly tapping on me from the inside. After so much uncertainty, it is the most reassuring, wonderful feeling to know that he is alive and kicking in there! His most active time is from ~5-7am each day. The last few mornings I swear he has been doing cartwheels in there…
  • The Board of Trustees approved my promotion to Associate Professor (starting in Summer 2014)!
  • Saturday we hit 20-weeks. Say what?!
  • C felt movement for the first time on Sunday morning (during one of Baby’s gymnastics sessions).
  • We celebrated our 2nd wedding anniversary on Tuesday. Thanks in large part to our struggles with infertility and C’s life-threatening traffic accident (10 months later, it’s still causing him considerable pain), we’ve never been closer. I’m so glad I get to spend the rest of my life with this man!
  • Yesterday was our 20-week high-resolution ultrasound. The ultrasound technician wasn’t allowed to make any evaluative comments, but she narrated as she went, so we were able to count: two arms, complete with hands and five fingers on each; two legs with two adorable feet and ten toes; one stomach; one, four-chambered heart; two kidneys; one placenta; one umbilical cord (with blood flowing to the placenta); one head with a two-hemisphere brain (measuring 20w6d); and – oh yeah – a penis. (No surprise there, given our NIPT result, but it was nice to see it nonetheless!)

That’s about it. Now that my belly is swelling and I can feel ‘Baby Lou’ doing gymnastics in there, I’m actually letting myself believe that this is going to happen (although that doesn’t prevent me from middle-of-the-night panic attacks that something is wrong, like yesterday at 4am…) I’ve even relaxed enough to allow myself the occasional half-glass of wine, coffee, or Diet Coke. (Before you sic the Pregnancy Police on me, read this, or, if you prefer, this.)

And now, I’ll leave you with a picture of the beautiful flowers C got me for our anniversary. I’m enjoying the soft scent of lilies as I type this. 🙂

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Advanced Maternal Age

One week ago I turned 35. In pregnancy terms, this makes me officially old.

Visit with the genetic counselor

On Thursday, to celebrate, I got to meet with a genetic counselor through Kaiser (a meeting recommended for AMA women like me). Here’s what I learned:

At 35, my risk for chromosomal abnormalities is much higher than it was at 25. (Okay, so I already knew that!) The counselor was kind enough to point out that – despite the medical community’s black-and-white labeling method – there is nothing magic about the age 35. My risk increased slightly every year, so that now my risk of conceiving a baby with:

  • Down Syndrome (aka Trisomy 21) is 1 in 296
  • Edwards Syndrome (aka Trisomy 18) is 1 in 1152
  • Any chromosomal disorder is 1 in 134

(When you think about the fact that a few months ago, I was looking at odds of successful IVF with my eggs as about 1 in 4, 133 in 134 odds of having a chromosomally-normal baby really don’t look all that bad…)

I also learned a bit about the different disorders. Down syndrome (a disorder arising from three copies of chromosome 21, hence the name trisomy 21) is the most common, but is actually somewhere in the middle of the spectrum in terms of severity and prognosis.

Trisomies 13 (Patau syndrome) and 18 (Edwards syndrome) are more serious. The vast majority of babies with these disorders don’t survive a year. Those that do have severe disabilities.

Then there are the ‘milder’ sex chromosome disorders, like Klinefelter syndrome (in which baby boy gets an extra X chromosome, to get XXY) and Turner syndrome (in which baby girl gets an extra X, to get XXX). These may lead to slight reductions in cognitive function, health problems (e.g. diabetes in the case of Turner syndrome), abnormal physical characteristics (e.g. webbed neck in the case of Turner syndrome, small testicles and man boobs in the case of Klinefelter syndrome) and infertility. (I have to admit to finding it perversely amusing to think about infertility as the most minor of possible birth defects.)

(In case you’re wondering, XYY is also a possibility, but one that apparently doesn’t lead to any noticeable difference in cognitive or other abilities…)

 

Prenatal Screening Tests

To find out my likelihood of having a baby with one of these disorders, I was offered a variety of screening options.

I. California Prenatal Screening Program (PNS)

The first was the California Prenatal Screening Program. The charge for this test is $160 (fully covered by my insurance), and I found it interesting that that the money from all the women who get screened gets thrown into a communal pot. Uninsured women who get a positive screening test are eligible to use funds from the pot to pay for follow-up tests (like amniocentesis), and further prenatal care. Kind of cool.

Anyway, the California Prenatal Screening includes up to three different elements:

A.  A first-trimester blood test that measures levels of two molecules:

  1. human chorionic gonadotropin (hCG) – the protein hormone that’s used to confirm pregnancy in both home pregnancy tests and blood pregnancy tests, and
  2. pregnancy-associated plasma protein A (PAPP-A) an enzyme that chops up other proteins

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First trimester hCG levels tend to be a bit higher in Down syndrome pregnancies than in normal pregnancies, while PAPP-A levels tend to be a bit lower in Down syndrome pregnancies than in normal ones. Here are some figures I found on the interwebs showing the rough trends. In one-dimension:

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In two-dimensions (hCG is on the x-axis; PAPP-A is on the y-axis):

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Notice that there is a large overlap between Down syndrome and normal pregnancies in each plot. The genetic counselor also assured me that the levels change significantly over the course of the pregnancy, so a correct pregnancy date is crucial for an accurate result. Ultimately, this one blood test alone is insufficient to reliably predict Down syndrome risk, which is why the CA screening folks won’t give a result until they have at least one other piece of data, such as the following:

B.  A high-resolution ultrasound called nuchal translucency (NT) ultrasound is used to measure the thickness of a fluid-filled ‘translucent’ layer in the baby’s neck. More fluid in the neck is correlated with higher risk of congenital heart defects, which in turn is correlated with Down syndrome.

Here’s a figure showing normal (right) and Down syndrome (left) NT scans:

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As with the blood test, this is all based on correlations, and just gives probabilities. (We infertiles just love probabilities…) Anyway, it is far from diagnostic.

These first two tests are sometimes referred to as the first trimester screen.

C.  The final data point that can be used as part of the California screen is a blood test in the second trimester. This test is sometimes called the quadruple test or quad screen, as it measures the levels of four molecules:

  1. human chorionic gonadotropin (hCG, see above)
  2. α-fetoprotein (AFP) – the most abundant plasma protein in human fetuses; its function in humans is unknown; AFP levels are elevated in pregnancies of babies with certain birth defects, including Down syndrome and neural tube defects like spina bifida.
  3. unconjugated estriol (UE3) – a  steroid hormone produced in pregnancy; low levels of UE3 may indicate chromosomal abnormalities
  4. inhibin A – a protein that inhibits follicle-stimulating hormone (FSH) production; inhibin levels are especially high in cases of Down syndrome, and especially low in cases of Edwards syndrome

 

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Like with the first trimester screen, the specific levels of these molecules can either more closely resemble a ‘normal’ or a ‘Down syndrome’ (or other chromosomal abnormality) pregnancy.

Even with all three data points, the best the CA screen can do is give probabilities of an abnormality. A probability of 0.5% (1 in 200) or greater is considered a positive test. In other words, the vast majority of women who get a ‘positive’ screening result will go on to have normal babies.

 

II. Non-Invasive Prenatal Test (NIPT)

The genetic counselor informed me that I’m also eligible for a very new blood test called the Non-Invasive Prenatal Test (or NIPT). This test is so new that Kaiser just began routinely offering it to women over 35 in June (which may explain why my OB failed to mention it in our first prenatal visit…even after C and I had made it clear that we wanted every non-invasive test available…)

This test is also a blood test, but instead of measuring the levels of proteins and small molecules in my blood, the NIPT looks at fragments of DNA in my blood. This post is getting rather long, but I’ll try to give the basic gist.

Apparently if you looked at all the DNA in my blood right now, about 10% of it would actually be pieces of DNA from my baby’s blood. Unfortunately, there’s no easy way to recognize which DNA is from me and which is from baby.

It is, however, possible to extract the DNA soup (including mine and baby’s) from my blood, and then make copies of certain portions of DNA from certain chromosomes. (For any biology types, they use quantitative PCR for this.) To detect Down syndrome, they make copies of a piece of DNA that only appears on chromosome 21, along with copies specific to several other chromosomes. Then they compare the amount of chromosome 21-specific copied DNA to the amount of other chromosome-specific copied DNA.

  • If the amounts are the same, it suggests that there weren’t ‘extra’ copies of chromosome 21 floating around to begin with, and that my baby probably does not have Down syndrome.
  • If there is an excess of chromosome 21-specific DNA, it suggests there were extra copies of chromosome 21 in our combined blood. Since we are pretty sure I don’t have Down syndrome, the most likely explanation is that my baby does.

This test catches a higher percentage of Down syndrome cases than the California screen (99% versus 90-95% for the combined CA screen), and has a much lower false-positive rate. (The detection rate is a bit lower for some of the other chromosomal disorders, for reasons that I haven’t taken the time to investigate.) It doesn’t, however, give any information about neural tube defects (which the California screen does), and it still does not give a definitive yes or no answer. For that, one would have to do chorionic villus sampling (CVS) or amniocentesis, both of which actually look at the full set of chromosomes in baby’s cells.

 

What I did

So, if you’ve been reading this blog for long, you know that I’m a sucker for data, so perhaps it comes as little surprise that I requested both tests. I gave blood for part A of the California Prenatal Screening right after my first OB visit three weeks ago. No doubt my results are sitting on a computer somewhere, but they won’t release them until I’ve completed my nuchal translucency ultrasound (part B)…which I’ll do bright and early tomorrow morning.

Last Thursday, after my meeting with the genetic counselor, I gave a blood sample for the NIPT. I’m told the results of that test should come back to me within a week. (Oh, and did I mention, the NIPT will also tell us baby’s gender?!)

Given that the NIPT is so much more accurate than the California screen, one might argue (as the genetic counselor sort of did) that the NT ultrasound is a waste of time. For one thing, there’s a decent chance that the CA screen may indicate an abnormality, while the NIPT may come back normal. If that happens, it may indicate that baby has a chromosomal disorder but is in the very small percentage of cases that are missed by the NIPT. Or, it may mean that baby has no chromosomal disorder, but has an unrelated congenital heart defect (giving rise to the thicker-than-usual nuchal translucency). Or (most likely) it may mean that baby is fine and the CA screen gave a false positive.

The uncertainty could easily cause a lot of stress, which is why the genetic counselor was careful to make sure I didn’t choose it blindly. I’m probably being a bit naïve (or arrogant?), but I’d like to believe that I could think logically about the likelihood of each possibility and handle any ambiguity that might arise.

Also, I really want to see my baby in high resolution.

 

What if?

In all this talk about the science behind these screening tests, I’ve conveniently avoided the most important question that all this brings up.

Namely, what will we do if the screening tests (particularly the NIPT) show a chromosomal abnormality?

The short answer is, I don’t know.

After all that we’ve been through, it’s hard to imagine choosing to terminate this pregnancy under any circumstances. In particular, I don’t think I’d terminate if faced with any of the ‘mild’ abnormalities (Turner or Klinefelter Syndrome). I don’t even think I’d terminate in the case of Down syndrome. (The way I see it, this may be my only chance at genetic parenthood, and I’d rather be mom to a child with Down syndrome than to no child at all…)

The decision gets harder for the ‘severe’ chromosomal abnormalities – trisomy 13 or 18. Could I continue with all the emotional and physical pains of pregnancy and childbirth, knowing that my baby would in all likelihood not survive infancy?

On the other hand, could I choose to end a life – my baby’s life – even knowing that it wouldn’t live long anyway?

I just don’t know.

And then there’s the fact that this isn’t just my decision. This decision would affect C too, and we’d need to somehow arrive at a plan together.

It’s enough to make me think that the people who refuse to test are on to something. Perhaps mothers like me – who aren’t prepared to terminate yet do decide to test – are just betting on a negative test result so that we can enjoy rest of our pregnancies with one less thing to worry about…

Well, I’ve already placed my bet, so all I can do now is wait and hope that my big gamble pays off.

I’ll keep you posted.