Multiple fetal abnormalities

This feels like a nightmare.  From the moment the doctor answered my question, “do you have any concerns?” in the affirmative, I’ve felt like this is just a terrible dream and any minute I’m going to wake up.

Let me take a step back.  We had our 11w5d appointment with the high risk OB today.  I’ve continued to be very scared that something is going / will go wrong with this pregnancy.  (Every time we have an ultrasound—including today—I brace myself that there will be no heartbeat.)  Even though I’m starting to thicken up, I have not taken any “belly pics,” although I promised myself that if this appointment was normal I would take some at 12 weeks.  That won’t be happening.

We met with the genetic counselor before the ultrasound.  At one point I was like, “let’s just see a heartbeat before we worry about any of this.”  Fast forward to our ultrasound appointment with the ultrasound tech.  We saw a heartbeat!  And a round head!  And she was moving all over and measuring on target and had all her limbs!  Her nuchal cord measurement was normal!  And suddenly I started to believe—this is going to work!  We are actually going to have a daughter!  I was (finally) so excited and happy.

I should have known something was up when she told me to stay on the table with the jell on my belly “in case the doctor wants to take a look.”  And I should have been even more concerned when there was a REALLY long time between when the ultrasound tech left and the doctor came in.  But I was so happy—everything looked good!—that it never even occurred to me that the appointment was about to go downhill.

The doctor showed up and started asking us gentle questions about our loss history (get another sheet of paper).  Then he said he wanted to take a look at some things.  The way he said it shook me out of my happy haze.  I said, “do you have any concerns?” And he said yes right away.  

He started the ultrasound by looking at her abdomen and confirmed there was a problem.  He saw an omphalocele—a birth defect in which the contents of the abdomen push out of the abdominal cavity.  A “small” one occurs in 1/5000 pregnancies, where only the intestines are outside of the body.  A “large” one occurs in 1/10000 pregnancies.  They could include liver, intestines, and other organs.  (Interestingly, chromosomally normal fetuses are more likely to have “large” omphaloceles, and chromosomally abnormal fetuses are more likely to have “small” omphaloceles.)  We are so early he could not tell how bad it was, but it looked like her heart and bladder were not in the cavity, so that was good.  He said there was a (very very small) chance that it could resolve because we were still early in pregnancy, so he wanted to see us again next week to confirm. 

About 30% of babies with omphaloceles also have chromosomal issues, and those babies often have other serious issues, so their survival rate is about 1%, and if they do survive they have severe disabilities.  About 50% (or more?) of babies with omphaloceles have other birth defects, frequently heart defects (35%).  The overall survival rate of babies with omphaloceles is about 77%, and their chances are better the longer they gestate.  Babies born with larger omphaloceles have worse outcomes, and babies with other birth defects have worse outcomes.  (Babies born at 35+ weeks with an omphalocele but no other issues have a 97% survival rate.)  While an omphalocele may appear isolated during pregnancy, a substantial number of babies born with omphaloceles that appear isolated (26-40%) have other issues.  Up to 89% of babies with omphaloceles have other structural abnormalities, including cardiac defects (50%), gastrointestinal defects, clefts, neural tube defects, etc.

Then he spent a long time looking at other things, and pointed out that her spinal cord had not calcified yet.  (In other words, it looks like she is missing her spinal cord.)  He said he would expect to see a bony spinal cord at this point in development.  He was hesitant to give a firm diagnosis yet, because he said that they can’t diagnose this missing spinal cord it before 12 weeks, so he would want us to come back next week for a further check.  But he’s concerned that there is not the ossification of the fetal spine that one would expect at this point.  And he was not able to diagnose whether she had spina bifida (a neural tube defect) without being able to see a spine.

It turned out he was looking to see if the baby had OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex—a very rare [like 1/400,000], but very, very bad cluster of defects.  He was hopeful she did not have it because although she appears to have omphalocele and spinal defects, her bladder appeared to be in the right place and not through the omphalocele.  So she does not appear to have bladder exstrophy.  (It’s too soon to tell if she has an imperforate anus.)

He also pointed out a bubble about the size of her little body sitting on her abdomen above the umbilical cord.  He said it was a cyst on the umbilical cord.  I was so out of sorts I did not even ask further questions about it.

Of course I was crying uncontrollably through the appointment, so it was hard for me to even formulate questions, and he was clearly very hesitant to give us a diagnosis at this point.  But he said that for the omphalocele, they can be mild to severe, and many can be corrected with surgery.  He was much, much more concerned with the lack of calcification.  He said that if she is missing a spinal cord, there could  be lots of reasons / syndromes that cause it, but no real hope that she would have any kind of a life.  The doctor said he could give us a list of potential causes for a spinal cord that had not ossified, but my husband asked him not to, as my husband thought I would just spend the next week reading about all of them and making myself miserable.

The doctor was very sensitive to how devastated we obviously were (and shared that he and his wife had recently had an abnormal nuchal cord result), but suggested that we just need to come back next week to get more information.  He also wanted us to meet with the genetic counselor again.

The meeting with the genetic counselor was a long one.  We discussed further chromosome testing because some babies with omphaloceles have them.  Obviously because we had PGS with our embryo, our chances are lower of having a chromosomal issue.  But that testing is not 100% perfect.  And it’s also possible that we have a non-chromosomal genetic issue, some of which can be tested for.  If we wanted to do further testing, we had the choice of doing a number of different blood tests, chorionic villus sampling (CVS) test, amniocentesis, or nothing.  

The different blood tests just test for chromosomal abnormalities (and targeted disorders? I’m a little unclear on this).  Because there’s a small chance of chromosomal abnormalities (PGS tested embryo), we decided to do more invasive testing that can give us information about chromosomes AND other things (discussed below).  So we skipped the blood tests.

A CVS can be done as early as 10 weeks.  The doctor will take a sample of the placenta either through your abdomen or vagina (depending on the position of the baby).  (They use a local anesthetic and a long needle.)  This test has about a 1/100 risk of miscarriage (we were told that an experienced doctor should have a lower complication rate, and that because our office is experienced it is probably more like 1/200 risk of miscarriage, and in fact none of the doctors at that practice have ever had complications), and if it is going to cause a complication it would be within days of the test.  It can diagnose chromosomal abnormalities with 99% accuracy.  It can also diagnose certain genetic conditions with similar accuracy, although it does not test for neural tube defects.  I’ve read it’s not recommended for women who have experienced vaginal bleeding during pregnancy.  (Hmmmm.)  Results can take 1-2 weeks.

We were offered, as an alternative, an amniocentesis, but that test cannot be done until 14 weeks.  (Although at our office it sounds like they do not like to do them before 15 weeks.)  It’s preferable to a CVS because the risk of complication is far lower—less than 1/200 (although we were told that at our office the risk might be closer to 1/1000).  Like a CVS, it tests for trisomy 21 (down syndrome), trisomy 13, trisomy 18, fragile X, and some other disorders.  It also tests for neural tube defects (by alpha-fetoprotein levels).  Results take 2 weeks.  

Originally my husband wanted to go with the amnio because of its lower risk of complications.  BUT because it looks like we have a potentially really severely fucked up baby, I thought more information earlier was worth the risk.  (If we did an amnio at 15 weeks, we would not have results until 17 weeks.  The idea of terminating another pregnancy that late… I just can’t.)  We decided to split the difference.  We’re going to do another ultrasound next Friday at 12w6d.  If things still look really bad, we’ll do the CVS.  If we suddenly have a spinal cord, we might hold off for the amnio.  (Although because we have a PGS tested embryo, and because only 12% of embryos with omphaloceles have something that can be diagnosed with either test—as discussed below—we might reconsider.)

So, here’s the question, what will the CVS/amnio really tell us?  Well, omphaloceles are “common” with trisomies 18, 13, and 21.  (3% of babies with omphaloceles have trisomy 13, 2% have trisomy 18, 1% trisomy 21.)  We might find out that we’re the 1/100 that had an inaccurate PGS result.  And knowing we have a fetus with trisomy 18, 13, or 21 would give us a lot of information about what we were looking at.  The test will also look for Beckwith-Wiedemann Syndrome, a 1/15,000 syndrome that has lots of other bad stuff.  (6% of babies with omphaloceles have Beckwith-Wiedemann Syndrome.)  That would also give us some more information about what we were looking at.  There’s also a really good chance that the tests will do nothing more than rule these things out.  (As shown above, more than 85% of babies with omphaloceles have none of those things.)

My head is spinning.  I need to sleep on this.  But I think there are pretty good odds this pregnancy is going to end.  I’m absolutely devastated.