Nuchal Translucency Testing: my personal experience

I think it might be safe to say that my early pregnancy may have been some of the most confusing days of my life… 

There have been many times in my life when some ethical question has been raised that was “fun” to ponder over. Or maybe I’d even get defensive, or step onto some moral high ground about what is clearly the “right” thing to do in this scenario. Most of the time, I enjoy arguing both sides and trying to persuade myself that they have equal validity ethically, which is what makes them an ethical puzzle in the first place. 

My first exposure to genetic screening for prenatal care was actually as a family medicine physician. I learned some basic things, listened to some of my teachers and attendings explaining the testing to patients, and then started counseling patients myself. Like many things that I repeat often (informed consent, etc), I developed a sort of script that I would repeat to each patient. It went something like this: “There is genetic screening available for you. It is covered by your insurance. It is completely optional. It’s important to realize that it is a screening test only, which means that if you decide you want to get this testing, you need to decide what you want to do if the results are positive. If they are positive, you will be expected to have some sort of invasive diagnostic testing like amniocentesis to confirm the diagnosis. If that is positive, then they will expect you to make a decision again about what to do about the results. If everything is negative it will be easy. But the reason these tests exist is to find the people who screen positive. If you already know you don’t want to have invasive testing, or if you don’t want to know if you have a fetus with a genetic or chromosomal abnormality, or if you have no intention of terminating the pregnancy no matter what, you may not want to get this screening. It is good to think about what you would choose in different scenarios before you decide to get this screening. It should be an active decision.” 

Fast forward 4 years and I am pregnant with my first child. I decided despite some hesitation to get genetic screening done. I think I ultimately decided this because I had some problems with bleeding during the first trimester which introduced the possibility that something was wrong with this pregnancy, despite having seen the heartbeat on ultrasound twice by now. I have always said that I would not be willing to get invasive testing or to terminate a pregnancy, but I persuaded myself of two dangerous things: 

1) My screening will be negative. 

2) If something is wrong, I would like to know early to emotionally prepare myself.

Well, guess what? My very first screening test was abnormal. I went in for my 13 week screening prenatal ultrasound and watched fascinated as the fetus moved it’s arms and legs around, turned its head, had a spine, and 2 clear hemispheres of its brain, 4 chambers of a heart, and even sucked on its thumb. It had every appearance of being healthy and distinctly human. My husband and I sat smiling while the ultrasound technician left the room and we waited for the doctor to come in. When the door opened is the moment everything changed. He sat down with a serious expression and proceeded to tell us “While we couldn’t get perfect pictures or measurements, it appears subjectively that the nuchal translucency is enlarged. This finding is associated with chromosomal or heart problems. You can get a CVS this Thursday or Friday (2-3 days) for a definitive diagnosis or further blood testing which would only alter your screening risk. Either way, I’d like you to see a genetic counselor on Friday and get a fetal ECHO at 22 weeks.”

These are the sentences that started the muddy blurry hazy mess to follow. My first response was anger. Of course I screened positive. This is exactly what I feared and what I warned my own patients about… The screening test that tells you, “Everything is probably fine, the odds are still in your favor, but something is not quite right. If you really want to know, you need to do something invasive.” I walked home alone mostly numb. I didn’t know what to feel or think yet. It all seemed surreal. What just happened anyway? I walked into my apartment and sat on the sofa and stared ahead. Finally, I decided I wanted to talk to my mom. I called her and I cried to her. She supported me through as she always does. 

The emotions to follow went something like this: 

1) Confusion/Doubt. So… you didn’t get perfect pictures or measurements, but your subjective sense is strong enough to recommend CVS in 2-3 days?? An invasive, painful test that has a risk of miscarriage, limb defects, and infection? Based on no other information whatsoever? This seems so crazy and alarmist to me… 

2) Anger. Medicine is full of these scenarios, unnecessary testing on low risk people. Expensive, diagnostic nonsense based on a screening test with a ridiculously high false positive rate. This is a bunch of crap and I wish I hadn’t done this stupid screening test.

3) Fear. What if it is true? This finding raises my risk of chromosomal defect to 1:6? 1:6!!! That is an insanely high risk score for a serious problem!? And I haven’t had a normal pregnancy, I had bleeding in my first trimester leading to stress and scare and ER visits. Something is probably wrong. And the only way for me to know for sure is to get this CVS or amnio to find out. 

4) Depression. What am I going to do with this result? Can I knowingly carry a fetus to term with a chromosomal problem? What kind of life will they be able to enjoy? How will it impact my life? How can I call myself a mother if I am willing to voluntarily end a life that I created? What kind of arrogance do I need to conjure to persuade myself that this is even my choice in the first place? This cascade is out of my hands at this point, and I am helpless. Why would I get further testing knowing that I could never forgive myself for terminating a pregnancy. 

5) Irrationality. I will google everything I can possibly find and take everything I read as a fact, including information on Australian mommy blogs. 

I went through days of reading and thinking and pondering, and yes sleeping more than humans usually do because it gave my brain a break. I had a rough call shift on Thursday night, then finally, after working a 24h shift with no sleep, prepared myself to meet with the genetic counselor and get a CVS done for definitive diagnosis. I talked with my regular OB and the genetic counselor for several hours. Questions poured out of our mouths like fountain water. There was no end, then finally there was… We sat quietly for a few minutes and I said “Well, I guess that’s all the questions we have for now.” The genetic counselor let down her statistician face and looked at me like a fellow woman and said, “I know it sucks that we can’t give you answers.” 

I swam in a pool of numbers and statistics and probabilities and likelihoods and false positives and false negatives and the consequences of further screening vs definitive diagnostic tests. I persuaded them to repeat the nuchal translucency and this time they were able to get good pictures. Still abnormal. Decision time. The MFM doctor came in and said, somewhat brusquely, “So now we repeated the tests with the same results. We didn’t really need to repeat it anyway. We have the information. Now what we want to know is what you want to do with it.” It was something about this offensive introduction that made me realize what I wanted to do, NO. I will not let the medical system bully and digest me further and further into its insatiable belly. My head was screaming, “NO, I DON’T WANT CVS LEAVE ME ALONE THIS IS COMPLETELY RIDICULOUS.” Instead, I quietly answered him, “I’m not ready for invasive testing, I think I’ll get the cell free DNA blood test for now.” He paused, then literally said to me, “You understand that the cell free DNA test will not give you a diagnosis, right? The only way to know for sure what is going on now is to get the CVS. So the real question is whether you can forgive yourself if your baby is born with a problem in 5 months that you could have gotten diagnosed now.” I wanted nothing more than to get out of that room. Yes, I understand that doctor. Yes, I am racking my brain killing myself over this decision. Yes, I have doubt. Yes, I may regret. Yes, if my baby is born with a problem it will be difficult and I will probably beat myself up over it over and over. Yes yes yes now let me out of this room right now before I really lose my shit on your ass. I need to go to sleep. NOW. 

I went over to the lab and got the bloodwork. Walked home. Felt at peace. This was the right decision for me. For now. I just don’t believe there is a problem yet. I need more information. I will get more information and more time while waiting for these results. Until then, I’ll mostly be sleeping and working. Staying off Dr Google. Praying? Meditating? Whatever that word is for deep and intense thinking about what my true beliefs are about this life and my role in it.


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P.S. Just as an update, as of August 1, 2014, my cell free DNA blood test was normal. My 16 week early anatomy ultrasound was normal. My 22 week fetal ECHO was normal. My 22 week full anatomy scan was normal. My weight gain is normal. The fetal growth is normal. My blood pressure is normal. I am having no problems or complications. So it seems, at least for now, at least this time, that my intuition was correct. The baby seems fine so far. And thus, my prenatal care so far has been the most stressful, thorough, and expensive low-risk pregnancy that good insurance can buy... Just like I would expect of our health care system. 

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Ethics is knowing the difference between what you have a right to do and what is right to do. 

Potter Stewart

Live one day at a time emphasizing ethics rather than rules. 

Wayne Dyer

I do not believe in immortality of the individual, and I consider ethics to be an exclusively human concern with no superhuman authority behind it. 

Albert Einstein

This is my simple religion. There is no need for temples; no need for complicated philosophy. Our own brain, our own heart is our temple; the philosophy is kindness.” 

Dalai Lama