Monday, February 1, 2016

Genetic Counseling is Not for Wimps

This morning I had my appointment for the NT Scan and Genetic Counseling and Cell-Free DNA blood test.  On paper (or by my LMC date) I am 11 weeks 4 days today.  Let me tell you how it all went down...

I get to the appointment a few minutes early, fill out paperwork, and wait for half an hour even though I am supposedly the first appointment of the day.  Many pregnant women file into the waiting room to sit with me, and all I can smell is stale cigarette smoke.  I know my pregnancy nose is sensitive, but um, eeew, and gross, and you're pregnant so maybe you shouldn't be smoking and/or around people who smoke so close to you that you smell like that.  Finally I get called in and the ultrasound tech squeezes a bunch of warm jelly on my belly (I love it when it's warm and not freezing and starts the scan.  I see my baby!  I see a fluttery heartbeat, and the baby is moving it's little legs and arms all around - so active already!  I may be seven babies in, but seeing a baby inside of you never ever loses it's wonder. 

"You're baby looks so teeny!" she says as she pushes and slides the wand all over my too-big-too-soon belly (gotta lay off the chips!).  

"So what does that mean?" I ask.

"Well, in order to perform the scan, your baby needs to be measuring 36 mm and right now, it's only measuring 34 mm.  These measurements are telling me that you are only 10 weeks, 2 days pregnant."


Me, externally, "Oh ok, so I need to reschedule?"

Tech: "Yes, in about a week, we should be able to see better.  But you can still go talk to the Genetic Counselor today and she'll go over all your options with you."

After mopping up the (excessive!) amounts of goo from my belly, she walks me over to another waiting room until the GC comes to greet me.  

If you've never had Genetic Counseling, it's pretty sobering.  Although the woman was really nice, she was very straight-forward and stated all the facts in a scientific way, without feeling.  I realize she does this all the live long day, but it's hard to hear things like the following without getting emotional...

"Because you will be 37 at the time of delivery, your baby has a 1/165 chance of having Downs Syndrome and a 1/80 chance for Trisomy 18 (I believe, I can't quite remember the disorder associated with that statistic)."

She continued - "The cell free DNA test will give you (rattles off high percentages) accuracy of predicting your baby will have Downs Syndrome, Trisomy 13, Trisomy 18, Trisomy 21, or any abnormal sex chromosomes.  Do you understand this test and what the results will mean?"  

Mmm-hmmm, I nod my head.  She continues "If you get a positive result for any of these abnormalities, you will then have the option to get the amniocentesis to confirm the results. " 

Me: "I won't be getting an amnio."

GC: "Ok, that's fine, but if you want to STOP THE PREGNANCY, you will be required to get one, as this blood test is only a screening, and not an accurate diagnosis.  When this test first came out, many women were STOPPING THEIR PREGNANCIES because they thought the results were an actual diagnosis."

Me, fighting back tears, and trying to decide how to get her to stop referring to the killing of my baby as "stopping the pregnancy" but ultimately being too emotional to say much: "I will never decide to do that", I manage to squeak out.

She then went on to ask me questions about my ethnicity, Phil's ethnicity, any babies born in our families with disorders, and then asks me if I have any other children.

"Yes, this is my seventh" I reply as I rub my belly.  

"Really?  You don't look like you have that many children!  You look so calm!"

I guess I should try to look more frazzled, I think, but say "Well, they teach me patience!"

She draws a timeline with 6 lines pointing down, and says "So start with the oldest and tell me about them."

"Tell you what?  Their names?  Their ages?  Their birth dates?"

"No", she smiles, "tell me boy or girl."

Oh, well that was vague.  "Boy, Boy, Boy, Girl (she lets out a big sigh of relief on that one), Boy, and Boy."

That ended our conversation and she walked me out to the receptionist to reschedule the NT scan and blood test until I'm actually 11 weeks pregnant.  But, she reassured me, "You won't have to meet with me again, you'll just come in for the ultrasound and lab work."  Phew, I thought, my pregnancy hormones couldn't handle this appointment again.

But the upside to:

1) Hearing about those scary statistics.

2) Feeling as if a baby's life worth is determined by their physical abilities.

3)  Being told I have to redo weeks ten and eleven of this pregnancy.

Is that I got to see this wee babe:

A person's a person, no matter how small, and this baby human being (not human doing) will certainly be loved and cherished by us all.


  1. Sweet little human being, indeed. Congrats!

  2. Definitely not a fun meeting but the ultrsound is adorable!

  3. Love the ultrasound picture!! So cute!!

    My genetic counseling was nothing like that! She gave the stats and that was it. She mentioned amnio, but never even said anything about it except the risks. Plus, she said that most people women do not even care about getting the amnio test done because the blood test is so accurate.

    Sorry yours was so rough!

  4. Beautiful baby; beautiful thoughts in your closing sentence.
    It must have been so painful to hear those cold, cold words about your little gift from God. So much to pray for!

  5. Not worried about your kiddo because they'll be loved no matter what. The genetic counselor has to have that style of delivering news because they probably have to give scary diagnoses ALL DAY LONG. My MSAFP test in my second trimester of pregnancy came back elevated for Down Syndrome and people acted as if my kid had died in the womb. (My kid is fine.)

  6. Ugh that's brutal! Sorry you had to go through that! It's amazing how strong and subtle (although not to us...) the culture of death truly is. I mean, using euphemisms like "stopping the pregnancy"- terrible. Congratulations on your pregnancy, and prayers for you and baby! (I've been reading you for awhile, by the way, and I love your blog so much! I love your honest, no-nonsense posts. You are the best, thank you for all you write Colleen!)

  7. Ouch, that's a terrible appointment to go through. Wow. Thankfully, I didn't have to go through the genetic counseling even though I was 36 when I delivered Benedict. I just was referred to as "multi-gravita" every time I turned around. haha.

  8. Yay for cute babies on ultrasounds. I'm 38, but so far, have decided not to do any genetic testing. My midwife/doctor didn't push it at all.....really only mentioned it in a "here is some information on genetic testing, let us know if you have any questions or want to do it." In fact, they didn't even call me "advanced maternal age" even though I definitely AM, they didn't make a big deal out of it. So, I think we're going to opt out and just have the big u/s at 20 weeks. From what I understand, most of the time if there is an issue, they will catch something on the u/s, and you can always do further testing then. My cousin had a surprise Down Syndome baby, but he didn't have any other issues (no heart problems, etc.) so that not knowing beforehand didn't cause any problems. I feel like having genetic testing or not is a tough decision, especially when you are are "older" but knowing myself and my tendency to worry/anxiety, we decided to wait until the 20 week u/s. I think I would be a nervous wreck waiting for the results, otherwise. Although I am a bit jealous of finding out the sex super early. I really, really want to know. LOL

  9. I think the type of counseling you get must depend on your doctor/practice. Around my 9th kid (at 43) my doctor mentioned increase in some risks of genetic abnormalities, but that was about it. (They have a wonderful, low key practice) Then, at 45, after a pretty normal pregnancy with no noted issues, I had a daughter with "surprise" DS. The only thing I regret about that is she had to be transferred to a different hospital for NICU care for a few weeks. If I had known ahead of time, we could have made arrangements and not been thrown into such disarray.

    My last pregnancy (at age 46.5) we did the blood tests so we could plan appropriately - the new doctors I had were more pushy and anxious about things. And a visit to the maternal/fetal specialist - they managed to increase my anxiety even though nothing was wrong. I felt like they were treating me like a bomb that could go off at any time.
    Make sure your doctors treat you respectfully - I think that's better than any test for a good pregnancy.

    1. one other thing about various doctor/medical people. Some of them worry so much about the diagnosis that they forget they're talking about a baby. (like your genetic counselor mentioning "stopping a pregnancy" euphemism). My last doctors were so concerned about abnormalities and risks that I got very frustrated with them. I made sure I brought my daughter with DS to several appointments to remind them that she was not a diagnosis but a wonderful little girl. You'd think a practice associated with a Catholic hosital would have a better attitude.

  10. Beautiful picture of that little person. Already so loved. I will say a prayer for you today. Emotions can run amok so deep breaths. Just really turn to prayer during this time. Jesus, I trust in YOU!!

  11. I'm 10 weeks, 1 day today, so our due dates must only be off by one day now! Anyway, I'm 38, will be 39, when I deliver this babe and my doctors haven't mentioned genetic counseling or the harmony/panorama test (actually, I was AMA my last pregnancy too and I only heard of these early genetic tests on a baby center birth club). I'm the type to worry as well and also of the no amnio mindset, so I'm glad that I only have the anatomy ultrasound.

  12. having a medical background - these words sound all too familiar.
    looks like she made a family pedigree (lines with some pokes pointing down -- did she draw squares for boys and circles for girls?)

    I still get the sad sinking feeling when people tell me they've had an abortion during the history taking. I have heard women use: abortion, terminated the pregnancy, etc...
    so so so sad


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