The good and the bad of prenatal testing

So, it has taken me a few months to be able to write this, this story about my baby and how we thought all was possibly lost.  I think I'm finally in a place to talk about it publicly.

Because I'm over 35, I am immediately labeled as "advanced maternal age" by those who choose to use such names.  This means that various tests are more strongly recommended than they were when I was just a lass of 33 who was having her first child.  A second child at 36 somehow means I'm WAAAY over the hill, and my eggs must in some way be disfigured and hobbling around Ovary Town.  Yes, I tend to exaggerate, but you get my drift on how these labels make women like myself feel.  I opted to have the AFP (alpha fetal protein) prenatal test done, and I didn't give it much thought when my blood was drawn at 12 weeks and then 16 weeks.  The only thing that bothered me was the nurse who jabbed and bruised me while looking for a vein.

We were on our way to Harrisburg, driving a rental truck to pick up furniture from a friend, when the midwife called.  "Now, Sarah, don't get worked up about this, but..." is never a great way to start a conversation.  The test came back as a 1:88 chance that our baby has Trisomy 18.  My heart stopped for a moment.  I wasn't very familiar with Trisomy 18, but as someone with a biology degree and a background in genetics, I know enough to know that having three copies of any chromosome is a bad deal.  Down's Syndrome is a trisomy of chromosome 21, for example.  I couldn't remember my schooling enough to know what Trisomy 18 is, but the answers from my midwife confirmed my suspicions.  The vast majority of these babies die before birth because of many physical issues.  The ones that survive barely make it beyond the first weeks or months of life before dying.  Yes, indeed.  A very bad deal.

I sat in the rental truck in a Wawa parking lot, listening to her voice.  It's a 1:88 chance that something is wrong with the baby.  She recommends we schedule an immediate level II ultrasound, with a possible follow up of amniocentesis.  I hear the words, and I go numb.  I am 16 weeks pregnant.  I'm sitting in the truck in a parking lot with Amos happily chatting in the backseat while Phil retrieves drinks and snacks from the store.  Across from me is a scene full of teen testosterone, two sets of boys showing off their monster trucks and stomping around with bravado.  I'd rather joke with Phil about the peacock plumage of this male display than have to tell him what I had just learned.  Please don't make me repeat what the midwife said...


Just shy of two hours on the road through Amish country gives you time to think.  We passed seven or eight Amish buggies, and we all shouted in glee as we spotted them.  It was a good distraction, and perhaps a good sign.  I said to Phil, "If our baby is just fine, then show us some Amish people."  And lo, there they were.  Not one, but seven or eight buggies in their finest black regalia.  It wasn't a definite test, but it made us feel a little better.

We arrived at our friend's house, and I asked her if she had encountered the same kind of prenatal testing issues, since she is over 40 with two very young children.  Yes, she said.  Both pregnancies had given "false positives" on this test, and both children were fine.  In fact, one of them had been given a 1:5 chance of having a trisomy.  I could see her healthy children in front of me, and the relief washed over me.  A 1:88 chance of trisomy 18 can also mean that there is an 87:88 chance that my kid is perfectly fine.  Those are big chances full of hope.

I spent the next week thinking about my baby A LOT.  I had already felt little movements in my belly, and it's very hard to not become attached to a wee life inside of me who is already moving and becoming someone.  What kind of decisions would we need to make if we were that 1:88 couple?  Would we lose the baby naturally?  How can I tell our families about this?  How will I live past it?  I made the mistake of looking at pictures of Trisomy 18, or Edwards Syndrome, babies.  It tore me up.  I read every possible thing I could about the markers or physical defects that could be found via ultrasound.  I studied ultrasound pictures of normal and Trisomy 18 babies, readying and steeling myself... just in case. I withdrew into myself and the arms of Phil, and I hugged Amos with all my might.  It was a rough week.


The next week, in late February at 17 weeks, we had our ultrasound and a consultation with a genetic counselor.  The ultrasound tech was quiet at times, and I would pose my newly-learned questions upon her:  Do you see clubbed feet?  Are the hands clenched?  Is the cranium deformed?  How does the heart look?  Do you see the three arteries/veins in the umbilical cord?  Is the growth delayed?  I tried not to be annoying, and she always answered in a cheerful voice, "It looks fine!"  And she was right.  I had learned enough to see on the ultrasound screen that she was right.  Not a single marker, or physical defect, was found.  Even better, she told us that we are having a boy.  I think I love that woman.


Phil and I had already discussed that if a marker or more was found, we would have the amnio to definitively tell us about the baby's chances.  But, not a single marker was found.  He was fine, growing and developing his little parts just like he should.  The meeting with the genetic counselor went on forever, but we learned that Trisomy 18 babies normally show some markers during an ultrasound, much more so than Down's Syndrome babies.  This gave us further assurance that we didn't need to have an amnio.  She also told us that the reason that Trisomy 18 is such a fatal condition is because the 18th chromosome is longer than the 21st, giving many more chances for genetic defects in its strand of DNA.  We discussed our family histories and possibilities for other genetic issues in our baby, but Phil and I were all smiles in her office.  We felt fine.  The baby is fine.  We are okay.

To be safe, we followed recommendations that we have another ultrasound at 20 weeks.  That ultrasound also showed that our baby boy is doing very well, and he kicks and squirms so much that the tech must follow him around my belly to get a look.  Most of our pictures turned out blurry because he moves so much.  No markers have ever been found, and we are letting out big sighs of relief each time we go.  The perinatologist recommended that we have ultrasounds every four weeks throughout the pregnancy, just to follow growth and make sure that all is well, even though he and the ultrasound techs have yet to find any reason to believe that our baby is not okay.  It is our decision if we want to continue the ultrasounds, which brings me to yesterday.  We had our 24 week ultrasound, and once again, little Marmot looks just fine.  His growth is in the 65th percentile at 1 lb 11 oz for week 24, and the tech tells me that he is very likely to be bigger than Amos was at 6 lbs 9 oz at birth.


All good news.  All smiles.  Although we have an appointment at 28 weeks for another ultrasound, Phil and I aren't feeling so much that it is necessary to continue the monitoring (although we absolutely love having the chance to see little Marmot so often).  We'll see what we decide when the time comes.  While the ultrasound tech tells me that very rarely a Trisomy 18 baby will be born without having shown markers on earlier ultrasounds, she says that in her 25 years of seeing these babies, she has never found that to be the case.  It made me very sad to think that she has indeed had the misfortune of telling other parents that their baby is showing markers for Trisomy 18.  But, her expertise reassures me that our little guy is doing just fine.


So, on with the happy planning for little Marmot and his welcome into our family.  I don't think sad thoughts anymore when I see a little infant outfit.  I'm just happy and squishy inside, and I see that in Phil's eyes as well.  We're really excited to meet him and to see how our family changes and grows with him.  I know there are the tiniest, slimmest chances that something could be wrong, but I have the confidence to keep up the happy thoughts.  After all, as Phil says, we've never won anything.  Why would we "win" something now that has a 1:88 chance of happening?

My heart hurts for other parents who find themselves in the minority group, the ones who hear an ultrasound tech, perinatologist or genetic counselor tell them that their child is not what they had hoped.  There is just too much to think about, feel, and be torn over with that kind of diagnosis.  I have friends who have lost their babies to such genetic conditions, and I know people who love their children who continue to live and strive in their own ways, despite their syndromes and trisomies and labels.  For some period of time, I was there, waiting to see what our future holds, and I have nothing but love for those who have been there before and will be there in the future.


As for prenatal testing, I see the value in it, and now I've seen the ugly downside of being grouped into "the maybes."  Maybe everything is fine, maybe not.  Let's take this test to scare the hell out of you.  The test looks at proteins in the mother's blood rather than in the womb, and it's the least invasive, and dare I say least informative, way to gauge whether there is a CHANCE that something has occurred.  It would be nice if we had advanced to Star Trek technology and could just wave a wand of some sort to say, "Yup.  Healthy baby."  But, we don't have that yet, and even if a better noninvasive test is available, it hasn't been mass approved by health insurance companies to have a real effect.  The test for assurance involves a needle in the belly or into the vagina to sample amniotic fluid or chorionic villi, and those tests are nowhere near being less invasive.  I understand now why some mothers told me that they opted out of prenatal testing, despite their ages.  Is it worth the worry and tremendous lack of faith a mother and her partner go through when they fall into "the maybes"?


Before having the test, I might have said yes.  Now, my answer is firmly in "the maybes."