Part 5: Genetic Testing

Everyone seemed to agree that our baby’s anomalies pointed most likely to Trisomy 18, though his particular ‘list’ of problems didn’t align exactly with ‘the list’ for either T-18 OR T-13.  To get an official diagnosis, we would need to pursue genetic testing, and there were two options.  The most effective way to get an accurate, truly diagnostic result was via amniocentsis.  The other option was a cell-free DNA test, which would be far less invasive but was not guaranteed to give a result and would not be officially diagnostic.  Our OB assured us that having an official diagnosis would not change her management of my care OR the baby’s care after birth, because we were able to monitor his condition via ultrasound and make decisions accordingly.

We procrastinated for several weeks on making this decision.  Jeff and I had opposite feelings about our ‘need to know.’  There was no conflict at all; he just simply didn’t feel the ‘need to know’ as strongly as I did.  What were the risks of amniocentesis?  How much would each option cost, and was ‘knowing’ just to ‘know’ worth that cost?

We finally decided to call Wellspan’s genetic counselors and get answers to our many questions.  They were very helpful and also relayed Dr. A’s concerns that not having a diagnosis could lead to potential conflict in the delivery room if our baby was born alive.  For legal and ethical reasons, various specialists might have differing opinions about what efforts should be made to sustain baby’s life until his diagnosis, and therefore long-term prognosis, was known.  With a strong desire to avoid this dilemma as our main objective, we quickly came to an agreement to start with the cfDNA test since it was least invasive and also less costly.  A few phone calls enabled us get the price reduced from $995 to $200, at which point the decision was even easier.

We posted on Facebook as follows:

Baby update, since many of you have been asking… We are at 5 months today. Our very, very little guy doesn’t even make it onto the growth charts, and he can’t flip or turn, but I can feel him moving his arms/legs each day now. This is a sweet reminder of his presence, and I am trying to enjoy/celebrate any normal moment I can. We are waiting on the results of genetic testing, which we pray will yield a diagnosis. We started with a cell-free DNA test in which a sample of my blood is being analyzed to find fragments of all the baby’s chromosomes. They will look for extra or missing copies. The genetics people at Wellspan are excited, because I’m the first expectant mom in our area to be able to use the newly available full-genome test. Previously, the test analyzed only for chromosomes 13, 18, 21, X, and Y.  Otherwise, I am feeling as normal as a homeschooling mom of five kids can feel, and we are simply waiting as we would in any other pregnancy for our baby’s arrival. My list of the many kindnesses shown to us by God through His people continues to grow longer each day. Thanks to all of you who are praying for us!

And then:

cfDNA testing was completed Saturday, and we received the news today that a clear result was found… an answer to prayer, for which we are thankful. Our baby has an extra copy of chromosome 13, not 18, as was suspected. The list of anomalies for each trisomy is similar, and our baby’s specific anomalies do not match either list fully. I plan to write more about our baby’s specific issues in the future, in a blog format, since some of you might not want this type of news in your FB newsfeed. But for now, we’ll share these facts: Trisomy 13 is more rare than 18 and the most rare of the viable chromosomal syndromes. It affects more boys than girls, and it is even more unlikely that our baby will be born alive. If born alive, typical survival length is 3 days. My main prayer is that this pregnancy and our baby’s short life will not have been in vain… that it not be wasted… and that God will use it for His glory and for eternal fruit for His Kingdom.

When the phone rang and I recognized the number of our genetic counselor, my heart did skip a beat.  Would the results be clear?  Which syndrome was afflicting our baby?  Hearing the verdict of “Trisomy 13” was not difficult at this point.  I was SO thankful and relieved to know that we would not have to consider amniocentesis or wait until after baby’s birth to know exactly what was wrong with him.  We already knew based on the ultrasound findings that his condition was dire, and we had mentally adjusted to that fact.  Based on the responses to our post, however, we realized that for almost everyone else, this diagnosis brought these realities home to many of our family and friends in a more ‘official’ kind of way.

Though the cfDNA test is not diagnostic in and of itself, we can accept the results as such when coupled with the finding of multiple anomalies on ultrasound.  It is still utterly amazing to me that someone, somewhere far away in a lab, was able to take one tiny vial of my blood, figure out which cells were my baby’s, and then view each individual chromosome to determine which one had an extra copy!  Truly astounding!

Having already read much about T-18, I began to read instead about T-13.

 

 

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