False Negative

Diagnosis: Trisomy 18

By Dave & Anne

I am writing to share my story with any other person who has encountered a heartbreaking decision about their baby. The stories shared on this website prevented me from feeling alone and isolated in a very dark time and I am forever grateful.

My husband and I found out we were expecting our first child in May of 2012 and were overjoyed! Our first ultrasound was in June when I was 8 weeks along, and showed a healthy heartbeat.

We did a quad screen to test for genetic issues at about 17 weeks. The genetic results came back negative for Trisomy 13, negative for Trisomy 18 and a 3% chance for Downs Syndrome. In other words, I heard "negative, negative and a 97% chance that things are okay" so we never thought twice about the results.*

On the 11th of September we had our 20 week ultrasound. My husband and I had been making bets with each other about the gender and decided to have the lab tech write the gender in a card and seal it so we could open it over dinner that night. The ultrasound was amazing! We both welled up with tears as we saw so many new images of our baby: the profile, the feet, little legs kicking and squirming in my belly. The grand finale came to the tune of a wonderfully strong heartbeat and we turned away while the tech documented the gender and filled out our card for us.

In hindsight there were a handful of moments in that ultrasound that seemed strange to the both of us - the extra measurements of the limbs and the brain, the extended amount of time spent taking pictures of the baby's belly and umbilical cord. At one point I thought the spine looked crooked but as a new mother with no knowledge of what to look for, I quickly dismissed the thought.

The moment our lives changed forever came when the doctor entered our patient's room after the ultrasound. I remember thinking he seemed a bit stressed and when he sat down and said "I have some very difficult news about your baby." I felt the room collapse around me and went into shock. Thank goodness my husband was there to listen more clearly than I was able to. The doctor told us that he had some significant concerns with regard to the shape of the baby's head and brain, the shortness of the limbs and the fact that the baby had a sizable omphalocele indicating that the intestines as well as the liver were growing outside of the body. Again, more shock came over me and the doctor left the room so my husband and I could hold each other and cry and try to gather our thoughts.

When we left the hospital we sat in our car for a long while and cried because we were unable to drive right then. We headed home and hands down, had the worst night's sleep ever. At some point in the evening, we did decide to open the envelope and find out the gender - we were having a boy.

The next day we had a second ultrasound appointment at a perinatal center and saw more images of our baby boy. The mood was obviously much different the second time around as we now had knowledge of the grim picture we were looking at. Ultimately it was discovered that our baby had the following irregularities: a strawberry shaped head and banana shaped cerebellum, major facial abnormalities where they could not identify the lips, receded chin, abnormally short limbs, crooked spine with a large unidentified growth at the base, the omphalocele that included the liver, and a suspected heart defect such as VSD or ASD. We did an amnio and a few days later is was confirmed our baby had full Trisomy 18 which was the cause for all of the birth defects. The false negative on our genetic screen for Trisomy 18 was later suggested to have possibly been caused by a membrane encasing the omphalocele which prevented an accurate read . We are not quite sure.

Over the course of the next several days we met with various genetic counselors and doctors, searched the web for stories of hope, researched Trisomy 18 to the fullest extent and ultimately came to our crossroads. We had been searching for any signs that our son could not only live, but live without tremendous suffering and pain. We came up short. Then I researched what "life" would look like for my child if he, by some miracle, survived the birth. It meant IVs and tubes, conditions (particularly the omphalocele) that would prevent him from leaving the hospital for months, possible seizures/cardiac arrest/breathing issues, etc. What it came down to for us is that we couldn't risk this kind of suffering for our sweet boy. Nothing in the world would justify us having to watch our child suffer and then die in a world he is just not equipped for. And so we chose to say goodbye to our son on September 18, 2012.

I wrote this on October 11th, a full month from the day we first learned this devastating news about our baby. We miss our son terribly and think about him every minute. The silver lining in this whole story is that even in the darkest time of our life we were able to feel so much love from family, friends, coworkers, medical professionals, etc. There is a deep sadness and pain that exists where my son is concerned. I'm not sure I'll ever shake that grief but we have hope for the future, we have love all around us and we know that we are not alone. So many others have been faced with similar tragedy and I want to thank those who have come before us for being strong enough to share their stories, it helped us tremendously. To those who will come after us, you are not alone and remember that any decision made with regard to this "heartbreaking choice" is a decision based on love. Some babies are meant to be in heaven before they are meant to be in our arms.

*Screening tests are not 100% accurate and may come back with false negative or false positive results. The Quad screen test has an approximate accuracy rate of 80%-85% for T-21 and T-18 (some reports show a slightly higher accuracy of 90% for T-18.) Screening tests do not diagnose a problem, they will only give an indication that there may be a reason to do further testing, therefore false negative and false positive results may occur. Sources: The Facts on Prenatal Testing, PubMed - False Negative


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