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Mosaic Trisomy 16

My pregnancy was stressful from the beginning.  I had my first ultrasound at about 7 weeks.  The first thing the tech noticed was that the embryo looked smaller than the conception date indicated.  And she noticed a blood clot next to the placenta. They told me to come back a week later to make sure the baby was growing at a normal rate and to check on the blood clot.  On the next visit the amniotic fluid level looked a little low.  I began going in for weekly ultrasounds until my doctor finally decided to send me to a high-risk pregnancy doctor.  Then one morning I awoke not feeling pregnant anymore.  My breasts weren't sore or swollen anymore.  I called my doctor who had me come in to check my progesterone levels.  Sure enough the levels had gone down and she prescribed progesterone which I had to take for the remainder of my first trimester.

At my first appointment the high risk doctor he said that everything looked good and that the baby was right on target. He suggested that since there were different techs reading the results each time maybe they each read the measurements a little differently.  We then received the results of the Alpha Fetal Protein (AFP) screening tests and we were sent to the "genetic counselor" to have them explained to us.  The counselor delivered some horrifying results.  Though our risk for Down's Syndrome was relatively low (something like 1:400) we had a 1:2 risk for Trisomy 18.  I thought this was the scariest thing I had ever heard and didn't think it could get any worse.  Boy was I wrong.  At 13 weeks they sent me for a CVS.  Waiting for those results were the longest 2 days of my life.  When the results came back that everything was ok we were elated.  We found out we were having a girl and my GYN (who no longer delivered babies) referred me to an OB to take over the rest of my pregnancy.

 That first appointment started out on such a happy note.  The obstetrician gave me a sonogram and said everything looked normal.  We were ecstatic.  I was literally paying the bill with one foot out the door when my new doctor asked to see me in her office.  It was at this point that things fell apart.  She told me that my old GYN had just called her with some more results.  While I checked out negative for Down's and T18 the genetics department had just found something else.  Something called Trisomy 16.  She couldn't give me specifics as she had never seen this before, but that the genetics department was perplexed as Trisomy 16 is not compatible with life.  I would have to have further tests.  I was scheduled for an amniocentesis at week 16.  I would have to wait three more weeks for that procedure and then probably 2-3 more to find out the results.  We were also told that we had to begin thinking seriously about whether or not to continue with the pregnancy, and that a decision would have to be made by week 24.  This was the low point.  I think I cried at least three times a day for the next 5 weeks.  My husband and family immediately started doing research on T16 since nobody could tell us what was going on.  By the time we went in person to speak with the head of the genetics department, my husband knew as much or more about the disorder than they did.  The meeting was not very helpful as we really needed to wait for the results of the amnio to find out more information.  We also went back to the high-risk doctor who told us that if no T16 was found in the amniotic fluid then we had a good chance that  the baby would be healthy  and the T16 would most likely be confined to the placenta since the fetus was still alive and looking healthy.  It was sometime between the CVS and amnio that we found Karen and the foundation.  She was so nurturing and reassuring.  She made us feel so much more positive about the situation.

Finally I received the results from the amnio and no T16 cells were found.  My high risk doctor assured us that there was a high probability that the T16 was confined to the placenta. He explained while this could cause an early delivery, the baby should be fine.  He recommended that we go have a fetal echocardiogram to check out the baby's heart for further assurance before we make our decision whether or not to proceed with the pregnancy.  We did and the baby's heart looked perfect.  We were so happy and felt more positive about our decision to continue with the pregnancy.  In our minds, how could we terminate a life that looked perfect so far?

So, from week 24 on I was seeing my regular OB once a month for regular check-ups and my high-risk doctor once a month for growth scans.  Everything was looking normal until week 30.  The baby's growth had decreased dramatically (Intrauterine Growth Restriction or IUGR) and I would have to be very closely monitored from here on out.  This meant Non-Stress Tests (NSTs) twice a week at my OB's and Doppler Tests twice a week at my high risk doctor, as well as growth scans every 2 weeks. 

My NSTs looked perfect.  My blood pressure was great.  The Dopplers began to look a little worrisome, but nothing that warranted major concern yet.  At week 32 I began showing protein in my urine which is a symptom of pre-eclapsia.  However, my blood pressure still looked fine.  At week 33 I went in for my Doppler and it concerned my doctor.  He consulted with my ob and they decided to admit me to watch me closely, both for stress on the baby and my development of what they had now determined was pre-eclampsia.  They also gave me steroids to help the baby's lung development in preparation for an early delivery.  I was told I would be in the hospital until I delivered.  I was in the hospital 2 days when the doctors decided that the baby and I were looking healthy and that they wanted to deliver me before something took a turn for the worse.  I had a c-section on November 14 and Alexandra was delivered weighing in at 3.1 lbs.  She came out crying, breathing on her own, and healthy.  She was just small. 

Alexandra was in the NICU for 2 weeks.  She needed to gain a certain about of weight before the doctors felt comfortable to send her home.  She gained weight so rapidly and the doctors were very pleased with her development.  She has been home now for 10 weeks and continues to be healthy and gaining weight quickly.  We couldn't be happier and thank the powers that be for giving us such a beautiful and healthy baby. 

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