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Mosaic Trisomy 16

Unlike with our first child, who was born after 5 year's attempts, I became pregnant with our second child immediately. The pregnancy came as a shock. I was not yet mentally ready for a second one even though we had decided to start trying. Due to my age (39) I went to prenatal screening as a standard procedure. When I went to the nuchal fold scan (where they measure a fold of skin in the back of the neck) with my husband, we took it for granted that everything would be fine. The specialist taking the measurement had difficulties getting the neck measured and I said to my husband "It is not meant to be. Maybe we should just go home." And maybe it would have been the best thing to do as the next 22 weeks were the most stressful months of my life.

The specialist was obviously a bit annoyed and just blurted out "Based only on your blood values, you have a very high risk for trisomy 13, 18 and 21." What? I could not believe my ears. This can't be happening, I thought. First, so many years' battle to have our first child and now this! The prenatal care doctor took us in and explained the options: cvs or amnio. I wanted the amnio. The doctor explained that a cvs would be better in case we decided to terminate the pregnancy because the fetus can still be aborted instead of giving birth. I felt sick at the idea of having to give birth to a terminated fetus so I opted for cvs then. Here we go. The cvs was done and the doctor explained that the results would be known within a few weeks and only in a very few cases can they be unsure of the results.

It was a mental nightmare first to wait until the cvs could be done and then for the results. I asked them to call my husband for the results because at work I had not told anyone about my pregnancy and I did not want to fall apart in front of my colleagues in case of bad news. It was a Friday afternoon when my husband called me. He said "They called me and told me they found no signs of extra chromosome 13, 18 or 21 and most likely they will not find anything else in the more detailed test." Phew! Hurray! A stone fell from my heart. Stupid tests, I thought. All worries for nothing. We had a lovely weekend trip abroad and celebrated the new life.

After a week the phone rang again. "Take Joanna (our first child) - we have to go to see the doctor," my husband said. "They have found extra chromosome 16". I started to cry hysterically. Then I went to the internet and studied everything I could find in the next few hours. We went to see the prenatal screening doctor. She looked compassionate. "I'm sorry to tell you the news. This is the first time any of my patients have had this. Based on your results and the fact that the baby is behind the expected growth rate, it is very likely that your child has something. With mosaic trisomy 16 it can be anything: missing anus, malformation, liver/heart problems, skin pigment abnormalities, anything. Maybe the baby is deaf. There is only a sparkle of hope that she would be normal." Then she insisted that we talk to the doctor in Rotterdam Erasmus Hospital in The Netherlands, who had done the analysis. We were only the second case in her career with the extra chromosome 16 and she had the same articles in front of her which I had found on the internet. We talked to the doctor and she was more positive and explained that many of the abnormalities can be fixed and this does not mean the end of the world. Next we had to wait and do the amnio and wait again for the results.

The amnio was done and thank God, nothing was found! The doctor said that it could be that the nature has just kicked out the extra chromosome which was only in the placenta. There was no reason to terminate the pregnancy but still there was no guarantee that everything would be fine. And there was a high risk for premature birth or having a stillborn. Kind of relief but still, the future was unknown.

My pregnancy continued and our baby started to catch up the growth rates. Maybe the extra 16th chromosome was indeed in the placenta and that's why the growth was behind in the beginning. She passed the structural test in week 20. Vanessa was born in October 2012, 6 weeks premature, probably due to my stomach flu which I got from my older child. And she was just perfect. There was nothing missing or wrong with her.

This year Vanessa will be 2 years old and she is a happy, beautiful and easygoing child. She has always been a bit late with everything - her first teeth came at the age of 14 months, she learnt to walk at the age of 1 year and 8 months, but her sister was not too speedy with these things either. Today, nobody would even think that we had such a horrible, painful pregnancy with her. Sometimes, a sparkle of hope seems to be enough.