I’ve been keeping secrets from you for some time now… I’ve often come here to work out my issues, but this time I needed to sit with it. Let it sink in. Let is grow before I could let it out. I’m pregnant again! It’s not that I didn’t want to share the good news right away, but this pregnancy has not been without its challenges and I needed some time to process the questions themselves before I could put them down in words.
It all started back in January when I found myself staring down at a pregnancy test with the word PREGNANT staring back at me. It was 8 days before my missed period. Two long weeks later, I heard my baby’s heartbeat at the doctor’s office. I was barely 6 weeks pregnant. The decision to have another baby was something I had thought long and hard about. Given my age, my options were narrow, but having children closer in age was something I had always wanted. Little did I know that things would happen so quickly…
As with my previous pregnancy, the first trimester was a smooth ride. There was hardly any morning sickness or fatigue to complain about. I even joked to my husband that some days I barely remember being pregnant. Everything was going exactly as I had experienced with my son. Around the 3 month mark, we decided to opt for genetic testing just as we had done previously. Chorionic villus sampling (CVS) is a prenatal test in which a sample of chorionic villi is removed from the placenta for analysis. It is usually done between weeks 10 and 13 of pregnancy — earlier than other prenatal diagnostic tests, such as amniocentesis. Chorionic villus sampling can reveal whether a baby has any chromosomal abnormalities. CVS is an invasive, elective procedure that’s not for everyone. But, for
a control freak like me, it was a no brainer.
The test is not for the faint of heart. If you’re squeamish about needles, stop reading here. A long hollow needle is inserted into the placenta, either vaginally or through the abdomen, and a small sample of the chorionic villi is drawn out. It sounds a lot more scary than it really is. The whole procedure lasted about 15 mins, but the genetics counseling portion of the visit took up to an hour. Having been through this before, my husband and I arrived at the doctor’s office fairly relaxed. We met with the genetics counselor (GC) to go over our history and settled into the procedure room for the test. The doctor came in and after a quick ultrasound, a long thin needle was inserted into my abdomen, as we watched live on the screen, a small sample was collected for analysis. That was it. I was given instructions to stay off my feet for the next 24 hours and a few other restrictions for 48 hours and sent home. Everything was looking good so far.
Most genetic testing offers 2 types of results… Within a day, we could get preliminary FISH results which would give us a snapshot of the genetic makeup. These results were 90-98% accurate, followed by a full karotype analysis within 10-14 days. So, the next day I called the GC to see if our FISH results were available… She said she would call us as soon as she heard back from the lab. An hour later, my doctor called back with some not so great news. It turns out that the FISH results were inconclusive. It showed something very rare. Half the cells were normal while the other half showed 4 copies. There’s a name for this condition… Mosaic Tetraploidy. He said not to worry as he thought it was a likely a lab error and to wait for the full analysis to come in, which could take up to 10 days. Also, our ultrasounds had been near perfect, showing nothing abnormal- a very encouraging sign!
Tetraploidy is a condition in which cells contain four complete sets of chromosomes. Instead of having 46 chromosomes organized into 23 pairs of 2, tetraploid cells have 92 chromosomes organized into 23 sets of 4. Typically, tetraploidy is found in all cells resulting in an early miscarriage. As of early 2016 there have only been a few cases reported in the medical literature of live born infants with tetraploidy. The longest reported surviving infant lived to be 26 months old and experienced severe physical and developmental problems. In some cases, tetraploidy is only present in some, but not all, of the cells in a fetus or live born baby. This situation is referred to as mosaicism.
As scary as it was to hear those words, strangely, at that moment I was very calm. I didn’t panic or get upset. Call it mother’s intuition or wishful thinking, but I knew that my baby was okay. Whatever life had in store for us, we would deal with it as best as we could. Still, waiting for another 10 days to know for sure proved to be extremely difficult. Thanks to the support of a couple of good girlfriends and my family, I made it through. It’s during times like this that we really get to see who is in our corner. All it takes is a phone call, or text to say, hey I’m thinking about you. I’m beyond grateful for those people who checked in on us often. About a week later, I got another call from the genetics counselor and this time, the news wasn’t any better. The full analysis showed the same abnormality… I was so convinced that everything was going to be okay that the news hit me like a brick.
Are you sure? I asked the genetics counselor and she said no, we’re not sure. That answer threw me for a loop. Our recommendation is amniocentesis in a couple of weeks, she added. You see, there was a possibility that the abnormality found in CVS was contained within the placenta and the baby was just fine. There’s a name for this… Confined Placental Mosaicism (CPM).
CPM is a condition characterized by the discrepancy between the chromosomal/genetic makeup of the baby and placenta. Genetic and chromosomal makeup of the placenta and fetus are almost always the same, because they both develop from the same egg. However, it is estimated that 1 in 50-100 women experience this condition due to some problems during cell division in the placenta. The prognosis is good with no fetal and maternal complications in a majority of the cases. Suddenly, I was hoping that I was one of these women.
Amniocentesis is yet another invasive procedure that allows your healthcare practitioner to gather information about your baby’s health from a sample of your amniotic fluid. This is the fluid that surrounds your baby in the uterus. It is usually done when a woman is between 16 and 20 weeks pregnant. This meant I had to wait for another 3 weeks before I could schedule the test and likely another week more to get the results. I was starting to dread the wait even more than before. Still, I had a ray of hope to cling to and my faith was strong.
3 weeks later, my husband and I went in and met with the GC yet again. This time, our visit was brief. Then, back to the examination room where the doctor reassured us that our baby was going to be just fine. The procedure was quick and we were sent home with stronger instructions to stay in bed for a couple of days and absolutely no lifting anything over 10 lbs for the next week. That meant, I couldn’t pick up my baby boy, which was probably the hardest thing I’ve had to do. The next day, we heard from the GC that our FISH results were normal, which is 98% accurate. 10 days later we got our full panel analysis which confirmed the FISH results, which meant that most likely everything is okay with our little GIRL. Finally, we could breathe a sigh of relief.
Throughout this ordeal, I scoured the internet looking for articles, testimonials from others who have been through this and couldn’t find much info. I thought long and hard about posting this, but if my story helps someone out there, then maybe my suffering was not in vain. Last Christmas, as I wrapped presents for my little nieces one little item caught my eye. It was a delicate pink hair clip. I don’t know what came over me, but I saved it in my nightstand. I have looked at that little clip every day since I found out I was pregnant. On those nights when I couldn’t sleep, not knowing what was happening to my little girl, I would hold that clip in my hand for reassurance. Some days, when my anxiety got the better of me I would clip it to my bra, holding it close to my heart. It’s such an insignificant item, but to me this little hair clip is the closest thing to my baby girl. Every time, I feel her move I’m reminded of how fragile life is and how incredibly lucky we are to have such a blessing. I cannot wait to bring her home wearing this clip.
If you have any questions about any of this, please feel free to ask… I’m not a medical professional, but I can share with you what I’ve learned based on our experiences. For anyone out there going through something similar, please know that there is always hope. In the words of Rumi, Don’t grieve. Anything you lose comes round in another form.