I went home and cried while staring at our baby’s ultrasound pictures for hours, trying to figure out what to do. Should I get an amnio or not? Could I wait it out and hope for the best? Could I live with the consequences of not knowing and having a baby with a potential genetic abnormality? Would we continue with the pregnancy if we knew the baby did have a genetic abnormality? How would this affect our then one-year-old son, Dylan?
I was terrified of the idea—the thought of a long needle invading my baby’s amniotic sac, the risk of infection, poking the baby, and, worst of all, the 1/1000 risk of miscarriage. For me, I didn’t want to live the rest of the pregnancy being fearful, worrying about the worst-case scenario. If our child did have a genetic abnormality, would he be well or unwell at birth? Was there another genetic abnormality that was masquerading as a positive Down’s screen that could be deadly? I needed to mentally prepare myself for all the possibilities.
Knowledge is power, most of the time. In my case, as a pediatrician and emergency room doctor, I see many patients with Down’s and other genetic abnormalities each year, both healthy and sick. Some live amazing, fulfilling, healthy lives. Some have devastating heart and blood problems. There is no predicting.
At the end of the day, I am not good with surprises and am a control freak. We needed to know what we were dealing with. There was no way we couldn’t find out. So, four days later, after going to genetic counselling, I had my first amniocentesis.
For me, it was horribly uncomfortable. I found the procedure painful, with lots of cramping afterwards. After delivering my first son with no epidural, I thought it would be a breeze. Not so in my case. I was not expecting that degree of discomfort. I was a complete worrywart for the next 36 hours while we waited for the results. And thankfully, we found out Ryan was healthy with no genetic abnormalities. He is now a healthy and ridiculously happy two-year-old.
I told myself I would never have an amnio again—it was too uncomfortable, physically and emotionally. But last week we were back in the same situation. Now a 1/200 risk of Down’s for this baby. And we did it all over again, much to my chagrin, with a different set of cramping and nausea following the procedure this time. My OB is right, no two pregnancies are the same.
Thankfully, we found out that this baby too does not have Down’s or other genetic abnormality. We still have to wait until the final genetics testing is back to fully relax, but this is a step. It’s a very stressful experience and I wish no one had to go through it. I am thankful we have the technology and knowledge to enable such testing, and happy that I was given the opportunity to find out the results. But I certainly don’t wish this experience on anyone. For my husband and I, we needed to know to plan ahead. For others, such as my parents and several of my friends, there was never a need to find out. At the end of the day, the choice is yours—there is no right or wrong answer, only your personal wishes.
Have you or your partner had an amnio? Or chosen to avoid one? I would love to hear your experience!
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