Depending on your age and other risk factors, you may have been offered an amniocentesis at some point during a pregnancy. Unfortunately for me, this happened in my most recent two pregnancies. After my first amnio, I never wanted to experience that again, and yet I did just last week . . . but more on that later.
The typical amnio story involves a mom-to-be, typically over the age of 35, who is offered an amnio to rule out the possibility of Down Syndrome. The risk of Down Syndrome increases with increasing maternal age, especially after the age of 30, when most of us are having our babies. There are also many women who have a positive screening test known as the Integrated Prenatal Screen (IPS), which combines blood work and the second trimester anatomic ultrasound. It is used to rule out the possibility of genetic abnormalities, such as trisomy (three copies) of chromosomes 13, 18, and 21 (Down Syndrome). This was my story with both Ryan and son-to-be (named ‘Critter’ by my oldest).
When I was pregnant with Ryan in 2012, I had a major scare at 17 weeks. I was working in the emergency department overnight and had sudden onset chest pain. Due to the increased risk of pulmonary embolism in pregnancy, and progressive vomiting that night, I found myself at Mount Sinai Hospital at 5 a.m. getting a CAT Scan of my lungs. My husband and I called our OB to see what her opinion was, and she too told us to have the CAT scan and pop by her office when we were done, presumably to fill her in on what happened.
So after a terrible night in the ER, both as a physician and a patient, my husband and I dragged ourselves to our OB’s office. I love my OB and value her no bull**** approach. But I was not prepared for this. To add to the pulmonary embolism concerns of the previous night, my husband and I had to hear about my IPS results—our baby had a 1/40 risk of having Down Syndrome. Being only 29 years old at the time, my typical risk of Down’s was more like 1/200,000, so a risk of 1/40 seemed incredibly high.
I sat there shocked, exhausted emotionally, and physically drained from working in the emergency room and all the vomiting I had done the previous night. On top of this, I had a very stressful radiation-containing investigation that proved unnecessary, and now this.
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?
What would you do?
For more on how this stressful situation turned out, stay tuned...
Is Having A Child With Down Syndrome An Ethical Dilemma?
How to support families who are living with a child who has special needs.
For more no-nonsense kids health info and advice, check out DrDina.ca.
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