When the doctor offered us the Integrated Prenatal Screening during one of my first prenatal appointments, my husband and I agreed to it without much thought. I think we even replied with the cliché response of wanting to know “just incase” to help us prepare if we needed to. Being young and healthy we assumed we would not need to worry ourselves about it, based on my age
the chances of having a child with Down syndrome were 1 in 769. I did the blood work and ultrasound, and like many other pregnant ladies, promptly forgot all about it.
Fast forward a few months, and the doctor informed us that my blood work has been flagged as high risk. She sounded a bit concerned but still the chances of the baby having Down Syndrome was only 1 in 55, “that’s less than a 2% chance,” she said while handing us the information for a rush appointment with a genetics counsellor at a hospital two hours from home. As scary as it sounded we were still optimistic everything would come back clear.
At about 20 weeks pregnant we travelled to London to meet with a genetic counsellor who explained how the screening process works, and what triggered the positive screen result. She spoke a bit about what Down Syndrome is, offering a medical defnition of the condition and correlated facts. She offered some information on potential next steps including a more detailed anatomy scan, another screening test (the Non-Invasive Prenatal Test), or amniocentesis if we wanted a defnitive diagnosis. She also explained what further options existed beyond testing – including the option to terminate our pregnancy. We clearly stated termination was not an option we were interested in hearing about and she immediately noted that in our file. After our meeting we opted to complete the NIPT to have a more accurate screen result.