Prenatal testing is obviously a very personal topic, and I would never judge the decisions that anyone else makes. We?ve had a very stressful, but not altogether uncommon, experience, and since I feel like in general we as parents aren?t well-educated by our MDs about prenatal testing I thought I would share our experience?
There is quite a bit of debate about the utility of the screen in the general public as well as among physicians, mostly centered around the so-called ?false positive? rate, the stress it can cause parents, and unnecessary amnios. After weighing the pros and cons, we decided that getting the test was the right decision for us. I tend to be pro-information, and always feel like knowledge is power, so it wasn?t a difficult decision to make. Three days after getting the bloodwork done, I got a voicemail from my OB saying she needed to talk to me about my results. Immediately I knew something was wrong. I called her back immediately and she told me ?Your results were positive for Down syndrome?. My heart dropped and my mind went completely blank.
Now, as a physician I felt fairly well-informed about the test and what it meant and didn?t mean. I remembered the basics from medical school: it was a screening ? not diagnostic - test, it only gave an estimated risk, etc. But, for whatever reason when my OB broke the news to me she chose to use the phrase ?positive for Down syndrome?. In that moment, all of my medical knowledge went out the window. I was a mom, and had just been told there was something wrong with my unborn child. My OB had not counseled me at all about the test beforehand, and now in this conversation she did not elaborate beyond that terrible phrase. I finally mustered enough composure to ask some pertinent questions. I discovered that my age-based (baseline) risk was around 1:550, but based on my screen was 1:211. To me, those numbers meant nothing ? the words ?positive for Down syndrome? were burned in my brain.
I cried. A lot. I called my husband and cried some more. I went home, and we held each other tight. I looked at Jocelyn and wondered how her life would be different if she had a sibling with DS. I googled and googled and poured over all my medical texts and cried some more. My husband and I kept looking at each other and wondering out loud ? didn?t 1/211 still mean that our risk was <0.5%. Not great, but could be a lot worse, right? Were we missing something? At our OB appointment the next morning my OB explained that because we knew my dates were correct, there was less of a chance that the test was inaccurate in my case. We wanted confirmation that we understood the numbers right, but she clearly felt our numbers weren?t good, which only made us more terrified. She referred us to IU Maternal Fetal Medicine.
Waiting was torture. But, after crying and freaking out for two days I became more at peace with whatever fate had in store for us. I read lots of stories about other women/families in the same situation ? some who ended up having a child with DS, some who didn?t. I started to accept that maybe we were chosen to have a special needs child. Chris and I discussed amniocentesis. The risk for miscarriage was 1/300-1/400, and the MFM we would be seeing, Dr. Abernathy, came highly recommended by two of my friends who are OBs themselves. For us, the amnio was a no-brainer. Knowing our baby?s diagnosis ahead of time would allow us to deliver near a tertiary care peds hospital if necessary, arrange for any perinatal medical consultations and treatment, research the best therapeutic interventions, and learn about and prepare for raising a child with DS.
We met with the genetic counselor Monday morning and immediately felt better. She confirmed that we weren?t, in fact, ?missing something?. She went over our family and medical histories, went through the details of my quad screen results and all the statistics, and explained our options for further testing. No one ever mentioned pregnancy termination. Next we had a level 2 US. The tech was great and explained everything. Thankfully, no ?soft markers? were found, but we had been told that up to 50% of babies with DS don?t have any. We knew we still wanted the amnio for a definitive diagnosis. It wasn?t a picnic, but it was over quickly and the baby did great. We requested the FISH analysis which gives preliminary results in 24-48 hours, which is always followed-up by the traditional chromosomal analysis that takes 10-14 days to come back.
This afternoon, I received a phone call from the genetic counselor; according to the preliminary results, our baby boy does NOT have DS. We will feel even better when the final results are in, but the FISH is 99%+ accurate. Of course, we are well aware that just because our baby doesn?t have DS, doesn?t mean he couldn?t have other health issues. I have been spending time reading the Special Needs board and it has hit home how many parents raise children with medical or behavioral problems that would not have been picked up before birth. Although I?ve read about many women who regret getting the quad screen after going through a similar situation, I do not feel that way. I would do it again in a heartbeat. This may have been the most difficult week of our lives, but for us it was worth the opportunity to prepare to provide the best future possible for our child.
I can?t believe this is so long. I just really feel strongly that patients should be educated about their choices, whatever they are. I completely understand why parents would choose not to undergo prenatal testing. For those who do choose to, I hope they understand the limitations - I thought I did, and still freaked out. We feel so fortunate that we have had a reassuring outcome thus far!