Genetic Testing is WAY different for this pregnancy than it was 10 years ago! (Yeah, yeah the "AMA" rears its head again.) When I was pregnant in 1999 with A, I had the option of a screening test for Downs by a blood draw. I opted not to do it because it had such a high false positive rate that I knew I couldn't handle the stress of that option. As it turned out, he was healthy and no worry anyway.
Now at the ripe old age of 36, it's a more detailed screening called the Nuchal Transluceny (NT Scan) which checks through ultrasound for a translucent pocket of fluid behind the baby's neck and then blood is drawn (from mom) to test for 2 proteins in the blood (HcG and PAPP-A). They combine all 3 results with your age for your results for a risk of chromosomal abnormality with the baby.
We met with the genetic counselor to explain the process with us and to ask any questions we had. She was wonderful and G was so thoughtful in his questions and discussion, it made me really happy, as I know how hard our miscarriage was on him too.
We had the NT scan
last Monday and measured beautifully at 1.3mm! We were soooo relieved! Hearing the words, "You're well within the normal range" was truly like music to my ears!
After our miscarriage at 11 weeks last summer, we had a lot of anxiety of reaching that point as well. So, hearing our baby's heartbeat and finding out this NT scan came back "well within the normal range" released a lot of stress for us. The genetic counselor had indicated that we'd hear back on our blood results if there was an issue by Friday.
Got a call Tuesday (the next day) that my blood work had come back testing positive for "increased risk".
1 in 16 for Downs.
At my age, my risk should "normally" be 1/166. So we were pretty freaked. Even though we knew and read how the positive result was mostly statistical and there are MANY "false positives", it is still scary to hear.
At my age, my risk should "normally" be 1/166. So we were pretty freaked. Even though we knew and read how the positive result was mostly statistical and there are MANY "false positives", it is still scary to hear.
We had the option of doing nothing, a CVS, or amnio.
The CVS is a test where they can insert a catheter into the placenta and pull out tissue to then test the chromosomes to make sure there are 2 of each and no extra or missing.
We scheduled my CVS for last Thursday and it went extremely well--just uncomfortable, not much pain. The doctor who performed the test was wonderful! I had some slight spotting, but nothing alarming and the doctor assured me that I would have it, as he nicked a capillary when the cathetar went into my cervix.
I rested all day and tried not to stress and worry.
Keyword: tried.
Keyword: tried.
We waited all day to hear back from the genetic counselor with the preliminary results--which were to come the next day. Thank God!
I was anxious, worried, stressed and a MESS!
Crying a lot and just praying.
G didn't sleep much.
G didn't sleep much.
Honestly, if I had to do it over again, I don't think I would have done the screening...
So, we got the call Friday afternoon that all was chromosomally normal! Yay! And since they test tissue containing chromosomes, they are able to tell xx or xy. :)
Yay Baby Girl!!!
We are now 12 weeks, 2 days pregnant, beyond our genetic testing, past the date we miscarried and we have seen our baby and heard her heartbeat so we are FINALLY really able to enjoy this pregnancy!!!
We both are excited about this little girl and are happy to know this early in the pregnancy that she is she. :)
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