Around my 12th week I had the NT scan and first trimester blood test done for chromosomal abnormalities. My numbers came back a week or so later showing that my chances of the baby having some serious conditions were about 1:5000 (so VERY unlikely), but baby's chances of having Down Syndrome was 1:200ish, which means that they estimate that 1 in every 200 babies COULD have DS. This blood test is kind of notorious for having false positives though so they sent me in for another test two weeks ago to rule out some other issues and check for DS again. The day before yesterday I got a phone call with my results and again, baby is VERY unlikely to have conditions such as Trisomy 13 and 18 and Spina Bifida, but the Down Syndrome numbers are still just under the limit to cause concern. They would like my ratio to be above 1:270, but it is just under at 1:200ish again. According to my blood test I am more in the range of that of a 36 year old woman's risk for DS.
So, even if this is all a false alarm and a slight cause of concern for my genetic counselor we do have a 99.5% chance of NOT having Down Syndrome. The good news is that when I went in for my Progesterone shot I had a long sit down discussion with the genetic counselor. My next blood test is relatively new and will replace the last two, less accurate tests within about a year or two because it is much more accurate. They will take my blood at my next visit on Thursday (along with a cheek swab from Dylan just in case they need it). Apparently, inside the womb, baby continuously sheds skin cells into the amniotic fluid, and the placenta sheds cells that have baby's DNA, which gets absorbed into my blood stream somehow during pregnancy. This blood test will look at my blood and separate my chromosomes from baby's and they will be able to look at all of her chromosomes and especially look at the 21st pair which is where Down Syndrome comes from. If all looks normal, I will get a call a week later saying that I have a less than 1:5000 chance, but if baby does have it, I will be told that there is a greater than 99% chance that she has Down Syndrome. There is no middle ground with this test so it is very accurate.
Dylan and I are not exactly worried about my past results because like I said there is only a 0.5% chance that there is even a problem. We will absolutely love this baby no matter what the result is, there is no question about that! There is a medical concern however if the results come back again positive because babies with DS have roughly a 50% chance for heart defects and may need extra medical attention before and after birth, so we would all like to be prepared if that were the case.
All I can really do in the mean time is continue to keep calm and know that I am in wonderful hands at my specialist's office. They are constantly there for me and have helped ease my worries while keeping us informed about every step we have taken to ensure baby will be born healthy. Hopefully the next test will completely ease our worries <3.
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