I am 33 years old and was told two weeks ago at my 18 week US that our baby had an EIF (spot on the heart), which is a POTENTIAL soft marker for DS and also Pyelectasis (dilated kidneys), which is also a POTENTIAL second soft marker for DS. They offered genetic counseling (which means you will meet with a genetic counselor to go over family history, concerns, and options), have a full in-depth US and meet with the doc to discuss the US results and if you choose to have an amnio you may get it at this time.
Prior to this US, I had the triple-quad blood test and my chances for a DS baby were 1 in 1,300, which is great considering for my age the chances are 1 in 500 (or so); however this test has false-positives and false-negatives. So we opted for the amnio. The main reason was how stressed out I was due to these soft markers, I could not have gone another 22 weeks not knowing if my baby had DS or not and I knew this stress could not be good for the baby.
I had the amnio last Wed and rec’d the FISH results (24 - 72 hours) Thursday afternoon and the baby does not have DS. FISH results are preliminary, the complete amnio results will come in approx 2 weeks, but these only differ less than 1% of the time.
Needless to say, I was stressed out and out of my mind for two weeks and the baby is just fine. Although the docs say not to search medical conditions online (unless it is a reputable site), I nonstop researched these DS soft markers and found only good news on these findings and each site said DO NOT WORRY, your baby is probably fine. While this is easier said than done, for us an amnio was the only option that could put my mind at ease and help me to enjoy this pregnancy.
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