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The Next Steps
We were feeling extremely relieved after our scan last week, showing little G5 wriggling away, waving his (or her) little arm, kicking like crazy and measuring right on time at 9 weeks and 5 days.
The relief lasted for about two seconds, following which we had to have a pretty serious conversation with our OB about what tests (if any) to have in order to be certain that little G5 doesn’t have an unbalanced translocation or Down’s Syndrome (I won’t go into the details of why this is a risk, but if you’re interested check out this post for more information).
We did quite a lot of research and were fortunate enough to be able to speak to friends and people in my support group who had experienced similar circumstances to us.
After taking into consideration all the information available to us, we decided to opt for a Percept NIPT test for pregnancies at increased risk of unbalanced translocations (after speaking to one of the senior scientists I felt confident that they would be able to detect an unbalanced translocation of 11 MB size even though their standard cut off point is 15 MB).
It is just a simple blood test (from my point of view) and should give us results within 3-4 days and fairly good certainty around whether or not the baby has a microdeletion on any chromosome (not just the ones we’re worried about) and can also accurately detect Down’s Syndrome.
I can have that test done at 11 weeks (which is less than 1 week away now).
The next step after that is to have an early anatomy scan at 12 weeks, which should be give us a fairly good indication that G5 has all his or her limbs in the right place, also screens for down’s syndrome and can pick up (some) major abnormalities if they are present.
We are hopeful that with the results of the NIPT and the scan that we can feel fairly confident everything is OK if the results come back clear.
If there is any amount of uncertainty in the results, we can still opt to have a CVS.
So we have about 2 weeks to wait until we know with pretty much certainty that everything is OK.
I had been feeling pretty stressed up until our scan last week, but I am feeling much better now. I don’t think 2 weeks is really that long to wait in the scheme of things.
Let’s stay hopeful that our tests come back all clear and everything is OK.
Until then, feel free to share your thoughts in the comments below.
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