Yesterday we went for our 12 week scan and genetic testing. Our first son was born with a rare genetic disorder that was not hereditary and passed away at 4 months old due to it.

I’m high risk this pregnancy because of that and have been offered extra tastings to help our anxieties.

So they did our scan and saw baby wiggling around. Then the doctor came in and said everything looks great .... but.... our NT measures at 3.5, which is on the high side of normal she said. We had an appointment with a genetic counselor right after and they went over risk % and everything it could be. We have a 30% chance of there being some type of chromosome abnormality, but that leaves a 70% chance of everything being perfectly fine and normal. Which, you’d think would be reassuring.

I know they have to talk about risks and odds and what the possibilities are. But the ONLY marker they found was the extra fluid in the neck. Everything else looks perfectly normal - nasal bone, organs, blood flow.

We decided to do a CVS and FISH test which they were able to do yesterday afternoon. They had 2 passes of getting a sample, and they said the second sample was great. On the way home the genetic counselor called to say the sample isn’t as big as they thought so they can only do the CVS.

So now we have 2 weeks to wait (thanks holidays) in limbo.

Anyone else have any experience like this and how it turned out for you? Like I said the only marker that they saw was the 3.5 measurement.

My husband and I were tested after our son passed away and neither of us have anything to worry about passing along. It’s just such a hard place to be in after we’ve already had such an awful loss in our lives that this baby may have an issue as well.

Thank you in advance!