Well, so far I've talked to two nurses who agreed that the reports say two different things, but apparently they don't have access to the actual ultrasound images. (So I'm not really sure why it's policy that I go through them first, which they agreed with and were really understanding about. I like these nurses.) They both emailed the doctor who did the anatomy scan to have him look into it further. Hopefully I hear back soon since it took a whole day just to get the message to the actual doctor.
Ended up hearing back right after I posted that. He actually called from his cell phone and gave me the number so I could call him back if I have any further questions, so that was nice. He said that it can be hard to see the nasal bone in the 12 week scan and sometimes the skin of the nose can make it look like there's one there when there's not, or it could have been really small and not developed further since then, but he's pretty confident it wasn't there at the 20 week scan. So, back where we were before I looked back at the NT scan and waiting on the cell-free DNA results.
@abhphilly I'm sorry it took all day for him to get back to you, but glad you got to speak to the doctor directly and he explained the discrepancy btwn the scans. I hope your cell-free DNA results don't take too long
Lurking from end of April. Soft markers can be so hit and miss about diagnosing t21. With my first they saw a different one ( mild ventricular megalogy= a little extra fluid between ventricles in the brain), with it 97% of babies have typical chromosomes, we happened to be the 3%. I will have to say that at first it was a really hard adjustment, but looking back I wonder why I worried so much. There is such a great support group of parents and depending on where you live great centers. She really does defy expectations of what the doctors told me she would be doing. We have met most of our milestones on the later end of normal but still within a normal range. If you do end up with a diagnosis, I would be happy to talk to you. This time, I am actually kind of nervous about having a child with typical chromosomes because our dd had been a fairly easy going infant that I know it won't be the same this time.
@rklinge0 Thank you! We really are looking at the positives of both outcomes and trying not to worry about any negatives at this point. I’m super thankful that other than the nasal bone everything seems to look great so far with him. I will definitely contact you if the cfDNA shows that T21 is likely. I’m in Philly so I believe we have a decent number of resources available, especially from the Children’s Hospital of Philadephia.
@abhphilly You are both going to be awesome parents. Your little guy is lucky to be so loved and cherished. CHOP is an amazing hospital, but I’m hoping you will never need to take advantage of it. I’m thinking of you and your little boy! Sending you all my positive thoughts!
Just got the call, and NIPT came back normal! So, 99.8% chance or something like that that it's not Down Syndrome. I had come to terms with it so much that there's almost another adjustment period to picture him without it, but I'm definitely relieved. There's a pretty good chance he'll actually be born with a nasal bone and they either couldn't see it or it's late developing. If he doesn't have one, he could have another rarer syndrome that's not tested for by NIPT, but for now, it's really encouraging news!
Thanks for all your support in this week of a roller coaster (thankfully they got the results back that quickly!). If anyone else shows markers at their scans or is still waiting on results feel free to keep using this thread!
Re: Down Syndrome Markers
Married: 8/22/15
BFP #1: 8/22/17 | DS: 4/20/18
BFP #2: 7/14/19 | EDD: 3/18/20
And I'm glad the explanation makes sense and doesn't seem like a blow off response.
I will have to say that at first it was a really hard adjustment, but looking back I wonder why I worried so much. There is such a great support group of parents and depending on where you live great centers. She really does defy expectations of what the doctors told me she would be doing. We have met most of our milestones on the later end of normal but still within a normal range.
If you do end up with a diagnosis, I would be happy to talk to you. This time, I am actually kind of nervous about having a child with typical chromosomes because our dd had been a fairly easy going infant that I know it won't be the same this time.
CHOP is an amazing hospital, but I’m hoping you will never need to take advantage of it. I’m thinking of you and your little boy! Sending you all my positive thoughts!
Thanks for all your support in this week of a roller coaster (thankfully they got the results back that quickly!). If anyone else shows markers at their scans or is still waiting on results feel free to keep using this thread!
Married June 2012
BFP June 2013- blighted ovum, D&C Aug 2013
BFP Oct 2013- twins! A&H born May 2014
BFP Aug 2017- EDD 5/8/17
I was worried when I saw lots of comments, but definitely good news!
Dating since: 11/17/2001
Married: 9/26/2009
TTC: June 2016
EDD: 5/14/2018