"genetic abnormality" at 10 week sono

My sister had a sono last night and there was a "genetic abnormality" detected and the doctor is sending her to see another doctor and talking to her about her "options." Unfortunately, her husband couldn't go with her last night and she was obviously too upset to really hear or process many of the details.

I believe this was the NT scan and that they are referring to the folds on the neck and the possibility of Down's, but I can't seem to remember all the details of that test when I was pregnant.

Does anyone have any experience with this?

Re: "genetic abnormality" at 10 week sono

This test shouldn't be done before 11week of after 13wk6days. I wonder if they tested too early.

I don't have much advice but just that everything works out well. Definitely have her get a 2nd opinion .

Re: "genetic abnormality" at 10 week sono

I agree with the pp... If this was the NT scan I would request the re-do the scan at a later date, it shouldn't be done at 10 weeks. Doing it too early can definitely alter the results.

That scan is also never 100% accurate, mine came back with a 1/13 chance for DS and I opted to do a CVS. We got the results back from that and DS was negative.

Tell your sister, as difficult as it may be, to stay calm for her own sake and for the baby.

If this was a different scan then she may want to make another appointment to go back with her husband and talk to the doctors so they have two sets of ears. It's definitely overwhelming and a lot to take in.

Re: "genetic abnormality" at 10 week sono

No experience with bad results, but here's what I do know...

I think 10 weeks is still too young for the NT scan. I remember my Dr being very specific as to the exact dates i could go because too early or too late can give a higher rate of false positives.

The NT scan in my experiences run in conjunction with bloodwork. It's a combination of the results not just one or the other. Then k had more blood drawn at 16/17 weeks and they average those results in as well to get a final number.

If the results were to have come up with a low ratio for an abnormality I would have been offered a meeting with a genetic counselor and an amnio.

that this is nothing and she continues to have a happy and healthy pregnancy!!!

Re: "genetic abnormality" at 10 week sono

That seems too early to test for the NT scan. Usually 12 weeks is the best time frame. I am sorry she is going through this and hope everything with the testing comes back ok.

Re: "genetic abnormality" at 10 week sono

Posted by Tina1117

This test shouldn't be done before 11week of after 13wk6days. I wonder if they tested too early.

I don't have much advice but just that everything works out well. Definitely have her get a 2nd opinion .

Re: "genetic abnormality" at 10 week sono

Ugh, I hate that test. They also told me that my ds had a thickened nuchal fold. It has to be 6mm or less ds was 6.3mm. I had to go to Madonna 2 days later to speak to the genetic counselor.When I got there I DEMANDED another sono, because I was going to lose my mind, I could not stop crying. They told me I would have to pay $250-$300 out of pocket, I told them I did not care that I would pay. (They were able to get an approval from my insurance because this was a new issue.) Another tech did the sono and the fold measured 4.2mm. I was so happy I could not stop crying. I had to go for a fetal echo. When I told the Dr. why I had been referred, he kind of just shook his head and lowered his eyes, as if to say he has seen many women get false results with this test. There was nothing wrong with ds heart. I had ds 10 weeks ago and he is a perfect baby, no downs. Please tell your sister this test is not very accurate at detecting downs and I am sure her baby is very healthy.

Re: "genetic abnormality" at 10 week sono

Thanks all. That is what I was thinking too, but again, the details are fuzzy right now. I am pushing for someone who can be calmer to go with them to the follow-up appointment.

It doesn't help that my memory is fuzzy. Is the NT scan the first sono that is done or the second? I can't remember if I had anything before 12 weeks. Is it possible this was an earlier test that revealed something different?

Re: "genetic abnormality" at 10 week sono

as everyone said, 10 weeks is too early for the NT scan so i would ask them to redo it in 2 weeks.

i had my first sonogram at 8 weeks and that was just to check that there was a heartbeat. aside from that, i dont think they can really see anything so early.

Re: "genetic abnormality" at 10 week sono

10 weeks is DEF too early. Like jams, I had my first sono at 8 weeks by my dr (I had other ones but that was at the hospital because of dehydration and pains) and then the second one is scheduled just after 12 weeks.

As others have said, tell your sister to ask for another scan in 2 weeks. And DEF have someone go with her next time. Have her record things on her phone if she needs to so that she can process them later too.

Re: "genetic abnormality" at 10 week sono

Yes, 10 weeks is too early for the NT sono. I had my NT sono at 12 weeks. At 9 weeks, I did have a sono, but that was just a measurement sono to date the pregnancy.

Anyway, my NT sono showed a thickened nuchal fold and I was also told the baby may have a genetic abonormality, most likely it was an indicator for Trisomy/Downs.

I went to a perinatal place and they did the sono using more high tech equipment. Unfortunately, they got the same results. I went on the have the CVS testing (instead of waiting until 17 weeks to have the amnio) and every thing came back completely normal.

I had many more detailed sonos, a fetal echo, genetic counseling, etc. My baby was born in February and he is completely healthy and a happy baby!

Re: "genetic abnormality" at 10 week sono

Crashing but just want to send to her. I also got an incorrect result from a sono- enlarged brain ventricles- and DS was totally fine when they rescanned. Hoping all works out

Re: "genetic abnormality" at 10 week sono

Re: "genetic abnormality" at 10 week sono

they said 10 weeks, 1 day. So early. So happy for those of you who have had happy endings.

Re: "genetic abnormality" at 10 week sono

I agree with everyone and those tests can be SO off it is the NT scan, had another friend who was told her baby had down's from the NT, her husband wanted to terminate, she refused, their baby was FINE!!

I also agree that is seems way too early . and def get other opinions. At my NT scan they measured by baby 11 days ahead and insist their measurements are right when I was on day 1 of my period when they say I conceived . .not to say this is at all the same, just saying measurements can be OFF . between equipment and user error!!!

Re: "genetic abnormality" at 10 week sono

Re: "genetic abnormality" at 10 week sono

I think it was to early and it's relative. A friend of ours had her NT scan and it was + for Downs, but her blood work was fine. They considered termination. Their little girl was born a healthy 8lb 5oz at 39 wks. The staff all failed to notice that my friend and his wife have very large necks and heads lol. It was just a product of that. She was always fine. He was a football player and her a wrestler.