August 2018 Moms
mnickolas228
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What are the chances of Down syndrome when ultrasound says short nasal bone?
mnickolas228
member
More specifically..... we declined DNA or genetic testing but now for last 3 ultrasounds the nasal bone was not visible- they kept saying she was looking the wrong way or her hand was in the way... and then this past one... They finally saw it and said it was short and they are sending me to another place for a second opinion. I also decided to get the DNA test called Panorama. The waiting game is killing me. I am very concerned and want the best for my girl!!! Help! Advice, kind words, ANYTHING will help. Btw I'm 25 +4 wks.
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lalala2004 member
This is really a question for a genetic counselor, but in the research paper I found, having no nasal bone was a very strong indicator for DS, but having a short one increases likelihood as well. But the DNA test should tell you more about the chances that she has DS.
https://www.ncbi.nlm.nih.gov/m/pubmed/12494981/
*Siggy Warning* -
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jaztastic member
Can I ask why you declined the all the screenings, only to freak out now?
I second what lalala2004 said, but also not detecting a nasal bone is not the only marker for DS. - Loading the player...
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delujm0 member
It's my understanding that insurance typically covers the NT scan/quad screen, but not the full genetic bloodwork unless you're high risk/AMA. My OB office doesn't even ask if you want the NT scan, they just do it because it's so widely covered. It's not as accurate as the full genetic bloodwork like panorama, but it still gives you decent information.lalala2004 said:
I had to pay OOP for mine, most insurance doesn’t cover it unless you’re AMA.jaztastic said:Can I ask why you declined the all the screenings, only to freak out now?
I second what lalala2004 said, but also not detecting a nasal bone is not the only marker for DS. -
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dirtanddiamonds member
That’s just not true for all insurances. This is the first time (4th pregnancy) my insurance paid for the early screening and it was only because I’m AMA.delujm0 said:
It's my understanding that insurance typically covers the NT scan/quad screen, but not the full genetic bloodwork unless you're high risk/AMA. My OB office doesn't even ask if you want the NT scan, they just do it because it's so widely covered. It's not as accurate as the full genetic bloodwork like panorama, but it still gives you decent information.lalala2004 said:
I had to pay OOP for mine, most insurance doesn’t cover it unless you’re AMA.jaztastic said:Can I ask why you declined the all the screenings, only to freak out now?
I second what lalala2004 said, but also not detecting a nasal bone is not the only marker for DS. -
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mrslittlemac member
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OptionsHi everyone! I appreciate your feedback. We opted out of the genetic scan in the beginning primarily because I read that the blood test I was offered (harmony) were proven to only have 75% accuracy and then if it came back as "high risk" the next step would be invasive (amniocentesis). We knew we would keep baby either way and didn't want to risk hurting baby with the amnio. After the Dr placed their concern after 20 week ultrasound about her short nasal bone and told me about the panorama blood test having a 99% accuracy, I was convinced that I'd rather know to just prepare better for her arrival.
Anyway. So much for the Panorama test. At nearly 26 wks the test came back as "no result"... in most cases the test will only come back as "no result" when there is a lack of fetal DNA, which is typically the case early on in pregnancy- not at 26 wks. after seeing a genetic counselor she explained that the "no result " was very inconclusive and that she called the company Panorama and asked if we could redo it and they said there would be no point because our particular chromosomal makeup was not matching how they test... It all doesn't make sense to me! So they also said that sometimes when a "no result " comes up, that it does kind of lean on the side that there is some sort of chromosomal abnormality, however that usually is only women who are earlier in their pregnancy... So anyway I really don't have any answers. And I was offered to take a different blood test such as maternity 21 but they were afraid that they would also come back inconclusive... they felt amniocentesis was to dangerous at this point and I am personally just "over it" at this point and I'm just going to wait for her to come and we'll see! I just want my little girl to be happy and I'm going to try my damndest to make her that way!
I am now 28 wks +5. She still has a short nasal bone. We went for a fetal echo and she has the possibility of a VSD or ventricular septal defect. Although typically heart defects correlate with Down Syndrome this particular defect does not correlate with Down syndrome and is now a completely new issue. They do however say that sometimes the VSD's can correct themselves before they are born and it is something that can correct itself even after they're born. I go back in 4 weeks to see if a vsd is present. I'll keep updating! -
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mbrowling member
@mnickolas228 I'm sorry that you aren't getting any answers, I can't imagine how frustrating that mist be. Hoping that the vsd corrects itself! Sending positive vibes your way -
Options@mnickolas228 that’s so frustrating! I hope whatever defects that may be present have minimal to no health effects and I hope you have some clearer answers soon!*Siggy Warning*
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rklinge0 member
Lurking from April
If you look at my profile picture you can see that my oldest has t21. But wanted to help correct you on the vsd. VSD's are very common in t21 babies, the 2nd most common heart defect that they have; avsd is the most common. Yes it is true that they can grow out of them, but if not you will end up with open heart surgery around 6 months. Open heart surgery is more painful on you than your child and my dd was smiling 3 days after like it was no big deal; you realize how resilient kids are.
If you do end up having a child with t21, the community is one of the most supportive communities you can ever be in. Your life may be slightly different than what you imagined, but 3 years into this, I wouldn't change her or this journey. -
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sarcasticowl member
@mnickolas228 For what it's worth, I was born with a VSD and it corrected itself and I've never had issues. Hoping for the best for you - you certainly haven't had an easy go of anything so far. -
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nugs41 member
@mnickolas228 It sounds like you have a wonderful attitude towards a super frustrating situation, and that shows that your little girl will be in great hands regardless of the outcome. Keep up those positive vibes and we will keep sending them your way! -
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