Doc says fetal nasal bones are small, recommending additional DS screening

SamanthaJoD · November 2013

Looking to see if anyone has thoughts on this… at my ultrasound yesterday at 22w6d, the doctor mentioned the nasal bones of the fetuses were “on the small side” and recommended that we do an additional screening for down syndrome. I don’t remember what the screening was called, it’s not an amniocentesis, something else that only requires additional bloodwork. The bad thing is that it’s a new screen that’s not covered by insurance and would cost $200, which is not super expensive, but I would rather not have any unnecessary procedures. The thing is… I’m only 25, and previous screenings came back totally normal with no indications we might have DS. I just don’t think these babies really are at risk for DS, but I wonder if I should spend the $200 and get some peace of mind? It’s kind of bugging me that the fetal doctor found this, but I kinda wonder if she’s being over-cautious and just wants as much testing as possible. I wish I could just forget she ever said anything and look forward to my healthy, normal babies but now I’ll be wondering!

If we decide to do nothing…will we know if they have DS right after they are born?

amy1007 · November 2013

Fraternal or identical? You had 12w nuchal translucency screening?

SamanthaJoD · November 2013

They are identical, and we did the nuchal translucency along with a blood test and the results were normal.

jocie2581 · November 2013

We did materniti21 after an increased risk of Down syndrome was calculated from our quad screen at 20 weeks. It's a blood test. It was worth the money for piece of mind.

Stephanie2167 · November 2013

I would totally pay out of pocket for the Maternit21 test. But that is a personal decision. Good luck.

kgs0505 · November 2013

At least they are ID, but is the test accurate with twins? Some of them aren't. However, I'd do the blood test over an amnio any day.

SamanthaJoD · November 2013

Bah, yeah, not non existent risk for 25 year old, but still super low, around 1:1350. With all other factors being normal, I'm just hesitant because we're trying to be extra careful with our spending. I don't know, maybe the $200 is worth the "yes, your babies are fine", although I'm quite sure they are fine without this test. Arg, maybe we'll just bite the bullet and do it even though I'm sure they just have petite nasal bones. Thanks all for weighing in.

heaven22tw · November 2013

would it alter your decision to continue with the pregnancy? If not I would wait it out. Most likely if it is DS there will be more indicators as you progress with the pregnancy. I know a lot of people who refused the test...best of luck.

Rynleigh · November 2013

The thing is that knowing in advance makes a big difference in how much time you have to locate a pediatrician who specializes in working with babies who are living with Downs, starting up with an early intervention program, getting in touch with foundations that help parents with medical, financial, and practical support, emotionally preparing for the possible surgeries and other medical interventions that may be necessary in those early months, etc.

If your insurance covers ultrasounds, maybe it would make you more confident to have another technician get measurements to confirm that the bones do seem abnormally short, first. Without knowing what measurements your tech obtained, it's tough to say "probably no big deal" or "high probability of DS". While it sounds like there aren't many other risk factors and most of your testing has come back normal, it may be a good idea to have the test (a small percent of DS babies have no other prenatal signs besides nasal bone abnormalities). Length *can* vary by ethnicity, and there is a very small percent of the population with shortened or absent nasal bones who do not have DS, but it may be worth the test just to be able to prepare. If they do have DS, that $200 test is going to be a drop in the bucket. So many people I've met who "wish they would have known" instead of waiting, despite knowing they never would have terminated.

https://www.ncbi.nlm.nih.gov/pubmed/18788563
https://www.jultrasoundmed.org/content/21/12/1387.full.pdf

SamanthaJoD · November 2013

Thanks all, the measurements were in the 5th and 7th percentiles at the ultrasound. I didn't realize they we're THAT small. My genetic counsoler thinks the possibility is very very small, but we decided to go for the test anyway. I hope to have the results by the end of the week! I did a ton of research and even though the nose bones are small they are still in the normal range, so I'm not super worried. Will be great to get the test results though, and it won't change my pregnancy if it does come up with down syndrom. Thanks all for your responses.

Stephanie2167 · November 2013

Good luck. Let us know how the test comes back.

CaliCarly77 · November 2013

The happiest day of this pregnancy was getting my MaterniT21 results back. I just felt relief knowing I could stop worrying and just be happy about healthy babies. I know this is awful and there are many loving parents with DS kids, but I think every parent hopes for healthy babies. Glad you went with the test.

SamanthaJoD · November 2013

Got my results today! First they tried to do a different test called "Panorama", but that didn't work out because that test does not work with multiple gestation pregnancies. So then we had to go back to do the Maternit21 test. The result was negative (no DS), so now we can put that behind us. I guess the one thing I got from this experience is a new sense of gratitude for my babies health, it was scary to think about the possibility of Downs. I also feel like I let them scare me into taking it though. I only got a quick glimpse, but a new ultrasound yesterday showed the nasal bones in the 51st percentile (a different tech this time, maybe that made the difference). Oh well, glad that's over. Getting really excited about the little darlings.

CaliCarly77 · November 2013

I am glad the results were good - and that you can now relax and enjoy the pregnancy rather than worry about the unknown.

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