Ultrasound Down Syndrome Testing - Any experience?
July 13, 2009 8:08 AM   Subscribe

My Wife is pregnant. We just completed the ultrasound test for Down Syndrome. We had a normal result for Nuchal Translucency (2.5mm for 13 weeks pregnancy). However the ultrasound did not detect the presence of a nasal bone. We are going for the CVS. Should I freak out? Does anyone have similar experience and how did it turn out?
posted by anonymous to Science & Nature (19 answers total) 1 user marked this as a favorite
It depends on what you mean by "freak out" I suppose. Would you terminate if the fetus tests positive for Down Syndrome? Would you just gather all the information you could so you could be prepared for whatever comes ahead?

There's really no point in any sort of freaking out until you have the CVS results. There's nothing you can do until then anyway, so what good does freaking out do? If you want to know what it would be like to raise a child with Down Syndrome, check out the National Down Syndrome Society and this website dedicated to a Triathalon that raises money for Down Syndrome research and support. It's written by a family friend who was also taught 3rd grade to both of my children.

One of my cousins has Down Syndrome and while it was and still is challenging for her parents, she's a wonderful person who has a lot of love to give and is a productive member of society. I can't imagine our family without her.
posted by cooker girl at 8:19 AM on July 13, 2009

"The absence of a nose bone still isn't a definite indicator that a baby has Down’s syndrome, but by adding this finding to the combined nuchal translucency scan and blood test (First Trimester Combined Test), research shows that it is possible to pick up 97 per cent of Down's babies.

Although this test is considered to be very accurate, it can be quite difficult to see if a baby has a nose bone or not. If the baby is facing downwards, or is in a vertical position, it won’t show up on the scan. It can take a long time to get the right view, and not many people are trained to do this scan. "


I wouldn't freak out yet, but being cautiously optimistic doesn't sound like a bad plan. The nasal bone measurements are still pretty new, and noses in the 13th week of pregnancy are tiny --- look at it this way, it's sometimes not possible to tell if you're having a boy or a girl at a 13 week ultrasound and those are bigger parts!

At my 18-20 week ultrasound, the tech and then the doctor couldn't get enough measurements because the fetus that would become Baby Boy Zizzle was uncooperative that I had to go back two weeks later for another one to get all those brain measurements they couldn't get the first time around.

And if it does turn out the baby has Down Syndrome, try to relax! People with Down Syndrome are some of the most loving, affectionate people in the world and many of them lead really full, happy, and otherwise healthy lives --- sometimes moreso than people without Down Syndrome. I'm slowly learning (and I mean really, very slowly and not without tears and pain as I learn it) that happiness ranks up there as one of the best gifts we can give children and that may involve adjusting, readjusting, and completely overhauling our own expectations as how we want their lives (and ours) to go.
posted by zizzle at 8:36 AM on July 13, 2009 [3 favorites]

Having a child is all about having things to freak out about. If your wife is over 40, you have more cause for concern, under 30, less cause for concern. You can only wait and see, so try to be calm.
posted by theora55 at 8:40 AM on July 13, 2009

If it turns our that your baby is diagnosed as having Downs then you need to make a decision about whether to terminate the pregnancy. It is life or death, there is no right answer, there is no "undo", your choice will stay with you for the rest of your life. As a couple it is best if you are to make the decision rapidly and unanimously.

[I saw this article by Ben Goldacre a few months ago. I was interested in this "More than nine out of 10 women [in the UK] who have an antenatal diagnosis of Down's syndrome decide to have a termination of the pregnancy. This proportion has not changed since 1989".]
posted by rongorongo at 9:06 AM on July 13, 2009

No you should not freak out. Sometimes I think that a lot of the new early diagnostic stuff creates more chaos and uncertainty than it is worth but I do understand the desire to find out if anything is wrong early enough in the pregnancy to make informed choices. Although we didn't have the early ultrasound and didn't have any reason for concern besides my age, I got a CVS so I just wanted to weigh in on that aspect. Be sure you go to a center that performs lots of them and that your doctor has a lot of experience doing them. It's a fairly new procedure and from everything I've read, the risks are much lower with providers that are very experienced. It's a pretty nerve-wracking experience but it's over quickly and should give you much piece of mind. Good luck and try to stay calm for your wife's sake.
posted by otherwordlyglow at 9:10 AM on July 13, 2009

Two things:

1. Ultrasounds and sonograms sometimes read things a bit wrong. Try a second one, or one from a beefier unit at a big hospital or imaging facility. Second opinions are a Good Thing.

2. There is always a blood test done (from the mother, not the baby) to confirm the nuchal fold test. They go hand in hand. Try not to flip out until you get the full results back.

Good luck!
posted by Citrus at 9:24 AM on July 13, 2009


As I understand by scanning through that article...it is more likely that your baby won't show a nasal bone at week 11 than at week 14.

Babies are wierd...they develop wierd things at wierd times. In my experience of people freaking out, babies start developing a certain organ, bone, muscle, etc...right after a test is done to freak out the parents.

Congratulations on the pregnancy. Also take note of the doctors who aren't freaking out about this stuff. They know what they're doing.
posted by hal_c_on at 9:53 AM on July 13, 2009

Modern pre-natal care is all about making you worry that the fetus has Downs-- my now 8 month old daughter had a normal translucency but my wife's serum screening suggested that there was an uncomfortably large chance that the fetus had Down Syndrome. So I had troubling sleeping until the amnio. And it was all for nothing-- our child is perfectly healthy.

"Don't worry until you get the CVS" is much easier said than done-- most everyone who knew my predicament reminded me not to worry about something that I couldn't affect and I did anyway. But ultrasounds are really not an exact science. Ultrasound techs contradict each other like guests on a Sunday morning news program.

Let's put it this way: if I were in your exact situation right now, having been through it once and worrying for nothing, I would not be too troubled by what you know so far.
posted by Mayor Curley at 10:20 AM on July 13, 2009 [1 favorite]

And as a side note, the people saying "hey, it's just fine if your baby has Downs" are being thoroughly inappropriate and insensitive to Anonymous.
posted by Mayor Curley at 10:22 AM on July 13, 2009 [11 favorites]

@zizzle: many of them lead really full, happy, and otherwise healthy lives
Let me adjust that for you:
with proper care and education, most of them lead really full, happy, productive and otherwise healthy lives.
I know that there are several Mefites who tend to show up in particular threads, and I have become the default Mefite for Down syndrome. I have two kids, the first with Down syndrome, the first without. With the first, other than seeing a "kyphosis" in the first ultrasound, we had no idea until she was born. Her birth for us was traumatic because society has taught us to believe that it is traumatic to have Down syndrome. With our second, we had CVS screening done because of Mrs. Plinth's age and because of the history with the first. It was tough waiting it out until that point. Really tough, but we made it and you will too. Time is like that.

And though I can tell you that we most likely would have terminated the first pregnancy had we known, I am so very happy and proud to be the father of my daughter - maybe more so than my son (Stuart - when you read this, I want you to know that you were two when I wrote this and you were being every bit as stubborn as a typical two year old who is scary smart. I am proud of you and love you very much, just not your behavior right now). Maybe there should be more things in life that make me believe in a higher power or a greater purpose in life, but being the best father I can to my daughter has been a calling in the same way that I think that people are called into the clergy.

I will not say, "hey, it's just fine if your baby has Downs[sic]", because it's not - at least not according to our collective mores that allowed turning 'retarded' into a pejorative and tacitly approves the open mocking of people with developmental delays. I will say that no matter what you choose, if you do so with your eyes wide open and are consulting complete, accurate information you are making the right decision. Start the book reading. Start the learning. Memail me if you have specific questions. Prepare yourself to make the best decision for yourselves that you can. If this is your first pregnancy, your life will be full of hard decisions around your child(ren). This is only the first.

If it helps, I've been writing a series of articles on my personal blog about being a parent to a child with Down syndrome. This is my experience. It shares a lot with other parents, but it is unique by definition. You may find this particular entry salient.
posted by plinth at 11:01 AM on July 13, 2009 [9 favorites]

Mayor Curley nails it (both times).

My wife is older and we had the ultrasound test for DS, which came back negative, but, because of my wife's age, there was a greater than 2% chance *in spite of the negative ultrasound result* that the baby would be born with that condition.

So, my wife decided on the amnio procedure, which has its own risks (it was a weird experience - an entire team of nurses and residents and other folks prepped us for the licensed doctor to show up. He had a nice haircut and he took about 30 seconds to do the procedure and then just booked it out of there like a prize stud or something), just to be absolutely sure.

And, of course, the results came back negative (the same day that Obama was elected), and our healthy, second son was born five or six months later.

But it was stressful. The lack of the nasal bone in your case doesn't mean anything, and the normal NT score should be reassuring. However, if you want to be absolutely sure, the amnio test is the way to go.

Your wife is probably freaking out more than you, so relax, calm down, and remind yourself that you're more likely to get into a car accident on the way to take one of these tests than your baby is to be born with DS. And yet you somehow manage to easily jump into your car every morning, right?

Good luck!
posted by KokuRyu at 11:03 AM on July 13, 2009 [1 favorite]

No you should not freak out, because if you do, you'll have to freak out about the next thing, and the next thing, and the next thing.

I was told at an eight week ultrasound that our baby likely had chromosomal problems due to the presence of an umbilical cyst, then iffy results on the second tri screen. We had decided we would terminate for Downs (most people do.) It was 22 weeks before I got the amnio results and could finally relax. I went through hell, and everything turned out fine.

Most of the time, things turn out fine.

Jacking parents up into a weeping wide-eyed middle of the night tizzy is what modern American prenatal care is all about, and it keeps us coming back for more. Check out What to Expect When You're Expecting. Lots of things to be terrified about.

OR, stay busy, have fun as much as you can, and the days will pass.
posted by A Terrible Llama at 11:06 AM on July 13, 2009 [1 favorite]

I feel for you both. With our first daughter, we had a strange nuchal result that seemed to signify dire genetic abnormalities and went in for a CVS almost immediately. That CVS test came back inconclusive -- they weren't sure if they had gotten the right tissue, or just some of mine! More tests were needed, and those took another couple of weeks. Then those test results were delayed. It was a harrowing wait. (Everything came back fine in the end.)

The results are simply going to be what they are. All you can do is talk to your wife about possible results and figure out what you'd do about them -- and realize that your certainties one way or the other may change immediately when you find out the results, no matter how they skew. At the time, we thought we'd terminate, and probably would have taken that route (Our predictions were much worse than Downs, if that makes a difference). Now, after having 2 kids with no problems and a third on the way, I don't know if we would. Your ideas of "baby" and "normal" and all the rest may change by the day, and that's normal.

The fear was still there, but having my husband say "whatever the results, we'll get through this" meant the world to me.
posted by mdiskin at 12:08 PM on July 13, 2009 [1 favorite]

Should I freak out?

No, not yet, if possible. I had a similar experience (trisomy 13, 18 at the 20 week sonogram). After two weeks of stress, we discovered that the sonogram tech and first doctor had misread the results.

So try to stay calm until you know what's going on. You don't have to make any decisions now.
posted by The corpse in the library at 1:35 PM on July 13, 2009

Listen to Mayor Curley. I've also been where you and he were. He's absolutely right.

This stage of my wife's pregnancy was mostly about waiting for corrected test results. My daughter's CVS test showed a false positive for a genetic disorder. My son's CVS sample refused to grown, and my wife had to undergo an amnio on both sacs. Neither amnio turned out to be positive. (She was having twins.) Meanwhile, we had to selectively reduce a third which was developing abnormally.

Ultrasound results vary widely depending on the quality of the machine, the skill of the technician reading them and the baby's position. And even with an expert, estimation and detection can be a hit or miss situation. My wife saw a perinatologist -- a physician who specialized in high-risk pregnancies from the beginning of her pregnancy. He had an excellent ultrasound machine. In addition to his scans, the OB who would deliver our kids also sent her to our local hospital. Their machines didn't have the same resolution, (their ultrasound techs weren't particularly good, either,) and they made a number of mistakes, including requiring a second nuchal transparency test on my son due to a false positive.

Both sets of doctors gave us estimations of how much they thought our kids weighed prior to their being born. The perinatologist was mostly accurate. The hospital was off by nearly two pounds and five cm apiece.

Unfortunately, the best advice I can give you is to wait until you're given more information, and try not to worry too much until you know more. I know that waiting patiently may seem impossibly difficult right now, but it really is the best course of action.

Good luck.
posted by zarq at 1:40 PM on July 13, 2009

has Downs[sic]

Since I'm one of the people perpetuating this mistake, I just wanted to mention in thread that it is, in fact, "Down Syndrome" not "Down's syndrome"--I know this but sometimes forget and did above.

I don't want my fossilized misinformation sitting in this thread forever.
posted by A Terrible Llama at 4:06 PM on July 13, 2009

I think most people who use the term "Downs" know that it's a colloquialism. My aunt and uncle refer to challenges that my cousin faces "because she has Downs." Granted, my cousin is nearly 35 years old, so they might be "old school."

It doesn't pay to be so pedantic when you're talking about something that has about 100 vernacular descriptions that are much, much uglier.
posted by Mayor Curley at 6:11 PM on July 13, 2009

And I'm fairly certain that the proper term in the UK is "Down's Syndrome."
posted by Mayor Curley at 6:12 PM on July 13, 2009

Ultra-sounds are so not definitive. We were told that one of our children had an unusually short umbilical cord. So short that they had all sorts of specialists both at the birth and on call. Of my three children that child had the longest cord of all three. Before worrying about it, wait for other confirming tests.
posted by JohnnyGunn at 6:17 PM on July 13, 2009

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