# Can You Tell Down's Syndrome at 12 Weeks?



## PurpleHaze

We went for our 12 week scan today, and baby is fine apart from an increased nuchal fluid (measuring 3.7), which means they might have Down's Syndrome. Obviously this was a bit of a shock, but it's not certain yet, and I was just wondering if it's possible to tell if the baby has DS on this picture? 

We've got another nuchal screening scan on Friday, and a possible amniocentesis test after that. I'm trying to think positively and not worry too much. Down's Syndrome isn't the end of the world is it?

Xx
 



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## karolynca

More than the picture I think what they expect is the measure to be 3.0 or below. With that said...

Ultrasound findings 

An ultrasound, also know as a sonogram, is a test done during pregnancy which uses sound waves to generate a picture or image of the fetus. Occasionally, but not always, infants with Down syndrome show subtle signs on an ultrasound that can make your doctor suspect that the fetus has Down syndrome. 

Some of these subtle signs include a decrease in femur length (a bone in the leg), an increase in the skin behind the neck (called nuchal translucency), or choroid plexus cysts (cysts in a section of the brain that produces spinal fluid). These are what are often referred to as soft signs because none of these ultrasound findings will cause the fetus any problems by themselves. However they may make the doctor suspicious that the fetus has Down syndrome. Other more serious signs that can also be seen on an ultrasound can include heart defects and intestinal blockages. 

Down syndrome cannot be diagnosed based on ultrasound findings alone. These findings simply suggest that there is a higher risk that the fetus may have Down syndrome. Based on this increased risk, your doctor will recommend that your consider having an amniocentesis or CVS to confirm the diagnosis. It is up to you to decide whether or not to have this testing. 

It is important to note that most fetuses with Down syndrome show no abnormalities on ultrasound. Often people are falsely reassured by a normal ultrasound because they believe it means that there are no problems with the baby. Unfortunately this is simply not true. Having a normal ultrasound is great and is somewhat reassuring, but it is not a guarantee that everything is perfect. 

https://downsyndrome.about.com/od/diagnosingdownsyndrome/a/diagnosislong_r_2.htm


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## karolynca

I think other tests beyond the Amnio include CVS and the Maternal serum screening tests called (triple screen).

Amnio and CVS are the real diagnosis tests for Down or any other suspected trisomy. The ultrasound and the triple screen are considered screening tests not diagnosis tests.


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## karolynca

And to your question...no it's not the end of the world...:hugs:


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## PurpleHaze

Thanks Karolynca, it's nice to hear from someone with so much knowledge on the subject. I've been googling it which is probably the wrong thing to do!


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## karolynca

Google is a nightmare!....I have been reading all the info my OBG gave me along with some websites he pointed to me (like the above). Due to my age (I am 39) I need to go thru all the screening and stuff so I am getting educated about it...Are you also labeled high risk of Down's due to your age? or this was a regular scan?


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## PurpleHaze

Mine was just a regular scan, and I'm 32 so I don't know if my age will be a factor or not. Hopefully things will work out ok for both of us. Fingers crossed! Xx


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## Bjs2005

One of my friend's first child was born with mosaic down syndrome. When she was pregnant with her second they did the Nuchal Translucency Screening--Which basically is a test that takes a measurement on part of the fetus along with a blood sample of the mom and determines the moms risk for having a baby with down syndrome or other chromosomal defects. If the measurement on the baby is really big that's usually an early sign of a defect. This picture is of the measurement they take of the baby. Its the fluid on the back of the baby's neck. I hope this helps!

As for your pics, I am not very good at guessing so I will leave it up to your docs!

**These are not my pictures, I got them off the Internet.
 



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## MindUtopia

Did you get the screening test booklet from your midwife at your booking appointment? It's a thick booklet published by the NHS called "Screening Tests for You and Your Baby". There's about 15 pages of information on Downs and the meaning of the screening tests and your options if you find out your baby might be at risk. We actually didn't opt for the screening, but I still read about it and that section was really informative. But no, you can't tell anything just from a scan and _way_ more people come up as high risk from the scan and blood tests than have babies with Downs or another chromosomal disorder. Did they tell you the results of your blood tests as well? I think usually they take the NT measurement and the results of your blood tests and then advise you what to do next depending on what the results are combined. So if you haven't heard back yet, hopefully you will soon. And no, it isn't the end of the world. Though obviously that doesn't even mean there's anything wrong, there are plenty of families with amazing kids with Downs. :hugs:


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## nyllioness

Hi PurpleHaze - I hope I can help you a little based on my experience. I am 35 now but I was 23 when my 2nd daughter was born and she was born with Down Syndrome. (She's 11 and just started 6th grade today! Where does the time go?!) First let me say that karolyn is exactly right - the nuchal screening is simply a noninvasive way of "helping" you decide if you want further testing (with higher risk involved). They also do the bloodwork that is supposed to help determine your chances/odds of DS. (By the way the bloodwork is known to have a high # of false positives.) Amniocentisis is the only way to determine with 100% certainty before birth. As most of us know this comes with pretty significant risk to the baby. I want you to understand a few things though. My pregnancy with my daughter, except for hyperemesis gravidarum (severe ms), was very typical. I "passed" all of the tests with no concern. I had several ultrasounds throughout due to complications in my 1st pregnancy and my dr wanted to be extra cautious. NONE of my ultrasounds or bloodwork showed any reason for concern. When my daughter was born she passed her Apgars with 9's and seemed perfectly healthy. However, there was something in her facial features that seemed a little "off", but the nurses assured me she was healthy and there was nothing to worry about. About 2 days went by when a dr I had never seen before came in and told me that "We believe there may be a problem with your baby and we would like to do some tests." (All while he's carefully inspecting every inch of her.) Of course I say " What problem and what tests?" He was very evasive and wouldn't give me a direct answer, just said he didn't want to say yet and cause me unneccessary worry. (REALLY??) Anyway I over heard him tell the nurse to have a alpha fetoprotein test done. I immediately remembered reading during my pregnancy that this was for DS. We waited an entire (seemingly endless) 2 weeks for the results of the chromosome testing before we were told that our daughter did, in fact, have Down's Syndrome.
The most difficult part of the entire thing (even until now) was the shock, feeling blindsided by the whole thing. No chance to learn about Down's Syndrome before she came, etc. There is no question that we "mourned" the daughter we thought we were going to have while adjusting to the new reality. We were absolutely blessed from the beginning because my daughter (Josalyn) was born with no serious heart defects and no gastrointestinal issues that required surgery. So once we got the diagnosis I threw myself into learning everything I could about DS. And yes, there is no question, Joslayn requires a little extra time , attention, help. My daughter's largest delay has been her speech, which is something we still struggle with. Yes, she gets speech therapy, occupational therapy, physical therapy. Yes, she sees the doctor more than my other children. Yes, she's 11 and still needs help tying her shoes or things like that. What no one tells you is how much like "other" children kids with DS are. I don't speak to her any differently than my other girls. She is adored in school, has many friends , and is the kindest kid you'll ever meet. She loves to dance and sing. Loves Selena Gomez and Justin Beiber. Loves pretty clothes. Really loves ice cream.:haha: Anyway my point is that even though I know how hard it is to understand until you are the parent of a child with DS, *there is nothing to fear from a diagnosis of Down's Syndrome.* I realize we are more fortunate than some because as I said before she has a healthy heart and no surgeries. But I know 2 people who's baby's were born with severe heart defects without DS. These are things that can happen regardless. If I had known before she was born I would have been better prepared, yes. I could have learned before she joined us here on the outside. :haha: But other than that, it would not have changed our journey at all. Yes, there are difficult times, things that will always bother me. She'll never have a drivers license, probably not have children. (Almost definite that her children will be born with DS also). People that will never give her a chance. These are no different though, than fears that I have for me other children. (Different things, but same feeling)
Anyway I'm sorry that this became so long but I want you to know that the tests are in no way something you should depend on . And the results don't need to be feared. Trust me , DS or not you will love your baby exactly the same! He/she will be a member of your family just as much as every one else!


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## nyllioness

Sorry, just one more thing. My doctor felt horrible about not being able to give me some type of "warning" with Josalyn, so in my pregnancies after her, was extremely cautious, sending me for scans every 2 weeks, etc. I also have been through tons of genetic counseling. This is when it was first explained to me about the statistics for mother's over 35. These statistics are actually very misleading. A significant reason the "chances" are higher at that age are because less women at that age are having babies that in there 20s for instance. This was told to me by several genetic specialists and makes a lot of sense when you think about it.


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## karolynca

nyllioness first of all...what a beautiful post!!! you have me almost at tears here. My husband has an aunt with a boy with DS, he has been blessed in terms of not having heart or gastro issues as well and he is the sunshine on the family. Statistics, tests, numbers...Drs...nothing will ever tell you really what the journey of parenthood really hold for you...but I agree nothing will ever tell the good days, the good times, the strengh and the joy of parenthood...Josalyn is really blessed to have such a mom and such a family!!!!:hugs:


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## sargentgirl

nyllioness said:


> Hi PurpleHaze - I hope I can help you a little based on my experience. I am 35 now but I was 23 when my 2nd daughter was born and she was born with Down Syndrome. (She's 11 and just started 6th grade today! Where does the time go?!) First let me say that karolyn is exactly right - the nuchal screening is simply a noninvasive way of "helping" you decide if you want further testing (with higher risk involved). They also do the bloodwork that is supposed to help determine your chances/odds of DS. (By the way the bloodwork is known to have a high # of false positives.) Amniocentisis is the only way to determine with 100% certainty before birth. As most of us know this comes with pretty significant risk to the baby. I want you to understand a few things though. My pregnancy with my daughter, except for hyperemesis gravidarum (severe ms), was very typical. I "passed" all of the tests with no concern. I had several ultrasounds throughout due to complications in my 1st pregnancy and my dr wanted to be extra cautious. NONE of my ultrasounds or bloodwork showed any reason for concern. When my daughter was born she passed her Apgars with 9's and seemed perfectly healthy. However, there was something in her facial features that seemed a little "off", but the nurses assured me she was healthy and there was nothing to worry about. About 2 days went by when a dr I had never seen before came in and told me that "We believe there may be a problem with your baby and we would like to do some tests." (All while he's carefully inspecting every inch of her.) Of course I say " What problem and what tests?" He was very evasive and wouldn't give me a direct answer, just said he didn't want to say yet and cause me unneccessary worry. (REALLY??) Anyway I over heard him tell the nurse to have a alpha fetoprotein test done. I immediately remembered reading during my pregnancy that this was for DS. We waited an entire (seemingly endless) 2 weeks for the results of the chromosome testing before we were told that our daughter did, in fact, have Down's Syndrome.
> The most difficult part of the entire thing (even until now) was the shock, feeling blindsided by the whole thing. No chance to learn about Down's Syndrome before she came, etc. There is no question that we "mourned" the daughter we thought we were going to have while adjusting to the new reality. We were absolutely blessed from the beginning because my daughter (Josalyn) was born with no serious heart defects and no gastrointestinal issues that required surgery. So once we got the diagnosis I threw myself into learning everything I could about DS. And yes, there is no question, Joslayn requires a little extra time , attention, help. My daughter's largest delay has been her speech, which is something we still struggle with. Yes, she gets speech therapy, occupational therapy, physical therapy. Yes, she sees the doctor more than my other children. Yes, she's 11 and still needs help tying her shoes or things like that. What no one tells you is how much like "other" children kids with DS are. I don't speak to her any differently than my other girls. She is adored in school, has many friends , and is the kindest kid you'll ever meet. She loves to dance and sing. Loves Selena Gomez and Justin Beiber. Loves pretty clothes. Really loves ice cream.:haha: Anyway my point is that even though I know how hard it is to understand until you are the parent of a child with DS, *there is nothing to fear from a diagnosis of Down's Syndrome.* I realize we are more fortunate than some because as I said before she has a healthy heart and no surgeries. But I know 2 people who's baby's were born with severe heart defects without DS. These are things that can happen regardless. If I had known before she was born I would have been better prepared, yes. I could have learned before she joined us here on the outside. :haha: But other than that, it would not have changed our journey at all. Yes, there are difficult times, things that will always bother me. She'll never have a drivers license, probably not have children. (Almost definite that her children will be born with DS also). People that will never give her a chance. These are no different though, than fears that I have for me other children. (Different things, but same feeling)
> Anyway I'm sorry that this became so long but I want you to know that the tests are in no way something you should depend on . And the results don't need to be feared. Trust me , DS or not you will love your baby exactly the same! He/she will be a member of your family just as much as every one else!

What an amazing post. I have tears streaming reading this. You really have touched me. Me and my husband decided way before getting pregnant with this baby that we wouldnt be having the screening for DS, as for us, it would make no difference to the outcome of my pregnancy. You have just enforced the fact that I know for us, we have made the right choice.

Your children are very lucky to have you as there mother  xx


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## PurpleHaze

Thank you so much for your lovely post. It's so nice knowing you can come on this forum and get support and reassurance from lovely people like you. I know it's not the end of the world to have a child with DS - and the tests can't tell you everything about your baby anyway - but it's good to be prepared. 

Like you said, the more information you have before the baby is born, the better prepared you can be. Your daughter sounds lovely, and she is lucky to have you as a mommy.


Xxx


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## New Mrs W

nyllioness said:


> Hi PurpleHaze - I hope I can help you a little based on my experience. I am 35 now but I was 23 when my 2nd daughter was born and she was born with Down Syndrome. (She's 11 and just started 6th grade today! Where does the time go?!) First let me say that karolyn is exactly right - the nuchal screening is simply a noninvasive way of "helping" you decide if you want further testing (with higher risk involved). They also do the bloodwork that is supposed to help determine your chances/odds of DS. (By the way the bloodwork is known to have a high # of false positives.) Amniocentisis is the only way to determine with 100% certainty before birth. As most of us know this comes with pretty significant risk to the baby. I want you to understand a few things though. My pregnancy with my daughter, except for hyperemesis gravidarum (severe ms), was very typical. I "passed" all of the tests with no concern. I had several ultrasounds throughout due to complications in my 1st pregnancy and my dr wanted to be extra cautious. NONE of my ultrasounds or bloodwork showed any reason for concern. When my daughter was born she passed her Apgars with 9's and seemed perfectly healthy. However, there was something in her facial features that seemed a little "off", but the nurses assured me she was healthy and there was nothing to worry about. About 2 days went by when a dr I had never seen before came in and told me that "We believe there may be a problem with your baby and we would like to do some tests." (All while he's carefully inspecting every inch of her.) Of course I say " What problem and what tests?" He was very evasive and wouldn't give me a direct answer, just said he didn't want to say yet and cause me unneccessary worry. (REALLY??) Anyway I over heard him tell the nurse to have a alpha fetoprotein test done. I immediately remembered reading during my pregnancy that this was for DS. We waited an entire (seemingly endless) 2 weeks for the results of the chromosome testing before we were told that our daughter did, in fact, have Down's Syndrome.
> The most difficult part of the entire thing (even until now) was the shock, feeling blindsided by the whole thing. No chance to learn about Down's Syndrome before she came, etc. There is no question that we "mourned" the daughter we thought we were going to have while adjusting to the new reality. We were absolutely blessed from the beginning because my daughter (Josalyn) was born with no serious heart defects and no gastrointestinal issues that required surgery. So once we got the diagnosis I threw myself into learning everything I could about DS. And yes, there is no question, Joslayn requires a little extra time , attention, help. My daughter's largest delay has been her speech, which is something we still struggle with. Yes, she gets speech therapy, occupational therapy, physical therapy. Yes, she sees the doctor more than my other children. Yes, she's 11 and still needs help tying her shoes or things like that. What no one tells you is how much like "other" children kids with DS are. I don't speak to her any differently than my other girls. She is adored in school, has many friends , and is the kindest kid you'll ever meet. She loves to dance and sing. Loves Selena Gomez and Justin Beiber. Loves pretty clothes. Really loves ice cream.:haha: Anyway my point is that even though I know how hard it is to understand until you are the parent of a child with DS, *there is nothing to fear from a diagnosis of Down's Syndrome.* I realize we are more fortunate than some because as I said before she has a healthy heart and no surgeries. But I know 2 people who's baby's were born with severe heart defects without DS. These are things that can happen regardless. If I had known before she was born I would have been better prepared, yes. I could have learned before she joined us here on the outside. :haha: But other than that, it would not have changed our journey at all. Yes, there are difficult times, things that will always bother me. She'll never have a drivers license, probably not have children. (Almost definite that her children will be born with DS also). People that will never give her a chance. These are no different though, than fears that I have for me other children. (Different things, but same feeling)
> Anyway I'm sorry that this became so long but I want you to know that the tests are in no way something you should depend on . And the results don't need to be feared. Trust me , DS or not you will love your baby exactly the same! He/she will be a member of your family just as much as every one else!

:hugs: beautifully worded and written. Thank you, and what a lucky set of girls you have to have such a lovely mummy xxx


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## prolifer

I believe DS isn't the end of the world, I've met some of these PEOPLE and they really are the kindest you'll ever meet :) https://www.theblaze.com/stories/move-over-99-meet-the-loveable-10/


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## lhancock90

Of course its not the end of the world.
My friends brother has DS and they always say, hes just an even more special gift, and hes a lovely lovely little boy :)


xx


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## nyllioness

Thanks everyone - I'm really glad that my point came across. I just think that there are so many things we worry about during pregnancy, I want people to know that this isn't something to be feared. Of course we all want our children to be born "perfect" but having been through this its not something I worry about anymore. Its the unknown that is the scariest in all situations and now that I know I wish others could see through my eyes to ease their worry. Wishing all of you a H & H 9 months and beyond!


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## XJessicaX

Sorry, havent read all the replies as on phone but Downs children often have a flattened bridge of the nose. Its one of the things that is checked in the 20 week scan as its a soft marker.
You NT score although slightly high really isnt THAT high, I know women who had babies with 7mm of fluid behind their necks and who have gone on to have perfectly healthy babies.


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## PurpleHaze

Thanks everyone. 

We had our second scan today and the nuchal thickness has dropped to 3mm, and the baby has a clear nasal bone, which is encouraging. I have realised that DS isn't nearly as bad as I first thought, and I know that if my baby is born with DS, then she'll get as much love and support as I can possibly give her.

Thanks again for all your replies, this is a lovely forum! :flower:


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## drsquid

another thing to consider is getting the maternti21 test. this is a noninvasive blood test that looks for fetal dna in the maternal blood. more specific than the screening bloods and has no risks of miscarriage. it might be worth looking into if you are on the fence about whether you want amnio etc


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## I Love Lucy

I have my genetic screening appointment Tuesday when I'll be 10+6. It's a non invasive blood test and an ultrasound. So yes, they could tell if you are at a higher risk of having a baby with downs that early but I wouldn't consider just an ultrasound to be a conclusive result.


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## prolifer

I do feel anger towards those who opt out of a pregnancy because of DS but you hear horror stories of the ones who are aborted perfectly healthy after being diagnosed with DS improperly. Don't know whether to be angry or feel sorry for the mother.


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## Spot

One of my biggest fears because of my age (42) is Downs. I'll just have to cross the amniocentesis bridge when it comes


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## Gertie beetle

No personal experience, but my cousin has had false positives with both of her pregnancies. Her babies are 100% fine.


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## drsquid

prolifer- stop stirring up trouble. people make the decisions that work for them and their family and don't need uninvolved outsiders sticking their noses in.


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## prolifer

What trouble?


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## Spot

I expect it's the anger bit you posted, it's a bit harsh on those who decide not to bring a disabled baby into the world.


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