Down Syndrome

I am having the down syndrome testing done on the 22nd December and was just woundering if anyone can tell me what they do??:P

Hi mylilangle,

What test are you having done the CVS or amnio ?
Have they not got you to speak to a genetic counsellor to explain what goes on and how long it takes for your results to get back ?
What was your results after your NF scan ?

I had a amnio done at 16wks and what they do is a scan and then while doing the scan the OB sticks a needle into your belly and draws some amnio fluid to send away for testing. This all can take 15mins to do but only a few mintues with the needle. I had to wait two weeks for my results but i know some will offer the FISH ones it just depends on what they see at the scan.

Thanks Caro didn't even notice I did that

I'm also having the NFT scan on the 22nd! I'm really looking forward to finally knowing whether all is ok.
A question though - when I booked in with my ob for the scan, the receptionist mentioned that the ob prefers to do a vaginal scan as it's clearer/more accurate. It this the normal practice? I'm told I don't have to have the scan done vaginally, but I guess if it's likely to be more accurate I'm happy to.

I had the NFT with Mya, but was never told about a vaginal scan. Hmm maybe it is normal practice & i just wasn't told. Good luck anyways:D

i had the NFT and it was quite simple and i liked the fact that the sonographer confirmed on the spot 'yes all looks good' etc, so i knew everything was heading in the right direction.
haven't heard of a vaginal scan though.... aaagh the joys of pregnancy.

When I had my NT scan they did it the usual way and didnt even mention anything about a vaginal one. I thought they only did it that way if it was really ealy, though they did stress to me the importance of having a full bladder so the scan could be done properly.. maybe if your bladder is not full enough and they cant see baby well they might want to do it vaginally? But then again, i didnt have a fullbladder at all and they did the scan just fine.

any how, hope the scan goes well! I loved seeing our beatiful bubba for the first time! Its just the best.

Girls I have had to have a vaginal scan at 12 weeks when the picture has not been clear enough to get the measurement. If you are a bigger person, sometimes they need to do the internals.

They do try the external first though, and then depending on that they may need to do a vaginal

I had a NT on Monday - abdominal and vaginal because I have a retroverted (backward tilted) uterus. It was also needed because *alf* is a stubbourn bubba and refused to be in the correct position so we are back next Monday to try again :D

Usually you only need te abdominal view.

I have a retroverted uterus and an uncooperative baby, but they still managed it with just the abdominal scan. I was told at 12w a retroverted uterus made no difference - even at 9w the only difference it made was they had to press down a bit harder on my full bladder!

Yep, me too. Retroverted and never had a vaginal scan. Seems rather odd that by 12 weeks you would need a vaginal scan. I also thought it was only used until around 8 weeks, but obviously there are situations were it is used later on.

Anyway, back on track. All the best with your NT scan it's awesome because your baby actually finally resembles a baby, not a splodge on the screen.

I've declined all scans/tests for Downs. Just don't think it's necessary for me.

Mylilangle
At 27 you are very unlikely to have anything wrong - but has anyone sat down and asked you what you will be doing if things don't turn out well?

Debbie Lee reminds me of something very important. You should ONLY have these tests you are prepared to make a decision about what to do in the event that something is wrong. Your caregiver should be explaining this to you BEFORE you have the tests.

If you have any concerns at all that you might not be able to make a hard decision in the event something is drastically wrong - then talk to your caregiver about skipping the test. It's not compulsory.

On the other hand a positive result can give you immeasurable peace of mind!

Is there a certain time that you go in to do the downs testing?? Cause I see my m/w for first time at 13wks and then I go and see my doctor some time after that. I have heard it should be done around 12wks, shall I go to my doctor to get a referral??

Ngala - speak with your midwife - the idea time is before 13w6days. My Ob was very fussy about making sure it was as close to that date as possible and I had to have the blood test and the u/s on the same day. Others are less strict and you can have bt earlier so that results are in when you have U/S. They multiply both results together to give you a probability. Mine was 1 in 475. For my age group the average is 1 in 84 (I was 39 when I had it done) which means my results were really good for my age. Women under 30 have a 1 in 10,000 or something amazingly low. HTH.

Thanks Kar and Fletch for the information.
We do want to do the downs test (as well as see our bub!!) I might go and see my dr in the new yr to get a referral as he is going on holidays soon.

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Family history is no indication of risks for Downs Syndrome, as it's a genetic mutation not a genetically passed down trait. So deciding not to have the scan because of no family history is false logic.

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My friend was told she'd have to have an amnio because her cousin has downs syndrome?? How frustrating that people are still told that family history has something to do with it. I know I was told that too.

Ohh ok.
Can the amnio show the severity of downs syndrome? What if it's only a mild case? Just curious.

Can I just say that I think this is a very sensitive topic. And we all need to remember to respect each others views and choices on this topic.

Just putting my mod cap on for a minute :)

*hugs*
Cailin

Deb it will only show you if the baby has DS and not what kind of DS it will have as you have so many different cases.

Veronica i would go to your GP and get the refferal for the NF as you see the m/w after and they won't do the refferal for you and the same will go for your 18-20wks scan.

If i was to fall pg again after this one i would have the NF done again and have no problems with having another amnio.

Well I saw my doctor today on a seperate issue but spoke to him about when I should go in and he said 13wks. So at about 11wks I am going to go in and get a referral for the u/s as well as the blood test to be done the day before.

Dont know if this has been covered in this thread, but what does the amino involve?

Veronica if your results from the NF and blood test come back lower than 1:300 you will be asked if you want a CVS or amnio done it also depends on when you get the NF results back.
The amnio involes them sticking a needle in to you tummy while doing a u/s to make sure they don't touch the baby and they get a small sample of amniotic (sp?) fluid and test it. The results take 2wks to come back and you will know if your baby has DS or not also you can get to find out the gender at the same time.
If you have any more questions feel free to email or PM.
I had the amnio done at 16wks.

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if your results from the NF and blood test come back lower than 1:300 you will be asked if you want a CVS or amnio done

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I think it is different in different places. Where I went the NFT had to be below 1 in 200 before they asked you about amnio or CVS because that is the point at which the liklihood of a miscarriage resulting from the CVS or Amnio equals the chance you have something wrong. In other words if you were assessed as having a 1 in 300 risk of down syndrome from the NFT - then the risk of miscarriage from the CVS or amnio is higher so they don't recommend you have it.

Caro they normally only offer the FISH results which is the quick result if your risk is below 1:200 that is why a lot of girls have had the rests back quicker and also if the find any problems with the baby when they do the scan.
You can still have the quick result if having a amnio done it just depends on what your risk is and what they see at the scan. You can also pay for the quick result but it's not a final result until you get the full result back two weeks later.

When doing the FISH test they test a cell at a time and if it splits in to 3 they will keep on testing as it means there is a problem. If it splits in to 2 then most cases everything is ok. I was always told best wait for the final result 2wks later as they have tested every cell.

Hi,
the whole thing is a very grey area and definitely a very personal one. I decided not to do any of the testing with all of my pregnancies as I had made up my mind it wouldnt change my decision to have the baby. DH was a little more worried and suggested maybe we should do it so if there is a risk at least we'd be aware of it. In the end we decided against it as we thought it would only make us worry more. My Ob was fine with it.

Caro you would have been given the quick results because you had a 1:85 chance of having a baby with DS.

I think if you went to a private OB you would have to pay the extra to get the results back.

One thing i will say it doesn't matter how old you are you can still be at risk from having a DS baby.
A friend of mine was only 25 when she gave birth to twin girls both born with DS and DS did not run in the family. She never even thought about testing because of her age at the time.

It's a very personal choice to have the 12wks scan and even to have any follow up tests if you do have it done and the results are high risk.
For me to have the amnio done it was for peace of mind, to know what we would be facing at the end of the day.

I think it's something that until you are faced with it you can not make up your mind. I always said i wouldn't have further testing until that day they told me we had a 1:294 chance this baby could have DS. It's a tough thing to have to go through and not a easy thing to do.

This is always a really difficult one and one that we struggle with as mothers.
Many women decide to have the NT done and haven't given a lot of thought to what they will do if a result should come back that isn't so great.

There is a time when the nuchal fold begins to diminish as the baby grows. This makes the measurement less accurate. Many obs don't like to do the test until you are well into your 12th week. This is to ensure that you are not too early or too late - not everyone has had an early u/sound so dates can be a bit iffy.

The *cut off* for when testing is advised does vary from place to place. Generally it's a 1:300 result. This is because the obs that are really good at doing amnio have about a 1:300 risk rate with their procedure. CVS is higher risk because it is essentially a biopsy with greater risk of bleeding and infection. The risk rate again depends upon the operator and I would STRONGLY urge anyone that requires either of these procedures to ask the risk rate of the particular doctor that is doing your procedure.If there is someone that word of mouth tells you is good go with her/him.

The FSH test is offered on both CVS and Amnio but you cannot be 100 percent certain that your result is a okay until the cells are cultured which takes 10-14 days. The FSH gives a very good indicator though. I have had FSH with my DD3 and DD4. I didn't have to pay any extra for it - the specialist I see uses it routinely for all amnio and cvs procedures so again this is something you would need to check when you book in. Also the time frame for amnio varies with the operator too. There needs to be an adequate amount of amniotic fluid in order for the test to be carried out. The further along in gestation the more likely that this will be the case.

Some women choose to have invasive testing when the result of NT u/s isn't so great even if they would choose to continue with a pregnancy. For some families this gives them time to understand what condition their child has and the variables attached to that. It also gives them time to let go of the picture they had and fall in love with the baby that is coming.

So, it isn't always just for people who would choose to interupt the pregnancy.
Again this is such a sensitive subject and one of those procedures that we need to go into with our eyes open and a little bit of background knowledge to truly understand.

The false *positive* (positive being less than 1:300 - it's a screening test so is not a true negative or positive) rate can be high - again you need to ask the specialist doing your u/sound what his rate is...

I believe it is really important to be a fully informed health consumer when going in for this test. Remembering that most women come out of the u/s smiling with happy odds. :hug:

From my literature I seem to remember that it's best, but not necessary, to have the BT in the 10th or 11th week? LOL it's not that long ago for me, but I don't remember anything these days! Can anyone clarify that, and tell me why that is?

My Ob wasn't fussed about it, but I chose to go in twice so I could have the BT at the "best" time. We have a family history of DS (not strong), so I wasn't taking any chances. I was quite concerned actually, but our results were great......1:22,200!

Sez,
I have not heard that before and it's not my experience so I am not sure.
The obs I worked with likes the b/t to be done the day before the u/s. The literature I have read with regard to this supports that the blood test should be done as close as possible to the u/s.

I just want to remind everyone either considering or not considering the NF scan, It is also useful in detecting other chromosomal abnormalities as well, not just Downs. These abnormalities are lethal to your child and start causing problems from the beginning of your pregnancy.

We had the NF scan with Max, never in my wildest dreams did I expect our results to come back bad. We hadn't even discussed what we would do if bubs had DS, we just wanted to see bubs on the screen.

This one scan turned our life into turmoil, Max was measuring 2 weeks behind however the NF measurement was only 1.2mm so we still thought all was OK. We got the results that very afternoon, 1 in 98 for trisomy 13+18.

We chose to have the amnio after a failed CVS (long story) and within 24 hours we got the results, Max had triploidy. He was delivered sleeping 10 hours later, after we intervened.

Many people told me what I had done was wrong because I never gave him a chance, but not one person could tell me that he wasn't already in pain, he had numerous physical abnormalities and was slowly dying. (triploidy is lethal)

That scan changed our whole life, and I would do it again in an instant. I believe having knowledge is a powerful thing, I knew my baby would suffer if I carried him to term and I couldn't do that to my beautiful son.

Sorry for the long post, but I urge you all to please remember the lethal disorders that can be detected as well.

Thanks Caro
I think the problem is, that these chromosomal abnormalities are not talked about as much as DS, and people just don't realise that there is absolutely no hope of the child living. I was told that there is only one child in the whole world that has survived past 4 weeks old with triploidy, as they will not intervene (other than oxygen) on delivery.
We know we did the right thing for Max, and my friends (I know who they are now) have supported our decision, that's all that matters.

I just wanted everyone to know that I deleted my earlier post.
I don't want to come across as insensitive to others. I was merely saying why I chose not to have the tests done... not to attack others. However, I do see that this is a sensitive topic so I thought it best to remove my post - the last thing I want to do is upset anyone. Just thought I'd explain so that no one thinks I'm upset or chucking a tanty or anything! LOL

Thanks Caro.
I've learned the hard way with these forums tho. People can't hear the tone of voice so often things are taken the wrong way. Just not worth leaving the post there JIC.... iykwim?
TBH I didn't realise just how sensitive the topic was until I read a few of the responses.... you live and learn, hey?

Deb i promise you that you didn't come across insensitive at all. It is a very sensitive subject and it's one that is now close to my heart. But each of us do what we think is best for us and it doesn't matter if no one agrees with you it's your choice at the end of the day.

I'm sorry of my post earlier upset anyone so much of this subject is kept in the dark. It's something i never dreamed would happen to us.

Clare i can't believe what ppl have said to you. What you did was the right thing to do and you know i would have been with you the day you had Max. Watching Craig come out of the scan room that day just broke my heart for you both. It was the very first day i met you both and it's brought a great friendship one that i have Max to thank for one day.

Clare :hugs: Sometimes when life doesn't give the pain of something like this to another they have no idea. I am sorry you were treated with insensitivity and the hurt that that has caused. It is a very brave person to make such a judgement on another's decision.
Triploidy is not compatible with life and your journey has been long and painful I wish I could hug you right now in person but I can't ...

I have a concern about women feeling that their test wasn't *right* because the u/s or bloods weren't done at the same time as the next persons. If you follow the guidelines of the practice and doctor that is doing the procedure then that is what is right for you.
I don't want someone to read this thread and think - well my test was done at... so it's not as accurate.

I can't answer why your bloods were done so far spaced Caro - that's not the practice of the fetal medicine units in Brisbane nor the u/s clinics that do nt u/s here. However, it would seem Sez had her bloods taken some time prior to the u/s also. Because I have worked in the field I would be really interested to know though... I will ask next time I see the specialist here and I am sure he will have an answer and I will post it for others information.

As Clare pointed out NT doesn't always tell us what we want to hear - I know before all of mine I have prayed as hard as I could for a good result (I have had 6 nt scans now).

Big big hugs again Clare :hug:

Caro you are so right about being told different things by different ppl. I was told at 27wks i should thnk about not having anymore after this one and then this week i see a different OB at the hospital and he says he doesn't see a problem as lomg as all goes well up until the end of the pregnancy.

I was told a few weeks ago when having a u/s that so many women go in for the NF scan and think all is okay because the NF isn't that big only to find out later they are in the high risk area. I was one of them that also thought that when having my scan. We seem to forget it has a lot to do with the blood test as well and not just what they pick up on the scan.

When i had Alex i had the BT done the same time as the scan with this pregnancy i had it done the week before.

I will just chirp in here again. There are actually guidelines for NT testing. They are quite specific about when u/s is done and when blood test is drawn. This isn't something that differs state by state it is a standard thing. What different practices do will depend on the doctor in that practice and the experiences that have led them to practice as they do. That would be something to discuss with an individual practitioner.


When the blood test is incorporated into the u/s result the number of cases that "slip" through have been decreased to about 5-10%. Without this the rate is around 15%.

It is quite true that the doctor is primarily concerned with the NT measurement - what is an okay measurement is dependent on the gestation. He/she is also concerned about the nasal bone and other soft markers. Fetal Medicine units use very wizz bang equipment and the obs are highly skilled at doing these tests. Babies with chromosomal challenges (even down's syndrome) can and some do have a normal nuchal fold measurement for their gestation. However, it is usually the other soft markers and the bloods that highlight an issue in these cases. It has been shown that the bloods can throw that test when the levels of HcG are high for gestation and the PappA is low for gestation. Both high hcg and low Papp A are indicators of chromosomal irregularities in the baby but are not definite diagnosis of this.

Remembering this is a screening test...

I have personally cared for women who have normal nuchal fold and the bloods being out of whack is what alerted to the possibility of a chromosomal irregularity. I am concerned that people don't think that the blood test is of no consequence because it can be very helpful.

It is true to say that the reliance is placed primarily on the u/s result providing it is done by a highly skilled and experienced operator. But I don't believe it is true to say that it is not helpful at all in this screening process. I do believe it is the cause of the high number of "false positive" screens and I have also personally witnessed this also. So, that in itself is an issue.

The combination of bloods and u/s has only been available for approximately 4-5 years and is a relatively new component of this test.

Again, I really feel strongly that people are not frightened off nor afraid for their own experiences in reading this post.

As in all things health and pregnancy related it is important to seek information from a well documented source. :hug:

Yep flowerchild I totally agree. Max had a normal nuchal fold reading, it was the blood levels that indicated the problem.

Can I just say, Debbie Lee you definately were not insensitive in any way, everyone holds an opinion on this testing and what you do and others do is a personal choice. You have the right to your own say and should not feel bad for feeling the way you do or writing it down. MWAH

My only advice to anyone, is don't Not have the scan because you wouldn't terminate if there was a problem, you really never know how you will feel until you are in the situation. Believe me, I never in my wildest dreams thought I would be in the situation of a life or death decision for my unborn baby, but sometimes it is the choice of least harm and these scans provide you with valuable information.

I am just wondering now whether the OP has had her NF scan or not. lol we seem to have gone completely off topic. lol

Thankyou Michelle and Deb for your kind words, amazingly it was fellow nurses that held this opinion. You would think they would know better!

Thanks for sharing your's and Max's story Clare. :hugs: I know just how long and hard this journey has been for you. Some nurses can find it hard to walk in someone elses shoes - I understand.

I am glad you shared your experience s - I was very alarmed that folk would feel that they may not need the bloods done. Also, as you pointed out it's important to know that the NFT can alert to other chromosomal conditions not just Trisomy 21.
It is all in the hands of the operator. I urge women to seek out the stats of the unit you plan to have your NFT done at so you can feel confident in the outcome... :hug:

My doctor said to go in around 12 weeks for both. The place where they do the scans said that I should have my bloodwork done a few days before the scan. I'm going in for the scan at 12 weeks and 4 days. Originally I was going to just do my blood test at the same time.

Do people usually get the bloodwork done before the scan?

I don't see my doctor until week 13.