Should I get First Trimester Screening for down syndrome?

Hi all

I am 7 weeks pregnant & just came back from my first OB appointment today. I am 27 yrs of age. My doctor gave me a choice if I wanted to take the first trimester screening for down syndrome? & he explained to me the consequences & further tests involved in case I am a high risk category.
He asked me a simple question which has confused me so much- he said " If you are low risk, its fine but Incase you are high risk, are you prepared to take the next step which is aminocentesis test in which they put a needle to take sample of amniotic fluid to do further tests & rate of miscarriage increases a bit- he said if you are not going to do that- there is no use of taking the first trimester screening test b'coz its of no use otherwise. Its merely a screening process. If you are low risk, its good but if you are high risk but are not prepared to take further tests.... its a waste!

I understand its not mandatory to take these tests . Can anyone tell me from their experiences that is it really necessary to take this test? b'coz my understanding is that even if you are high risk- the chances of having a baby with the down syndrome are very less- so why undergo the test & worry yourself for the rest of your pregnancy & undertake the further risky aminocentesis test if you are high risk (as the chances of miscarriage increase when you get aminocentesis in case you are high risk)?

My other side of the brain says its good to get the tests done & know whats possible so that I am prepared for the worst case scenario that might come in the future??

I am sorry if I have confused you but I am so confused myself whether to get the screening done or not?
any suggestions, experiences,thoughts will definately help on first trimester screening... do all of you get it done without thinking too much? Please help me decide.

Thanks
God Bless
:-))

Congratulations on your pregnancy Dispy.!!

The NT scan at 12 weeks is really a personal choice - it used to be a test done in women over 30 but is becoming more of a routine ultrasound with it being offered to every pregnant women.

It is definitely not an US that you need to do, especially if you are aged under 30, have no family history of DS, etc.

I guess the main question to ask yourself: if you were told that you were high risk, would this make you feel differently about the pregnancy - and if your child was DS would you abort? If you are not prepared to abort - there is no reason to have the test.

I had the test with DS because I took it as a chance to see him and to make the pregnancy more real to us, we tried for 3 years to conceive and he was an IVF child. I wasn't going to have the NT scan done this time, (am 27) but have since found out we are having twins, and they "recommend" to have the scan done. So I will, but would not have an amino - regardless of results.

Don't feel pressured either way, and even if you have the scan - that doesn't mean that you HAVE to have further tests such as an amino if you are considered "high risk" this again will be your decision because the m/c rate is around 1-in-100 I think.

Goodluck with your decision - unfortunately as I said it is a personal one that only you and your DH can make.

Take care,
Diane

Hi Dipsy
At 27 years old I would say that you are a low risk of having a Downs syndrome child. The test your doctor is talking about is done by an ultrasound and measurers the fluid at the back of your baby’s neck. This test will not tell you that your baby has downs but it can indicate that your baby is at a higher risk of being born with downs syndrome.
Amniocentesis does increase the chance of miscarriage by between 1% and 2% however it is a much more accurate test.
One of the things you need to consider is, should the test indicate that your baby does have downs syndrome would you have a termination? If the answer is no then there is no real point in testing for it. As I said earlier you are young and if there are no other risk factors such as a downs syndrome child in your family then i would say that you are at a low risk.

Hi Dipsy

My sister gets the testing done because she would terminate a DS child.

I don't test because I wouldn't abort, and I don't want to have to be faced with that when pregnant.

Good luck with whatever you decide to do.

The test that they are talking about will only give you a risk factor and chances are that, based on your age, the risk will be low so that's why some doctors see it as a waste of time.

Once you hit 35, they recommend testing because the chances are higher solely based on your age. But the 12 week test only gives you a risk factor, it doesn't give you a definitive yes or no.

If the risk is higher than about 1 in 300, they recommend that you have an amnio because that will tell you yes or no. But the downside of an amnio is that it can carry a risk of miscarriage.

These days more babies with Downs are being born to women aged BELOW 35, probably because women over 35 test for it and then go on to have amnios and terminate.

I had screening because of my age with DD and luckily my risk was low so I didn't need to have an amnio.

People don't just have amnios with a view to termination. If I was in a situation where the first screening results were not good, I think I would have an amnio so I knew for sure. I have thought and thought about what I would do if the result was positive and I just don't know BUT I do know that I would want to know beforehand and mentally prepare for having a child with Downs.

Having said all that, you ARE low risk because of your age so please don't worry too much - the statistics are on your side in this.

I fell pregnant with DD#1 when i was 27 and i didnt have the full tests. Im 33 now and pg with #4 and i will be having the screening done in 2-3 weeks time.

I agree with Fionas - i intend having it done not because if there were a risk of downs i would necesarily terminate, simply i would want to be fully prepared and equipped with every ounce of knowledge and support should i receive unpleasant results......

i think saying that you should only have the test if you're prepared to terminate if you have a child with Downs is frankly appalling! no offence to anyone that thinks like that - but terminating isn't your only option - being prepared for the different life you're about to be faced with is just as important for many people.

i WILL be having the NT scan - i'm 28 - and yes, we have family with history of disability - not DS - but other genetic conditions which i believe might be shown as higher risk via NT scanning. i will NOT have CVS or amnio, i would never terminate unless there were chromosomal abnormalities incompatible with life. But i would sure as hell handle the notion of a Downs child better if i knew my risk was 1 in 5 as opposed to 1 in 5000. it wouldn't change my love for my child - but it will prepare me for the possibility that it might happen.

if you want to have the screening test, have it - your doctor ing amnio/termination is a load of crap - that's essentially dismissing the life of a child just because it has DS - and i find that disgusting. if you choose to just know what your chances are, it is entirely YOUR choice




ETA - a friend of mine came back with a high risk based on NT scan and bloods - she chose to have amnio and confirmed that her little boy had DS - the amnio resulted in a leak of amniotic fluid, and at 24 weeks her boy was stillborn. she didn't regret the NT scan - she would have embraced her little DS boy - she regretted the further testing that resulted in him losing his life

I guess that for us (I was 23 at the time) we approached the NT scan as really a fun chance to see our bubs for the first time. i felt that it would be a good bonding for all of us DH included to actually see that gorgeous heart and limbs and head moving around in there. really the nuchal test was just the sideshow to the glorious moment of seeing our little baby. I will do it again with other pg no doubt.

it was nerve racking having to get the results a few days later, no one wants to be told that there may be something wrong with bubs, but like the others have said, i also wanted to know so that i could start to think about what our options were and how far we would be prepared to go for testing. i know that i will go for further testing if the results were high risk, but again, that's a truly personal decision.

p.s. we stuck the ultrasound piccies on the fridge so that everytime we went into the kitchen we could see our baby! lovely!

I'm 34. I was always going to have the NT test, and if the risk factor was high, I would have had an amnio to test further.

My reasons for having the test were:

- if we were going to have a child with a high chance of a detectable problem such as Downs Syndrome (as I understand it, the test doesn't only test for that, but will also pick up on other possible chromosonal problems), I wanted to know about it. This would allow my husband and I to first decide whether to keep that pregnancy or not, and if we did keep it, to prepare as best we could for the particular things that life was going to present for us. For me, it would be really bad to not get the test and then to have a baby with some problem that would have been picked up by the test. Not because it would be bad, necessarily, to have that child, of course, but because we would not have had the opportunity to discuss it between ourselves and to make what we felt was the best decision for our family.

Basically, there was no way I would put myself into a position where we would later regret not having the test because we actually needed that information.

I absolutely agree that there can be very good reasons for having the test even if you know you would definitely not terminate a pregnancy with a high chance of Downs Syndrome.

- secondly, it's another chance to get a look at the baby, to see that it's there and growing and healthy. And this is a wonderful thing :)

I did some reading about the amnio procedure, and my conclusion was that it matters a lot who does it. In this case, all doctors are not equal. So if I needed an amnio, I would have asked my OB to refer me to whoever she thought was the most highly skilled person in my city to do it, and we would certainly have cheerfully paid whatever it cost to do that. My understanding is that this would dramatically reduce the risk of amnio-induced miscarriage, so worth paying for, in my opinion.

Unless you are willing to have an amnio or a CVS it is pointless having the NT scan as all you will get is a risk factor which tells you absolutely nothing. Not all DS cases are picked up as high risk by the NT scan or by later ultrasounds as there isn't always a noticeable marker.

I had the NT scan & came in as high risk for DS 1/37 low risk for the other one they measure. My bub had a large NT measurement & of course my age didn't help the result.

I had the amnio done by a very skilled doctor & all went well. The result said no abnormality detected. My bub was born without DS.

Had I not had the amnio done I would've spent the rest of the pregnancy worried that I was having a DS baby.

i must be in the minority in thinking that having a risk factor is worth knowing. you can have a 1 in 3000 risk and still end up with a bub with DS, but at least you know it's only a small chance.

i can't see why people feel that you should only have the test if, when you get a less than 1 in 300 chance, you're prepared to have the amnio! seriously, if i came back with a 1 in 100 chance, i'd accept that there was a 1% chance that my child may have this problem - it's all about how much you're prepared to rely on "chance". i just find it really disappointing that everyone is saying "if you won't have the amnio don't bother with the scan". that's essentially saying that no one deserves to know their RISK factor if they're not prepared to have further testing! an amnio is invasive and risky. WHY should I, if i have a 1 in 100 chance of having a child with DS, that i would love no matter what, risk that childs life and have just as high, if not HIGHER chance, of miscarrying, just to tell me whether or not that child has dodgy chromosomes

it's all about knowing the risk. if you're someone that needs absolutes, then fine, ONLY have the scan if you're prepared to have the amnio. but really, we ALL have chances that something is going to be wrong - isn't it better to know you have a slightly higher chance of a DS child than to go through this blindly

this is just MY OPINION - but i really think those on the amnio bandwagon need to look at it from a different perspective. HIGH chance of DS doesn't necessarily mean you HAVE to have an amnio - it means you have to be prepared that you might have a child with a disablility! big difference

I was 29 when pregnant with my first DS. I didn't have the test done because I felt I was in the LOW risk category.
At our 20 week US we found out that our DS had a bilateral cleft lip and possibly palate as well.
This sent me into a spin big time and was sent for further ultrasounds. Whilst having a secondary scan they suggested having an amnio to rule out other possible syndromes associated with a cleft.
I did have the amnio but only because I wanted to know what we were dealing with and if my babies quality of life was at risk. Only then would I make the decision to terminate.

My results came back clear and I carried on with my pregnancy without the concern of anything going to be wrong. He is a beautiful bundle of joy!!!!!!!! I was very scared tho to have the amnio but the statistics of me misscarrying weren't that great so I felt it was worth it!
Having said that even if I had the early screening test you are talking about it would not have picked up the cleft....that is something only the 20 week scan picks up!
I will in future have the test tho and only because I would want to be prepared like we were for the cleft...not because of termination.

I told you my story just to shed some light on the stigma these tests have. It is utimately up to you and what you would do if the worst case senario came back...ask yourself if you would like to know or not????

Oh and by the way his palate was not involved at all so we were prepared for worse case senario and it was the best news when he was born that it wasn't as bad as expected!!!
xoxoxo

Good luck with your decision tho..it is a hard call but your gut feeling will tell you what you should do!

Briggsy's Girl, as you said everyone has their own opinions and no one is right or wrong when it comes to something like this - comes down to personal choice. And every person is different.

Some people think why spend the pregnancy stressing thinking that something is wrong with your bubs - when essentially the testing isn't fool proof itself, there has been lots in the media this year about the inaccuracy of the NT scan.
Yes the amino will give you an absolute yes or no - but this comes with risks - so people think, why do the scan when I wouldn't do any further testing? Why spend the pregnancy thinking something is wrong, when essentially there is a very good chance that everything is fine. Especially as OP is only 27.

I would personally prefer to go through the pregnancy not knowing something was wrong - this is my personal opinion though. I would love my child no matter what and feel confident that I would receive information required by the correct services if my child was born with down syndrome.

A lady from another forum, had her baby back in July. Was not considered high risk for DS and her little man was born with DS. It was as shock for her, only because she had the test and was told it was 1 in 3000 chance - but there is always still a chance. Someone has to be that 1 person.

It is good that we can discuss this though - and hopefully make people better informed about their choices.

i agree we all have the right to choose - i guess i'm just getting frustrated at the assumption in so many posts that you shouldn't have the scan unless you're prepared to have amnio - and the DS confirmation = reason to terminate

was trying to put a different perspective on it....

I thought I would throw my two cents in.

I am 25 and pregnant with my first. I chose not to have the bloodwork done, but did have a scan at 12w2d (today :dance:) to look at bean before we announced it to our families.

We would not abort (personal reasons) but mostly we were just content to wait and see what we had been given, and if our child has DS, then so be it. We would embrace and love the child like any other.

What you do in the end is up to you. Remember that you can stop whenever you like, a scan without amnio is still informative. Good luck making your decision :).

Congratulations on your pregnancy, Dipsy. I'm going to go the middle road and say, 'go with your gut'.
If you would like to have a scan and see your baby - go for it! I can totally understand this desire.
For me, I didn't have the NT scan last time and I wont this time. I'd love to see my baby but I choose to just have the one u/s in my pregnancy (provided it looks ok and subsequent scans are not required). This is a personal decision and one I'm struggling with this time round. I'd love to know that all is ok with my bubs, but I'm going to have to trust the doppler at my booking in appt.
If you feel the scan wouldn't make any difference to you, don't have it. Simple as that. On the other hand, if you would like to have it just for the hell of it, have it. Don't let your OB complicate the issue with 'further testing'. Decide on this one first, then deal with 'further testing' if and when it arises. That's the way I consider it, anyway.
GL with your decision.

I had the scan and bloodtest done. I was 22 when I had it done and my result ended up being something like 1:21,000. I dont think I would have terminated my pregnancy if the risk was high or positive, but it was something that I'd have like to have known about so that I could prepare myself for a special needs child and maybe even get involved in a support group or something early. I also just wanted to have a sticky beak at my baby too!

Medical professionals follow the 4 principles of bioethics being:
1) respect for autonomy (the right to make decisions for one's self)
2) beneficence (to do good)
3) non maleficence (to do no harm)
4) justice (to act fairly)

Prenatal screening is not usually recommended for those who have made the decision that they will not undergo further (invasive) testing as it goes against the principle of non maleficence.

The benefit in screening is that if a high risk is identified, the mother is able to have further testing (CVS or amnio) that can identify whether the child has the chromosomal variation that is indicated by the screen.

In most cases, a high risk result is not seen as beneficial for any reason other than for further testing (because screening is not definitive), unless the woman is hoping for a child with a chromosmal variation and is reassured by the result. A high risk result may cause worry and anxiety and this can be harmful to mother, which goes against the principle of non-maleficence.

The principles of bioethics must be weighed against each in many different medical circumstances. A woman should not be refused a screening test because they have stated that they will not have further testing if the result should come back as high risk because this goes against the principle of respect for autonomy. However, it is important that they are given information and are aware that the result may bring harm to themselves without the benefits.

Some women do see benefit in knowing that they have a high risk, without the need for further testing. And thus respect for autonomy, allows them the right to make the decision on whether or not to have testing.

What is also forgotten in this time where screening for certain conditions is becoming more common than not is that ALL women have a 3-4% chance of their child being born with a disability or medical condition of some sort. Not all of these conditions may be recognised or tested for prenatally. A low risk result for one screen can not protect you from all of these.