Should I get First Trimester Screening for down syndrome?

[briggsy's girl]

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

[leesha]

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!

[dianeandross]

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.

[briggsy's girl]

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....

[Maruschke]

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 ) 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 .

[Snacks]

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.

[Karina]

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!

[HotI]

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.

[Inanna]

This is always a difficult one from a mothers perspective Dipsy & noone can really answer the question but yourself.

As always Kate has made some really good points - very sound advice...

I can see it from a professional view point and as a mother who has now had 7 NT screening tests.

Remember it's a screen and thus you will recieve a risk ratio. Say 1:1200 - this means that for every 1200 women with the same result as you only 1 was carrying a baby with a chromosomal variation. So this will help many to relax.

When your risk is greater than 1:300ish (depending on the practice) you will be offered further testing. When results start getting around here it indicates the higher risk of a problem. Sometimes your risk rate will look ok but you may have other what we call "soft markers". These are markers that sometimes occur in babies with anomalies - but you can have markers and not have a baby with anomalies.

A woman' s age will affect the risk ratio.

It always has to be remembered that this is a SCREEN. There are no definites only maybes or probablies. The only way to know is by amniocentesis or CVS (sometimes if a CVS is performed an amnio may be needed as well).

It annoys the Toogoolawahs out of me when people say they have this for fun. This is not fun - this is a test and sometimes young women produce babies with abnormalities. Entering into a test like this without any forthought of what you will do with the information I think is not responsible.

It is more common (thought to do with egg quality) that older women produce babies with chromosomal variations but by no means is it confined to us old birds!
So, if your choice is to enter into this screening process think about what you will do with the information.

I certainly don't think that NT should be confined only to those couples that would choose to interrupt the pregnancy. Nor should it be - but just for a fun look at a baby then my personal & professional opinion is that it should not be done for those reasons.

The screen and if indicated amnio/cvs can prepare a woman & her family for a different picture of her child. This is helpful for some women - the jury is out on that one. Some women/men find it helpful some don't.
For example - I want to know what I can possibly know - so it would be important for me. I have been at births where a child was undiagnosed with T21 - and it was really shocking for the mother/s. It took away her joy. She, in hindsight had wished she had "found out" so she could prepare herself/intellectually and emotionally.

This test cannot be "right" or "wrong" - that is misinformation. If you make an INFORMED decision to enter into this screen then you need to be prepared for the next step FOR YOU.

Either decision is difficult & requires lots of support & information.

This test is quite good at picking up those babies that have anomalies - high risk rates occur in women without the baby having anomalies. However the number of babies that slip through and do have anomalies that were not detected are quite small.

A good point that Kate raised is that there are other issues that affect babies other than chromosomal ones. This test being low risk does not give you a certainty of a healthy child. It bothers me that we rely so very much on the science & we live in fear. Whilst I love the science I also would encourage women to accept that pregnancy & birth is the great unknown. Overwhelmingly usually all goes well - babies are born healthy & strong to well mothers. However there are no promises & nobody can give you one... It's like we want an insurance policy for healthy babes & there just is not one... Pregnancy, Birth & parenting reminds us everyday that we just have to trust & love...

[Arcadia]

Parenthood begins with the greatest unknown - the miracle of pregnancy - where a quiet little person grows into existence beyond the sight and reach of anyone else.

Science can really help us on this journey, but it can often turn amazing experiences (like seeing your baby on the screen) into an emotional nightmare.

You deserve to have a happy pregnancy, and only you can decide whether the test will help you on this journey.

Sometimes I think medical professionals treat screening tests too lightly, and don't understand the emotional weight of the decision involved for us. It opens up the road to a 'decision' many of us didn't know we had to make...

Its just one big learning curve...

[Frangipani]

Just thought I'd add my worth to:-

We had been TTC for 3 years when we got pregnant. We had the scan done, and we came back with a 1 in 141 chance of having downs. Apparently this was mainly based on the blood test (I still don't understand how my blood can determine what the baby would be), as the ultrasound man (can't remember what they call them) was only making positive comments at the scan, I was 27 also.

Anyway, once we got that result we were referred for a CVS, they called when I was I my way home (still crying) from the dr's, I was booked and ready to have the test the following week. I don't think I slept those few days, the risk - even though only 1 -2 %, to me was a big risk, as it's had been a long journey to finally be pregnant. 2 nights before the 'big day' I was sitting on the lounge looking at my belly and said what shall I do, I felt a little pop. At that moment I decided it was not worth the risk of losing it. I called and cancelled the procedure the next day. I felt like a weight was lifted off my shoulders.

At the growth scans at 20wks and we decided to do the 30weeks also, they looked for signs of downs (eg brightness in the bowel, short limbs, and a few other things they look at which I can't quite remember) and even then they were not able to say either way, especially as we had both those 2 signs evident in our scans. At this stage I was getting myself prepared for the worse.

As soon as our son Cameron was born I was looking for signs (after I looked at what gender he was)- but all I could see was this healthy, beautiful little boy... and it's has turned out he has not got downs syndrome. All that worry for nothing.

I'm in 2 minds whether I would do it again for hopefully round 2. At this stage, I think I would do the tests again, for a few reasons:- 1- to get a look at our baby, 2- as it also test for other abnormalities, 3- so i could prepare myself if we are high risk. But whatever the results though, I wouldn't do the CVS or Amnio and I most definately couldn't terminate. But at least I could prepare myself.

I also keep wondering about those results, as really they are only based on those who get tested, so would they be as high if 'everyone' got tested?

To me what helped is when I asked myself, would I terminate if it did have downs, my answer was no...i would love this child no matter what.

Good luck with your decision.

[satya]

Let me assure those of you who get this test just to have a look at bubs that your pleasant experience of seeing bubs turns very sour indeed when you actually get a bad result like I did.

Even before I got the combined result I knew that the NT measurement was not good. I was in floods of tears in the reception area while I was trying to pay for the test. I'd had to go alone as DF couldn't get off work. It was just awful. Everyone was looking at me - all those hopeful mums to be looking so worried about me - wondering what on earth I'd just been told. Not an experience I ever want to repeat. I cried in the carpark, I cried all the way back to work, I cried at work. Words cannot express how distressing it is to be told this kind of info. I never in a million years would've imagined I'd have such a strong reaction.

That's why I say if you aren't prepared for further testing don't do it as it's a VERY stressful thing to go through if you get a high risk. Then again, if you are faced with a result like mine you might just find you change your mind & get further testing to get some peace of mind.

[Tobily]

We declined this test with both of our babes.

Basically we decided that if we did come back with a result indicating high risk for downs, we would not be able to risk the pregnancy with an amnio. Especially when we would never have terminated even IF our baby had DS.

This is essentially what your doctor is getting at - the initial ultrasound just identifies your risk factor. To find out definitively whether or not your baby has it involves much more invasive testing. If you would decline that testing down the track, there is little point having an NT scan.

There is also quite a high incidence of mother's being told they are high risk and having amnios on normal pregnancies. This is why this test is said to have a high "false positive" rate.

GL and congratulations btw

[Maruschke]

This is essentially what your doctor is getting at - the initial ultrasound just identifies your risk factor. To find out definitively whether or not your baby has it involves much more invasive testing. If you would decline that testing down the track, there is little point having an NT scan.

I disagree with this part. Knowing the estimated risk is all that some women want. In this case the NT is informative.