Should I get First Trimester Screening for down syndrome?

[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...

[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.

[Inanna]

Thanks for sharing Satya - you bring up very real & valid points...

[OceanPrincess]

Hear hear satya - those who go for this test should prepare themselves for all sorts of scenarios. Sharing a similar experience to satya (only thank God (literally) I had my DH and mum there to hold my hand and wipe away my tears) I will never again approach this scan as a chance to look at my baby.

That's what we went in there expecting and when it all went pear-shaped, I was completely dumbstruck. I am only 28 - I am supposed to be low risk. I was completely unprepared for the flood of emotions I felt.

I won't go into details (if you want them, check out my blog entries), but we chose to have the CVS and further scans/tests to find out what was wrong with our baby. Being told by a highly experienced and respected sonographer and then our Obs that "It is highly likely (9 out of 10 chance) that something is critically wrong with your baby" is heartbreaking.

I can't recall which poster said this - but I strongly agree with the comment that the amnio/CVS should be done by the most experienced Dr you can find. My Obs was delighted with our choice of Dr for the scan and she reinforced this after the CVS - she was thrilled he had done the procedure. At no time did I feel that my baby was in danger.

[Inanna]

Thankyou for sharing Ocean Princess - I know your time was difficult...

I just want to reiterate. You are consumers of the health care industry - choosing a practitioner you are hiring their expertise. It is imperative that you ask for stats when you are faced with invasive testing. Get ther very best you can - ask for opinions. I have had two amnios with "the best" and even though I knew there was a risk as there is for all invasive testing - I was comforted by his stats - and his reputation.

The same goes for having NT screening. I advise strongly that this is done in a fetal medicine unit. A sonographer will do the initial screen and the obs will come on board and recheck. You will get your results the same day.

[Ozziehoffy]

We decided against doing the scan because we weren't prepared to go through with any further testing. Whilst it is hard in the respect that it would've been so nice to see the baby before the 19 week scan, I believe (as those who have been through the not so nice experience) that it would be more stressful to have a bad result and then not want further testing and just spend the next 6 months stressing and not enjoying being pg.

[mum2mum2]

Thanks ladies
really, thank you all for your responses & sharing your experiences. Its definitely been helpful. Well, here's what I've been thinking-- I am not gonna get it done to merely experience the joy of seeing my baby I guess. Firstly b'coz I have seen it & heard the heartbeat already in the sixth week scan ( had to get it done as I was spotting a bit... I am ok now. Phew!)
Also this is my second pregnancy (my first one ended in a miscarriage at 9 weeks), so I am not overly exited .... I think I am a bit more scared this time around & hope everything goes well.
The fear of unknown is more daunting than anything else to me. So I think I might get the DS screening done. I don't know if I would go ahead with amnio or not at this stage in case I am high risk- I guess it depends on how big is the risk if its 1:200 I might not but if its 1:10 I might decide to get amnio. But atleast I will be prepared for the future- mentally & emotionally.
As all of you pointed out, at the end of the day it is a personal decision & one should go with their gut feeling- so true.
Thanks again Ladies- I will keep you posted.
God Bless:-))
Dipsy

[briggsy's girl]

good luck Dipsy.

i think having lost an angel baby it takes the "shine" off a pregnancy and just makes you want to know that all is ok.

[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...

[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.

[briggsy's girl]

ditto what oscaroscar said - i'll be happy with a risk factor - for some of us, absolutes aren't necessary. i will prepare for 'what if' if my results are high, but i don't need to KNOW for sure one way or the other....

[Inanna]

I agree Oscar - as I said above not everyone will have amnio/cvs - some just want to know if the liklihood is high or not. Also when faced with difficult results many women also change their mind on what their course of action will be. Women who previously thought they would have invasive testing decline and vice versa.

We all have it (or not!) for personal reasons - what I strongly and fervently know is that this is a test that can throw you a curve ball - having it for a photo opportunity should be actively discouraged... (IMO)