First Trimester Downs Syndrome Testing

[kiki]

I didn't notice this section existed, so I have also posted this in the pregnancy health concerns section.....here goes:

I have been going to the hospital for antenatal since I was 6 weeks (am now 11 weeks) because they wanted to keep a close eye on my pregnancy as I am insulin depenant diabetic, and so I stopped seeing my GP for a while. The other day I had to go to the GP for something else, and by chance she mentioned I should have an ultrasound to check the risk of Downs syndrome for the baby.

I explained to her that at 14 weeks I will be going back to antenatal and that I could probably have it done there. She said however that this particular test must be done now (or next week) and now I am completely confused. I know I am in a higher risk category for downs because I am nearly 34 and will be near 35 at EDD, but I thought they would do these same tests at the hospital.

I called in at the hospital yesterday and enquired about it, they also agreed that they don't offer this particular test which must be done earlier, and the midwife said she could not say whether she thinks I should have it done (go figure!). I have already had 2 scans and will probably end up having a few more like with my girls, so I don't want to have this one unless there is a real reason. I know I have to have a bloodtest as well, and I believe the results will only show whether I am in a low or high risk category, not whether the child will be likely to have Downs Syndrome. Can anyone help me with any info on this test compared to the normal ones they have at the public hospital?

[cosmic]

Hi Kiki,

It's strange that your midwives didn't mention it to you. My understanding is that it has to be done between weeks 11 - 13 and it is called a Nuchal something (nuchal trans-something..?). Basically it is a scan, but they measure the skin thickness of the baby's neck because this is an indicator of Downs. If the test comes back and says you are in the high risk category (unlikely of course), you then have options for further tests - such as an amniocentesis (excuse my spelling..) where they insert a big needle and take some fluid from the placenta. That one is a scary one because there is a very small chance that the needle could cause miscarriage - highly dependent on the skill of the operator so if at any time EVER in the future you need to get it done, be warned!! Be sure to ask about the history and track record of the doc doing it.. though hopefully neither of us will ever need to have it done! ;)

Basically because the scan only shows a broad 'high' or 'low' risk category, if you do get a 'high' risk result, you need to weigh up whether you risk damaging what might very well be a healthy pregnancy by having the amnio... but we're getting ahead of ourselves! Back to your scan question...

When I first booked into the birth centre where I will be having my bub (I'm 9.5wks), the midwife gave me a referral to the clinic where they do it - just in case I want to get it done. It is completely optional and quite expensive. I think it is $250 with $90 back from medicare where I am getting it done. In my case, it certainly is a different place from where they do the hospital ultrasounds.

If you want to have it done, I'm sure you can still get a referral and get in before your cut off date. I'm not sure they have long waiting lists or anything. You just need to find out where they do it.

Hope that helps. And wishing you a happy, healthy pregnancy! :)

Cosmic.

[H&B'sMum]

It's called a nuchal Fold scan or Nuchal translucentency scan. It's an unltrasound and before hand you have a blood test done. I just thought of it as seeing my baby for the first time and thought it wouldn't hurt. They do measure the thickness of the skin behind the neck and this gives an indication of if the baby is a high or low risk of having downs.
I had mine through my Ante-natal clinic at the hospital and got bulked billed for it.
Good luck

[kiki]

Hi, I am not totally sure yet (got until early next week to cancel the scan), but am feeling like we won't get it done. If Id have had no scans yet I probably wouldn't be able to resist seeing bubs, but I think Ill be patient and wait for the 18 week scan. I just don't think we'd go through with further tests and risks the pregnancy if I fall into high category anyway, so there seems no point as false positives seem quite common with this initial test. Also, to be honest we don't really have $100 lying around at the moment which is what the scan will cost me after the medicare rebate as this one has to be done at the private hospital. Anyway, Ill keep this shocking pregnancy headache Ive woken up with this morning going strong by mulling over this some more :(

[cosmic]

Hey Kiki... bummer about the headache. :o

It's really a personal choice. I think as some others have said, sometimes it is as much about preparing yourself and your family for a special needs child as much as it is about whether to keep it or not. I'm not sure false positives are incredibly high - but you're right, that is a scary thought. It is one that concerns me too. What also concerns me is that if the test showed the worst, I would keep a child regardless - but my DH has other ideas. It's something we never agreed on so I pray we are never in the position to have to discuss it further!

Good luck whatever you decide. Even at 34, I think the risk is very low. (I'm 33 so I'm in the same boat as you).

[JanetF]

Prenatal testing is a difficult question. I chose to not be tested because I didn't think at 34 my risk was enough and the risk of a false positive seemed higher to me than the unlikely scenario of me having a baby with Down Syndrome. I have read that very young mothers (ie under 20) or older mothers (over 40) are the groups with higher incidences of it occurring. It's a hard decision to make and I wish you well with it. Try these for some more info. Good luck!

Prenatal testing for Down Syndrome – 3 methods.
http://www.nichd.nih.gov/publicatio...wn.htm#Prenatal

Maternal age and likelihood of Down Syndrome.
http://www.nichd.nih.gov/publicatio...m#TheOccurrence

Picture Perfect:The Politics of Prenatal Testing
http://www.firstthings.com/ftissues...es/kristol.html

[aardvark]

I had baby #2 at age 34. I asked my doctor about the prenatal testing, and he said he would not bother at that age.

Same doctor with me pregnant at age 39, and he was pretty insistant I have invasive testing, not just the Nuchal Translucency and blood screening - and so was I.

One thing to consider about pre-natal testing, is that would you act upon a +ve result? If you are quite sure that you would not terminate, and that you would carry the baby to term anyway, is there really a lot of point in having invasive testing like a CVS or a Amnio?

And as someone who has had an amnio, I can assure you, it's not a "big needle", it's very fine indeed, just damn long. It's more uncomfortable than painful, and the worst bit by far is waiting for the results. If you have one done, you need to be quite determined to rest for 48 hours afterwards - and actually make sure you do. Someone I know lost twins after an amnio because she did heavy lifting almost straight afterwards.

[HoopDeeDoo]

I had the 12 week scan with my first baby, mainly because I had had some spotting early on and had to have an ultrasound at 6 weeks.
I've just found out that I'm pregnant, and thinking I won't bother for the second, mainly becuase of the money. If it was free I would do it just to see my baby for the first time!
Because like you I don't think I would continue with the pregnancy even if we were in the high risk category. I guess though it's a heads up to plan adead :rolleyes:

[Briannabear]

I was curious to read those links JanetF but they didnt work :(

[kiki]

I posted this thread originally in the pregnancy health section (the one above this one) and JanetF also replied to that one, and the links work fine. Thanks by the way- got me thinking about why there is such a push for some pregnancy testing. :)

[TobyMsmum]

My nuchal fold + blood test results came back as doubling my risk of a Down Syndrome baby (I am 30), my doctor wasn't worried but we were, so we had the amnio, it was fine, I agree with the other post about resting, I did for 4 days. The relief when the negative results came back was immense & meant I could enjoy the rest of the pregnancy knowing bubs was ok, my friend had a similar experience but opted for no test & stressed out for the rest of her pregnancy. Is knowing or not knowing worse for you? Guess it's an individual thing, but read up on everything so you are fully informed & ask lots of questions of your midwife/ob.

[kiki]

Hi TobyMsmum, Good to hear your baby was healthy when born. If you don't mind me asking- does your friends baby have downs syndrome? Youre right I suppose about either getting the test done or worrying. I have decided to get the scan done after all, I cant seem to help myself. My hubby hasnt "met" bubs yet and so I found it too hard to resist. If the result puts me in a high risk thingy we're just not sure yet what we'll do about further testing :(

[the_queen]

Our Princess was born with a bilateral cleft lip, which was detected at the 18 week ultrasound. Because a cleft lip can be an indicator of further chromosomal abnormalities, we decided to have an amnio. Mostly just to ease my anxiety, because as we all know, an anxious mummy means an anxious bubby. Our amnio results came back fine, no further problems, so that was a relief. I wrote in my pregnancy diary at the time "now we can just focus on the cranio-facial stuff". If I hadn't had the amnio, I would have been stressing for the rest of the pregnancy about whether there was more problems or not.

I think that there is a real need for these kinds of tests in pregnancy. Regardless of whether or not you'd keep the baby anyway, think about it like this: Imagine having just given birth to your baby, and looking at it for the first time, only to see that it has a birth defect. If you were pre-warned about it, and were prepared for what it would be like, then your shock would be lessened. There would be less grief, less emotions about "why did this happen" or "how do we fix this" because all that has been dealt with during the pregnancy. Beleive me, the fact that I knew our baby would have an abnormality, meant that I barely even noticed it when she was born. I saw it, of course, I noticed it, I looked at it, but because I'd already known about it, it didn't bother me. We already knew what surgeries etc were needed, and when, so the only emotions in that delivery room were love, love and more love.

Just my opinion. I know lots of people won't agree with me. But with this baby (I'm 10 weeks pregnant now) I will be having pretty much every test available. Mostly to ease my anxiety, but also just in case there is a problem, just so I'm prepared for it.

Dentists just used to just rip people's teeth out when there was pain. Now they have X-rays so they can know more about what they're doing, and be more precise in their diagnosis. Isn't it kinda the same thing?

[aprilbaby]

Hi all,

This is my first posting and it's interesting I stumbled upon this one as we had our NT scan today.

I was also conflicted as to whether or not to have it, and was pretty sure I wouldn't until my husband decided he wanted to go ahead with it the day before. Now, after having it done I still don't feel convinced either way. Of course it was wonderful to see baby, but seeing as I had a scan at the Obgyn just days ago it was definitely an expensive way to see bubs again! It was also comforting to know everything was ok, but as i'm only 27 I was pretty sure it was to start with. Like the other postings have said, it is only a guide, and all they can tell you is your chances ei. 1 in 4000 etc.

The thing is, if we were in the high risk I don't think I would have had the other tests anyway, so really is there a point in doing it? We have friends who were in the high risk, so they had the futher tests only to be told everything was fine. But the trauma they went through in the meantime was something you wouldn't wish on anyone.

I guess it depends on whether you're someone who likes to be in control and be prepared or whether you would rather deal with things when they happen. For me , if I knew there was something wrong I would still have the baby, but would probably end up having a very sad and stressful pregnancy worrying about it - and that stress is not good for the baby. On the other hand, if the baby was born with a problem we would se so happy and in love we would deal with it then. But everyone is different and you have to do what feels right for you.

So, my conclusion is, in the end it was wonderful to see that baby is healthy and we certainly didn't lose anything in doing it - except our money, which seems to be flying out the doow these days anyway!!

Good luck Kiki, hope it's all positive.

[Miaow]

Cause im 40 the GP i saw when i got the home test confirmed booked me in for the maternal serum scan and ultrasound at the time i saw him. The tests came back that i had an axprox maternal age of about 31 result wise and my Ob said there was no real reason for any invasive testing unless i had a chance less than 1:250 - mine was about 1:425 if i remeber.

All was and has been ok since with U/S and no abnormalities have been picked up which im very grateful for:)

Im not so sure i would have had any invasive testing anyway if it was suggested (unless there was a very high chance of problems) more cause of the damage that can occur to the baby ...

[kiki]

Well, I ended up having the blood test and the scan, and as it turns out, the nuchal fold was only 1.5mm, which is totally in the normal range. The blood test also came back as lowering the risk of downs syndrome, and the chances went down even more. I still don't think I would personally go on with the amnio tests etc as I have heard of enough false positives to convince me that I would rather not risk bubs for the tests, but I completely understand if someone chose this option to know where they stand and I suppose to decide what to do.

The thing is- how do you ever really know whats going to happen? Healthy children or babies can also develop conditions which can be terrible, or perhaps have an accident of some kind- you can really only hope it never happens to your own or anyone close to you. People with Downs syndrome are generally very affectionate, friendly people, and many grow up to lead quite independent lives. Thanks for all your comments people, I really appreciate it! :)

[JanetF]

I'm glad you're feeling reassured by your result. All on track for a beautiful birth now! :D

[Lunar]

Hi there. I'm a new member and was just browsing the threads when I came across this one and thought Id have a look.
I am a mother to Emily 3.5yo and Bit, (EDD 1/3/06)
I was only 19 when I fell pregnant with Emily and she also happens to have Down Syndrome. At my 18 wk scan it showed that the ventricles in her brain were swollen and the fluid wasn't draining away into the spine as it should. This was of concern to alot of doctors some were saying it could be this or it could be that, no one knew why it was happening and some doctors were trying to convince me to have an amniocentesis (where they take amniotic fluid via a long needle from the whomb, hence the name...they DON"T take it from the placenta that is CVS and done earlier in pregnancy.) I ended up giving in as all the doctors were confusing me with statistics of miscarriage and actually found a very skilled doctor who said the risk was around 0.5%. So I ended up having the test. The results were positive, my little baby girl had Down Syndrome. When my obgyn told me the news he was very rude, misleading and basically had no caompassion what soever. He had organised for me to have an abortion and shoved me out the door!
Obviously I didn't go through with his plans for termination. My daughter is pretty healthy and achaived nearly all her milestones on time, and even before some other babies (yes ones WITHOUT special needs). I am very proud to have her as my daughter and everyone who knows her just falls in love with her.
I only had the nuchal translucency and combined blood test this time round, and results are low risk, 1 in 4,560. It is a VERY BIG MYTH that only older women give birth to babies with Down Syndrome and a FACT that the magority of babies born with Down Syndrome are born to mothers UNDER 35, as 35 and under seems to be the majority of women having children. Of course there is SPECULATION but NOT PROVEN that women around 40 and older are at a higher risk, this being believed because of the age of the women's eggs, but nothing is proven. I know quite a few parents with children who have Down Syndrome and they were all under or Just over 30 when they concieved. There is no proof which parent the extra chromosome, it just happens. I continued my 1st pregnancy with the notion "If she wasn't meant to be born into this world, then I would have lost her already. This baby must be the start of something great."
And sure enough she was. She changed my whole life and for the better. I now see the world from a different view, a different light..... and it's BEAUTIFUL!!!
Don't be frightened to test if that is what you want, but give nature a chance, arm yourself with all the knowledge you can. What is meant to be, is meant to be.
Just thought I'd add my 2 bits, (I know its more like 200) and if anyone has any questions they can feel free to ask me anything, I'd mush prefer people ask then just presume and stereotype...that's not good ;) )
Kristin, mum to Emily 3.5 and Bit (due in 15 wks.)


*An extra little chromosome that's all it is, you see. Where all of you were born with 2, my angel was blessed with 3.*

[Manxie]

An extra little chromosome that's all it is, you see. Where all of you were born with 2, my angel was blessed with 3.*


EmysMum-Thast just beautiful :D

All the best and thank you for your lovely post

[xkwzit]

Hi EmysMum
I just like to say that I loved your post and it's great to hear 200 cents from someone who has actually been there. Thanks for helping me to understand a bit more.

Cheers

[HoopDeeDoo]

Well I've booked in for my 12 week scan, I couldn't help myself :) I can't wait till 18 weeks to see bub, my husband wanted to do it too. And it's not at all for the DS test it's an expensive way to my our baby ;)

[Mother Duck]

Hi Emy's Mum - that was 200cnets well worth reading!

It is through people like yourself that those of us new to the concept/potential of a down's bubba can learn.

A very interesting thread!

[aardvark]

My 2cents worth.

About 30 minutes before I was due at the US place for my amniocentesis, I was at the shopping centre.

There was an 80+ year old woman there, trying to wrangle her 40ish year old Down's son and a shopping trolley.

Up till that point, I was wondering if I was making the right choice having the test, with a view to terminating if there was an abnormalilty. Any doubts I had were swept away seeing the elderly woman trying to manage her son, and I knew I was making the right decision to have the testing, and to act upon an abnormal result if it came about.

[Lunar]

Dear aardvark,
Firstly I would like to say to you that a lot has changed in the last 20 years in the ways of intervention and help for people with a disabilty. The gentleman and his mother more than likely grew up aound the time where if you had a child with Down Syndrome you were to hide them away from the world. There was no physio therapy, occupasional therapy, speeck therapy or any of the things that are available to our children today! I also like to live by the motto "Whats meant to be is simply meant to be" And that if my little girl was to have Down Syndrome then so beit. Nothing in this world is perfect and to say that you would act on the result of your test if the results where positive for DS is very sad, a personal decision but sad. Peolpe always say to me I don't know how you did it, yo make the decision to keep your baby after finding out. I ALWAYS put it to them like this.. "If your child was born healthy and then was in a car accident at age 5 or 10 or whatever, and then was left disabled as a result, would you just give up on your child and say I can't handle that, I don't want to be his/her mother and then give them up for adoption?"
Think about it???
Kris.


*An extra little chromosome that's all it is, you see. Where all of you were born with 2, my angel was born with 3.*

[the_queen]

Well said Kris.

When we found out at our 18 week ultrasound that our baby had a bilateril cleft lip, we had an amnio because they said the cleft could be part of a bigger problem. We had absolutely no intention of terminating - because like Emysmum said, what's meant to be is simply meant to be. And I beleive that God doesn't give us more than we can deal with. I thought that I couldn't cope with watching my baby get stared at, having to support her through surgeries (her first at 14 weeks old), her getting teased at school, etc etc. But I came to realise that obviously I'm stronger than I thought I was. And she has taught me alot about strength, courage and resilience.

Some people can be really insensitive though. My mum is mentally ill, and my dad thought it would be "better" if we didn't tell her about the baby until it was born (yeah thanks dad, way to support me!!!) so I rang one of my "best friends" to talk to her about it. Well, she advised me to really consider a termination. Even if it's only a cleft lip. Because (and i quote) "what a horrible life for a little girl to go around with scars on her face". :mad: She isn't my friend anymore.

[aprilbaby]

Hi The Queen,

What a disgusting reminder of what a shallow society we live in, that someone would even consider terminating a life because of a minor physical deformity. I am sorry for you that you even had to hear that. I'm sure your daughter has gifts she brings to the world that make it a better place.

And to Kris, thanks for your beautiful posts and for putting in perspective what it is like to have a child with Downs. Before my NT scan my husband and I decided if our baby had Downs it would be for a reason and that we were obviously chosen to experience bringing up a child who was more special than most. Anyone who has come into contact with someone with Downs knows how beautiful and loving they are, and couldn't the world do with more of that?!

Good luck to both of you and your precious children. xx

[tickle]

I believe that all people in society are important and no one person is better than another for any reason.
In my experience with downs children, through work, they are so great!! They are the most loving people on earth and have such a character about them. I love to see their beautiful smiles, it's enough to make your heart melt!!! :)

[Lunar]

Dearest Queen, THANKYOU!!!!!!
I was begining to think I was alone in my battle! The world needs more people in the world like us I say! ;) When I hear people say things like that it makes me so mad, what gives them the right to tell you what they think YOU should do. And a cleft pallet is something that can be corrected and with medical advancements minimal scaring. Surely it's not the END OF THE WORLD if some one else is going to think your child is less than perfect! As long as you know you love your child, What more can they ask for than all the love in your heart. I think us mothers fall in love with our children way before birth, and to turn around and say, "Well in some people's eyes you're going to be less than perfect so, goodbye." Well that just shoes that unconditional love does not exist in that persons heart, and I feel that ALL mothers should have this. We ARE only given what we can handle. Oh and by the way, there are other disabilties out there that are actually alot wosre than Downs, that could happen to ANYBODY, I feel very lucky that my little girl only has Down Syndrome, she can,eat, walk, run, talk, she will go to school, have a job when she groes up, and SHE WILL have a fulfilling life and a place in society. It's ignorant people in society that make it that much harder for people with disabilties to just FIT IN and be another face in the crowd like you and I.
Soryy to any body who thinks I'm being rude but try and see it from the other side for a moment.
Kris mum to Emily 3.5 yrs and Bit (EDD 1/3/06)


*An extra little chromosome that's all it is, you see. Where all of you were born with 2, my angel was born with 3.*

[the_queen]

Emysmum - you're so welcome! :)
Aprilbaby - thank you for your kind words, you're right this is a shallow society we live in, and the hardest thing for me is trying to explain that to Vallerie.

And you're absolutely right Kris, there's so many worse things that could have affected our little cherubs. When Vallerie had her first surgery, I was an absolute wreck, thinking "how will I cope seeing my 14 week old baby taken away to surgery, how will I be able to sit and wait for them to come back with her, how can I deal with all of this" and then we saw a little baby, younger than Vally, who was dying of cancer. And I realised that I had no reason to cry. The next surgery she had, at 11 months old, there was another little baby having cleft repair surgery. But his cleft was part of a bigger problem, he had brain damage, a lot of deformed bones in his face, one ear missing, and fingers missing. But his smile! It lit up the room!!

All life is precious. Some lives are shorter than others, some lives have different challenges, but ALL life is precious. I believe that our children are sent to us, to teach us about ourselves. I have learnt that other people's opinions aren't important, and that being a good person is more important than looking conventionally "beautiful" (whatever "beautiful" is).

[JellyBean06]

My Hubby and I are going for every test and we decided long ago that if there is any major problems we will terminate. We are realistic in the fact that we wouldn't be able to give the type of support needed. Trisomy 21 isn't the issue, it's the unknown severity of diseases that cause the problem. My sister (now 23) is a result of chemical effects on my Dad's sperm from his work. It happened after I was born so I wasn't affected - but 5 kids from that work in the same year ended up with everything from Down's, Cerebal Palsy, BiPolar, complete internal organ failure and disfigurement. All the children were kept. So was the heartache that followed.

My sister is on a Disability Pension and although she worked (she lost her job yesterday due to closure), she finds it extremely hard to find work and my Dad will not let her work in places like Bedford Industries (we have always believed in social integration). She can't count, can't understand money, contracts or anything that requires agreement or agrument (like lay by). She has outbursts which are violent (bashing my Dad with a steal bar and giving me a black eye). She cannot comprehend the 'grey' between right and wrong. Everything is her way or no way.

She is on medication and sees a Psychiatrist. She is about to get married and loves to work. But it is foolish to believe that kids are cute forever. My parents will be looking after my sister until the day they die. There is no support for marginal disabilities and the mental health system is pathetic. All people are beautiful but every family has to be fully aware of everything they could possibly be facing and for some that awareness will lead them to terminate because it fits them best.

[Lunar]

JellyBean
Firstly there is no 'cause' of Down Syndrome and there are certainly no diseases that cause it or are assosiated with it. It just happens. Down Syndrome (DS) is the most common form of intellectual disability world wide. My DD has ds and she WILL have a job and she will be able to count and do everything else she needs to do in life to get her by. She already knows how to count to 5, and she acheived all her milestones around the right time. I think that alot of people are just AFRAID of the UNKNOWN. People think ds is such a terrible thing when in actual fact it isn't. There are planty of disibilities that are far worse than ds and are not picked up before birth as there are no tests for them. A baby with a disibility can be born to ANYONE and if you want a baby badly and God gives you one then you decide that the baby isn't 'perfect' and reject that life..... who knows it might have been your only chance...... how would you feel? I once read about a woman in that exact situation and she has regreted it.
I know that it's a personal decision and everyone is entitled to it but all I ask is that you do your research first and talk to other parents of YOUNG children first. A lot has changed over the years and the future is brighter for people with a disibility.
Don't just see different, see LIFE! See a PERSON, see PART OF YOU.
Don't listen to the Doctors if you get a positive result for anything, seek out PARENTS who have been there and who are living it they are the ones who will HELP you not just tell you all the negatives (some of which are so far from the truth!)

If ANYONE has any questions for me they are more than welcome to PM me I'd be more than happy to help.