im 10 weeks pregnant and on thursday have to tell the doc whether i want to do the down syndrome test.
Can anyone shed some light on this? im not sure as i dont know much about it. Will it affect the baby?
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im 10 weeks pregnant and on thursday have to tell the doc whether i want to do the down syndrome test.
Can anyone shed some light on this? im not sure as i dont know much about it. Will it affect the baby?
hey there sakoon
The down syndrome test is a two part test.
Firstly at about 10 weeks they take a blood test from you. They also take blood from you at this stage to check your iron, anti-bodies for things like german measals, and also your blood group.
Then at your 12 week ultrasound they check the thickness of the skin on the back of your baby's neck. Anything under 3mm is great.
Both these results are they faxed through to the Murdoch Institute. They then combine both these results and give you a reading based on the blood results, u/sound and your age, what your risk for having a downs baby.
It does not harm the baby as they are done when you would usually have other testing. The choice is up to you if you do it or not- there is a charge for it. Around $70 for bloods on top of the bulk billing charge, and the u/sound clinics charge.
Its up to you if you do it or not.
good luck
odette
Thanks for the info Odette, exactly what i wanted
this is my first baby so i think i will have it done.
I had that blood test yesterday where they screen for diseases and everything. I have O negative blood which may mean i need to get shots if i bleed and before birth
Its my first bub too Sakoon and we decided to get the test done also even though we should be at low risk. It was just nice to have that piece of mind. It all came out great, so its one less thing to worry about, thats the way I see it anyway. Good luck.
Hi Sakoon,
I am having my nuchal fold test for downs on Monday. I will be 11wks and 4days. They are going to do the bloods and the scan on the same day. I am only 25 but want get it done just for the peace of mind like puppies said. I had my first bloods done for all the normal testing and levels of everything and I have O negative blood too. When is your duedate? I think we might be around the same time. Mine is 27th Feb (thank goodness its not a leap year next year)! Good luck with your pregnancy.
Hi Sakoon, I'm 13wks 4days & i had the two part downs screening also as i'm considered higher risk because i'm 38. It's non-invasive to you & bub & is worth having done. Ours was good news as i'm sure yours will be too. (will send you good vibes) There is only a small window of time apparently to have it done, i think it was between 11.5 & 13 wks if i remember correctly. Good luck with your pregnancy, hope to catch up with you again. I'm due on Feb 8th 2009.
i also had the downs scan done i am 25 this my 2nd pregnancy and baby fine it is just a piece of mind thing as puppies said and you get to see your baby :).Good luck but im sure you be fine
thanks so much, i told the dr i wanted it done. Will have it dont in the next week. thanks for all the advice, it really helped
Alibaby - You might want to check that the OB will do your scan then. I arrived for my NT at 11w 6d and had to go back again a few days later as my OB wouldn't do it until I was 12 weeks so might be worth checking that they will do the scan before that. The receptionist knew exactly how far along I was when it was booked and told me it didn't matter. It was quite annoying. I did get to have a sneak peak free scan done though so that was nice.
sakoon - the important thing to remember with this test is that it doesn't give you a diagnosis it just gives you a risk factor. For example I got a 1/37 risk of DS (mostly due to my age but also because of a high nuchal fold). This meant that of 37 women with the same risk factor 1 would have a DS bub. There's no way of telling from this testing if I would be the unlucky one or one of the lucky 36. Turns out I was one of the lucky ones as bubs was born without it. So basically even if you have a risk factor of something like 1/1500 you could still turn out to be that 1 person who has a DS baby even though the odds are against it. The only way you can have any certainty is to have an amnio or a CVS but normally they wont recommend it unless you get a high risk with the NT test. That's why some ladies don't bother with the NT test.
thanks for your replies. i will be 12 weeks pregnant on 17th August.
The receptionist says she has 18th August free for the test. Is that ok? or should i make it a bit later
Heya,
I was told the test could be done up to but not past 13 weeks + 6 days. We decided to have it done as it is not invasive however, one thing to think about is whether you would go onto the further testing (amnio) should the result come back high risk.
We were advised that there was no point in doing the first test if we would not be prepared to go on with the second, as the reason is so the parents can make an informed decision about the pregnancy, if the end results meant the baby could be born with Down Syndrome.
Best of luck I am sure it will be fine for you.
Nae x
Can everyone tell me how much they paid for the test?
i was told by my doctor it would be around $100 but when i rang up 'Sydney ultrasound for women' they said its $300
I have mine tomorrow but was told it would be $150 I think.
Crums, I forgot I'd have to shell out for Wednesday's ultrasound... :doh:
I had one done on Friday and it was over $300 but apparently if the scan is also to (double) check your dates, then there is a medicare rebate available. Not sure how much I'll get back yet.
Hi
I am almost 15weeks and been told our baby has trisomy 21. My NT was 4.8 and PAPP-A was .38, not good. I am 38. CVS confirmed 99% Trisomy 21. We now have a decision to make and I am very confused. By the way CVS is awful and painful. We wanted this baby so bad but have 6 others at home to consider (extended family), by the way they are all girls aged 16 down to 8. Our bub on the way is a boy. Can anyone give advice in same or similar situation.
:(
Tina welcome to Belly Belly and I am sorry it is in such difficult circumstances. :comfort:
I personally have not been faced with this decision but sadly there are women here on Belly Belly that have. I hope that they find your post and that they can offer you some support.
Finding out that your baby has a chromosomal issue is very very confronting - I can only imagine how your head is swimming and your emotions must be all over the place. There is much to think of and to consider.
I send you all my love and support as you go through this time. :hug:
Hi Tina
You must have so many thoughts running through your head at the moment. Have you been able to talk to a genetic counsellor? They are available through most Women's Hospitals. They can help with offering information and helping you and your partner decide what is right for you. If you want, they can let you know what it might be like to have a child with Down Syndrome and can put you in touch with parents of kids with DS.
Take care,
Kate
we have decided ot to have the test as we would not have the amnio done or anything else.praying all is ok and leaving it in gods hands.
hi its done through ultra sound. We chose to have it done but did not care what he out come was as it was made with love and would be loved eithor way. We felt if it came back bad we could prepare our selves and family before birth.
it did come back bad but god blessed me with a healthy boy. the blood test was where it came back bad not the measurements. yeah we stressed about the outcome of the test but then excepted it and prayed about it. As i said our little man is perfect nothing wrong with him like that
I'll have my Downs Syndrome test done in a few weeks.
My husband is worried about it already. He reckons that if there was a 1 in 100 chance of the baby having Downs Syndrome, he would want to abort it (not sure if he really would say that if it came out true, as we haven't gotten there yet, just what he said when we discussed it).
There is no way I would want to abort a baby that has a 99% chance of being fine. Or even a 90% chance of being fine.
Has anyone had this kind of disagreement with their partner, and how did you talk about it, or resolve it?
we had a result of 1 in 350 thats high chance yet our boy is fine
tina S - I am so sorry that you have come to belly belly in such circmstances - I cant offer any advice or words of wisdom, apart from suggesting a genetic counsellor as Kate mentioned. Try to be kind to yourself - whatever you decide, it has to be what is right for you and your family, not what is "right" to everyone else :hug: BB will support you no matter which way you go.
tenar - i think it would be quite silly to have abort the baby based on the NT scan alone - if your husband is sying a 1 in 100 chance based on the NT scan this is just too scarey - if it did come back high (fingers crossed it wont) have the CVS or the amnio done to confirm. Otherwise, with a 1 in 100 chance, there is a 99% chance that you are aborting a perfectly healthy little baby!
MY NT came back quite high - so we had the CVS - she is perfectly fine. :D Try not to focus on the NT scan too much, the chances really are very slim!
I know a girl who had 1 in 10 chance of downs based on the NT, but decided not to go ahead with the CVS or amnio - and what she now has is a downs free little girl. SO please dont let your DH convince you to have an abortion based on such low probability!
And dont be scared of the CVS if you do have a high NT risk - it is uncomfortable and yes it does hurt. But (if you pay a little extra) in 24 hours you will have the results and can then rest easy. It was 24 hours of hell for me, BBkept me sane in that time :dance:
How accurate is a CVS or an amnio? I thought they just come back with a more accurate probability of the baby having a problem, not an exact answer.
The cvs has a one in 10,000 chance of being wrong.
They actually take tissue from the plecenta and check all of the chromosomes.
All the NT scan does is measure the liqid at the back of the baby's neck, and combine this info with a blood test (your blood).
OK, that is reassuring.
Kitt3n, can I ask were there any other implications for you/your baby of the NT measurement?
Our baby measured an average of 6 across the nuchal fold and we've been told this pretty much means something is wrong. We've ruled out all the trisomies and chromosomal defects through CVS and are now waiting for a 16wk ultrasound to check for heart defects. Even if this is clear apparently it could still be something.
We've only got a 1 in 10 chance of a healthy baby. So disheartening to be faced with stats like that.
Tina, I have been where you are, sort of. We were faced with a 1 in 20 chance of DS. This has now been ruled out but as I said above our Obs is still saying we've only got a 1 in 10 chance of a healthy baby.
DH and I are stressed out of our minds - for us, the best way we are dealing with it is by talking to each other and trying to focus on the good. We're praying a lot and we have a lot of prayer warriors on our side, praying for the 1 in 10 chance of healthy baby.
I have no idea what we will do if the 16 week u/s finds something serious.
Oh and I agree, CVS is awful and painful. I hurt for a week afterwards... sneezing, bending, DH cuddling me too tight, everything hurt.
Big :hug: for you... wish I could help more. Feel free to PM me if you want to chat or anything... I definitely know the swag of emotions you are experiencing.
OP - so sorry to hear that you are going through this. There were no other complications for us.
1 in 10 is still very good odds though that everything will be ok. Such a scarey time for you, I wish they could give you clearer answers :hug:
I am feeling that it is really important to clarify some things -
Nuchal Translucency Test is an ultra sound combined with a blood test for "free bhcg" and PAPP-A. In babies with chromosomal abnormalities the hcg is within higher limits and the pappA is low. The nuchal fold measurement will be higher in most but not all babies with chromosomal abnormalities.
Nuchal Translucency is not right or wrong - you cannot get a positive or a negative. Itis inaccurate and misleading to think the test was wrong if you got a less favourable result. For example you may have a nuchal measurement of 4.7 combined with a hcg of 46 and a PappA of 3.6. This may give you a risk of 1:170. In many practices a risk of lower than 1:200 a woman may be advised to seek a cvs or amniocentesis. If the results (of the invasive testing) came back clear this does not mean the NT was incorrect - it means you fell within that 1:170 but thankfully all was well.
You will get a risk for age asessment that may look something like: 1:700 - meaning of 700 women with this result 1 will have a child with a chromosomal abnormality.
This test is NOT a "downs syndrome test". Trisomy 21 is coloquially known as "Down's Syndrome (after the doctor that named the disorder). Other Trisomies also manifest with enlarged nuchal fold and blood tests. There are many other chromosomal abnormalities beside Trisomy 21. Trisomy 21 is the most common.
CVS has a higher miscarriage rate than amnio - mainly because the test requires a small amount of the placenta to be snipped and tested. CVS can be done earlier than amnio.
OP: I am sorry that you are going through such a difficult time. :comfort:.
Enlarged Nuchal Fold can point to cardiac problems it's true - however sometimes it is enlarged and no reason can be found. I have seen this myself - even a very close friend of mine had this - her little boy is healthy and well.
I hope so much that this is the case for you and your little one. My thoughts and prayers are with you. :hug:
Another poster mentioned about the 1:100 and termination. No health professional in their wildest of deliriums would suggest a termnination on such a result. This is a SCREENING TEST. 99 babies out of 100 would be chromosomally sound. You need further support and counselling with regard to this. For example the risk asessment for a woman of 40 is around 1:59.
It must also be said that what to do with results is a very personal and sensitive issue. Some families after much thought and emotion choose to interrupt their pregnancies and others will continue. This is a very very difficult decision that only a couple can decide. Either decision is incredibly difficult and heart wrenching. :hug:
It was me talking about the 1:100 and possible termination thing, but it isn't my opinion at all. It is what my partner said when we discussed it. I was a bit horrified that he even thinks that, but I also understand that he is basically scared stuff about the baby, and the thought of having a child who isn't "normal" (as if there was such a thing as a perfectly normal person anyway), terrifies him so much that he doesn't want to risk it at all.
I guess I have the following thoughts:
1. My husband will hopefully get more used to the idea that having kids means having worries about them as we progress through this pregnancy. We both want kids, but I'm the one who has thought about it all my life, whereas he hasn't until recently, so I think that he's sorting through some of the implications at the moment.
2. I will hope that when I get my 12-week test done the results come out with a low risk factor for my age. If they do not, we'll get more testing done and wait and see, and talk a lot about it.
3. There is no way I would terminate a baby with a 99% chance of being healthy. Not a chance! However if, and with all the available testing, the probability was very much lower than that I realise that I might find myself having to choose between loyalty and commitment to my husband (and the future children we will have) and loyalty and commitment to my current unborn child. Not a choice I want to have to make. If it happens we will deal with it as best we can.
OP: my thoughts are with you, your partner and your baby. I hope everything turns out just fine for you all.
This comment is kinda in relation to the previous post.
I wonder if the increased acceptance and use of prenatal screening/testing leads to the greater perception of disability/illness being completely controllable and preventable. When conditions are not detected, it can lead to greater distress because parents might believe that they have done all the right things, had all the screens etc but still this thing has happened to their child/family.
Here is a story to show that no matter what tests/scans are done, sometimes stuff just happens and can't be controlled: A close friend had a genetic/chromosomal condition which her baby had a 50% chance of inheriting. After much thought, she decided to have an amnio to test for the condition in her baby. The results came back as the baby NOT having inheriting the condition. By the time results came back, the mother had decided that the results would not influence her actions, but she was nevertheless pleased at the results.
During the baby's birth, the baby became distressed and (long story short) was born not breathing with the cord around her neck. Resuscitation was performed and the baby was put on life support. Baby spent a week on life support. Seizures occurred over the first 2 days. Life support was removed, and the family was advised that they didn't think baby would survive. Now, the baby had different ideas and is now doing pretty good. Baby has cerebral palsy, but is feeding, breathing, crawling (exceeding early predictions), on her way to walking and is just gorgeous.
The point of this story is just to say that prenatal screening only focusses on certain conditions, and there are other conditions/occurrences that can't be detected. As a parent, you can't 'protect' your child/family from all disabilities/illnesses. These things are part of life, and although you might not choose to have them occur, the way you choose to respond is up to you.
Having kids is a risky business, you might get lucky and get a healthy one who sleeps through the night, is a 'perfect' child, gets straight A's and will care for you when you are old. However, there are lots of points at which this can story can differ, and in the scheme of it the conditions picked up in newborn screening are only minor issues.
I had a 1/97 reading ... in which my young GP handled it terribly ... making me feel like I actually was carrying a Downs baby then not :(
It was one of the worst days of my life & it was so uncalled for as it could have been handled with in a different manner.
I went ahead with a CVS test soon after (keeping in mind this was my 1st pregnancy to get this far at 39 yrs of age) and it turned out my baby was SUPER FINE :dance:
Though not sure if I'd go through with a CVS test again (I think a lot of older Mothers feel somewhat pressured to ... well, that's how my GP made me feel. And to think a CVS test can create a m/c ... 1 in 100 chance of happening) !!!!
My daughter is now 2 & she is a very bright & beautiful & healthy girl :hug:
Tenar does your DP realise you would never be OFFERED a termination for a 1:100 chance of Down's or any other chromasomal disorder? The option isn't presented like that.
You would have the N/T, then based on that result (which might be high or medium or low) they would offer you CVS or amniocentesis. From THOSE results they would tell you if your baby had chromasomal disorders or not and then and ONLY then would termination be offered as a possibility, IF the baby had a chromasomal problem. Based only on NT results you would have to go to the doctor and have a termination for social resons (i.e. don't want the baby). Any doctor, even if you had a VERY high risk factor on the NT, would counsel against termination on those results, the NT is NOT a diagnostic test, it screens for risk factor only.
I do know of a woman who had terrible CVS results and decided against medical advice to continue (they wanted to wait for the amnio, but decided not to have it due to the miscarriage risk, then wanted to wait for the 20 week scan which was only a few weeks away anyway, and everything looked surprisingly ok so they went on) the pregnancy and had a completely healthy girl. The placenta is formed from the father's RNA (Ryn please come in here and correct me!) and is closely linked to the baby but NOT the same as the baby's DNA. You CAN get a baby with a chromasomally damaged placenta/cord who is healthy.
Bx
The placenta is formed from cells of the zygote (the product from where the egg and sperm meet). As the cells divide and multiply, some cells go to produce the placenta and some cells go to make the baby.:
So, the cells in placenta are like really early baby cells. They can be identical to the baby but little changes can occur in the placenta cells that do not happen to the cells in the baby.
CVS takes a sample of cells from the placenta, and examines the chromosomes etc. It is possible, but rare, for a CVS to find cells in the placenta that show trisomy 21 (or another condition) that is not present in the baby.
Depending on the number of cells found with the condition and the condition that is found (e.g. trisomy 1 would not result in a live baby so they can tell that this would only be in the placenta), they might reccomend an amnio to check whether the baby also has the condition.
Amnio looks at cells in the fluid that have come from the baby, and are therefore a better representation of the cells that are present in the baby.
Well said :clap::
Thank you all for your thoughts and esp Flowerchild for your kind words and prayers. We have many many prayer warriors on our case right now and I am confident God will answer our prayers.
I think it will be interesting for us (DH and me) when we decide to have bubs #2, if we decide to have the screening. We probably will... I'm a person who'd much rather know than be in the dark.
But as Flowerchild said - it is a very personal decision. It is very difficult for people to comment who have not been there themselves.
We have fallen pregnant naturally and are 8 and half weeks pregnant, after ttc for 18 months and nearly taking the IVF route.
DH has a genetic condition called, Y-chromosome deletion which only affects sperm count, and will only be passed onto a son. my question is will this come up on the downs testing.
i'm not sure if when the results come back are they seperated into categories such as % rate for downs, % rate for other chromosomal problems.
we're not at all concerned about this being passed onto our son if we have one, but could other chromosomal problems give the percentage rate a higher chance of coming back high. it would be awful to have to go through further testing and find it was only this that was making it high.
i'm not sure who to ask this question cause my gp wasn't really helpful and we're not seeing our FS anymore.
anyway this may not even show on the results but was just worrying if it made a difference if anyone knows.
i am 28 and this is our first child so am a little scared, but hoping it's all fine.
Welcome to Belly Belly Beau9 and congratulations on your pregnancy.
The NT test does give a percentage rate for trisomy 21 and most centres give a percentage for 2 other trisomies that are less common.
I am aware of the condition your husband has - this will not affect your NT test.
Basically the NT test is a blood test (free bhcg and PappA) combined with measurement of the nuchal fold and other soft markers.
Wishing you well with your pregnancy. :hug:
Hi Beau
The first trimester screen looks at a couple of enzymes in the mum's blood and a measurement of the skin behind the baby's neck. One of the Mods (Flowerchild) wrote a good description earlier in this thread.
The results give a risk figure (e.g. 1 in 450) for trisomy 21 and a risk figure for trisomy 13/18.
I don't think that a y-chromosome deletion would show up on these tests. The Y-chromosome is quite small, and a deletion that has minimal effects is probably pretty small. The first trimester screen is picking up when there is a complete extra chromosome.
If you wanted to more information, you could ask to speak to a genetic counsellor. Most women's hospitals have a genetics unit and you should be able to get an appointment by ringing up.
take care,
kate
thank-you flowerchild and kate.
i'm glad i'm having the tests now, my mind is at ease and i'm sure they'll come back fine.