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.
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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.