High Down´s Syndrome risk in triple test, so scared about amniocenteisi result

[Heather1977]

Hi, Last week I received my blood test result for the triple test and I got a very high one in 15. I have to go for amniocentesis in 2 weeks and I am really scared. I´m 31 so age isn´t really a factor, but the doctor explained that the high risk could be caused by lots of other things.
They did a scan and could see no abnormalities, as apparently 50% of DS babies have obvious deformities.
But I´m still so upset, crying every day and not wanting to talk to anyone about being pregnant.
Anyone been through something similar? Could do with some moral support!
H

Ceelo, it's sad that you felt bad about the responses on your thread, however, eidsvold and others speak from the reality of parenting a child with SN.

My little boy has a syndrome not too dissimilar to downs but with no relevant soft markers or anything that showed up on the triple test. It happens! He is also lovely, adorable and actually quite bright.

How I would have felt about it had I known ante-natally I really don't know. I do know that I would have benefited from others experiences though.

Heather, I am so sorry you are going through this, and I truly hope the results are all okay. Please do not feel that anybody wants you to feel bad about your feelings, they are your feelings and you are quite entitled to them! We are merely posting from a different perspective. Take care and I hope you had a peaceful weekend.

Dear all,
Many thanks for all your messages. I have enjoyed reading all the great stories and points of view. We have thought a lot about what we do with the results, but will wait until we atually know for sure.
Did anyone who got a high score on the triple test, and then a negative for DS after amnio, ever find out why they got a high triple test score??

I had 1 in 18 chance and a negative result on CVS test.

They said it could also indicate a small-for-date baby. But I just had my 20w scan and the baby is large-for-date!

They now want to do a doppler scan because of blood tests, so you may get this too later. The doppler scan looks at blood flow to the baby.

I don't really understand exactly what they are looking for though, because surely if the blood flow was restricted, then the baby would be small, but mine is big! I'm going to ask the midwife to explain when I next see her and I'll let you know if I learn anything useful.

I would also be very keen to know if the blood results can indicate anything other than downs, and/or why some people get a high score.

Does anyone know?

I appreciate people have children with special needs and those children are no less of a joy than other children. This woman asked for moral support and that is all I tried to offer.

As for the trip test giving false positives I can tell you this:
The test is designed to catch all potential cases of t-21,t-18, t-16, etc. Studies (see Kettering and Bart) conducted over several years found there to be certain factors present in women who gave birth to effected babies. The test measures AFP (protein produced by the fetus), hCG (protein produced in the placenta) and estriol which is an estrogen produced by the fetus and the placenta. What the test does is compare the amount of these "indicators" present in each woman's blood and gives a number based on multiples of the mean. If a woman is more than one multiple of the mean away in any category, it will indicate an increased risk. The studies have shown that low AFP and estriol combined with high hCG is associated with trisomy-21, low levels of all three is associated with trisomy-18, and high levels of all three is associated with neural tube defects.When all of the results are added together and compared to the database one is assigned a number that expresses how likely these variables are to be indicative of t-21,t-18, t-16 etc. What the test is not is a determinant for these conditions. It is designed to be overly sensitive so that people in higher risk groups will have an opportunity to prepare for any special care and/or training they will need. The risk factor is effected by age, number of fetuses, diabetes, etc. So results may be off if the gestational age of your baby is calculated wrong or myriad other factors, but even if they are not "off" they are only showing that you have similar hormone/protein levels to some women who have had babies with t-21, t-18, t-16, etc. Essentially, by design, the test will give a large number of false positives. In this way fewer women will be caught unaware. The medical community would rather unsettle a large number of women than not prepare a small group for what is to come.

evidvold, what a beautiful post about your little girl and sitting here in tears now (probably the pregnancy hormones)!
I chose not to have triple test as wouldn't make any difference to me. My ds was born with a heart condition and was operated on in London, was it Royal Brompton.

Your little girl and your family sound amazing.

Hi - just thought i'd add my experience. I've been through this and it was a difficult time. I had 1:2 odds and it was the blood test - not the scan, that made the odds so bad.

I didn't have the triple test - they don't offer it where I live - it's apparently too unreliable. I had the bloods with the nuchal scan. We decided to have the CVS - as we couldn't have coped with not knowing - we are the type of people who need to know - so we can prepare. But I agree with many of the posts here....there's no preparation for all the other potenial problems your LOs will present you with!

My CVS came back OK and I've since found out that any bleeding during early pregnany can sometimes affect the score. I don't know if you experienced this? I did - I was admitted into A&E at week 8 with suspected miscarrage - that's how heavy the bleeding was. It seems that it affected the blood test.

Good luck with the amnio

hi, i know what it feels like to wait for the results. i had my triple test at the local hospital and did not here anything back for two weeks. i presumed the results were fine but on a Friday afternoon a midwife phoned me to let me know that my results had come back high risk and i had a 1 in 32 chance of having a baby with downs syndrome. i'm only 21 and couldn't believe it. my first scan had shown no problems. i couldn't stop crying for about an hour but i eventually phoned the midwife back to book in for an amnio. The midwife was lovely and booked me in for the tuesday, i begged for an early appointment but she explained i was lucky to get the one i had.The following days where the worst of my life,i was scared for my baby but also dreading the amnio. i went for the amnio on the tuesday and was so relieved when it was over. there was no pain what so ever and i went straight home to bed. the next two days where highs and lows. i felt positive one minute and negative the next. i phoned the hospital on thursday morning and they confirmed the baby was healthy and had no problems, she also told me i was having a girl.me and the husband were over the moon. please don't worry there are so many false positives. good luck and ill be thinking of you

Hi Heather

I had my Doppler scan today (after previous 1 in 18 chance and CVS testing negative for downs)
It turns out that one of the two arteries in my womb isn't working quite as it should. It's this which caused the blood reaults, so nothing to do with Downs after all.

It's not too bad though - the other artery is working fine, and even the dodgy one is working, just not at it's best. They said the risks are small-for-date babies (mine is still large for date) and high blood pressure or even pre-eclampsia, but blood pressure is fine right now so - so far so good. I have to go back for a scan every 4 weeks to monitor growth, and get my blood pressure checked regularly and take baby-strength aspirin to thin the blood. It's a worry of course, but compared to earlier shock and worry about CVS result this no where near as bad!

Just thought you might like to know - it could be something like this which caused your results too maybe?

I hope everything's going well for you.

Thanks again for so much useful information and advice. I´m really happy to say that we received the results of the amnio today, and everything is clear. A happy and healthy little boy! I can´t tell you how relieved we are after a very tough few weeks.
xx

That really is great news. You can now enjoy the rest of your pregnancy and look forward to meeting your little boy.

hi heather its so good to here your news. I'm so glad your little boy is healthy.you can enjoy the pregnancy now. all the best for the future xx

tash - just saw your questions - yes dd1 had her two surgeries at Royal Brompton. We were there for 3 weeks.

Hi, I'm probably coming to this thread too late but eidsvold, your story is just amazing and life affirming and I just wanted to say so. I am currently waiting for the results of a CVS - odds are 1 in 2, the highest - to see if my baby is Downs. Far more terrifying for me than the Down's is the heart issue which he allegedly will have too, even if he isn't Down's. His ductus venosus (whatever that is) is reverse flow, and I wondered if anyone knew what the heck that meant. Apparently only 2% of healthy babies have it versus 20% of Downs. I would like to know if it is a death sentence or an operable condition which I shouldn't assume is as soul destroying as I'm currently sitting around thinking it may be. My doctor told me to take "one step at a time" when I asked him this, meaning wait for the Down's results then tackle the heart. But it all feels too much. Any advice would be so appreciated, thank you so so much

Hi Sunnydale,

Im so pleased you have posted on here, im going to link this thread to the SN board, as there is a better chance of Eidsvold or another MNer spotting this there (i hope you dont mind).

How are you tonight ??

Hi TwoCuteDarlings, I was just about to post a thank you on the March 2009 thread. Thank you so much for thinking of me and posting the link to this site. I'm not very adept at using MN yet so it would be great if you could link my msg to the SN board.
I'm feeling better tonight, thanks for asking - I always feel much worse in the mornings, for some reason. Had a wobbly bit at 10am when I had to get out of the bathroom and hide from my DD on the stairs so she wouldn't see me crying, but it passed. I probably haven't cried enough tbh - just trying to keep it together for DD, DH, DM etc. Will get the results tomorrow at 5pm, apparently, via a phone call, and the very fact of knowing fills me with both relief and terror. But truly, it has helped so much to be on here and feel so much less alone. I am so grateful for everyones' kind words and advice.

Sunnydale - I don't have experience of Down's but I do of hearts ; do you mean ductus ateriosus? This isn't a defect as such - it's a normal part of the baby's heart anatomy before birth. The ductus usually closes after birth when the foetal circulation changes as the baby breathes in air. In some babies it doesn't close and is called a persistant ductus arteriosus.

Good luck tomorrow.

Hi Sag - you must have the longest name on MN - hope you don't mind me abbreviating! I honestly don't know if ductus venosus is the same as ductus ateriosus - can find no mention of the latter term on my notes. All I know is that everything else about the heart is normal, but that the ductus venosus is reverse flow, which is an indicator of Down's but also of further heart problems. I can't seem to find any further information about what these heart problems might be. Would love to allow myself the hope that the problem resolves before birth as you mention. Am clutching at straws I know, but many thanks for your reply - so appreciated.

You are more than welcome Sunny, im only sorry i cant be of much help. I dont have much knowledge of DS but i do know what is like to parent a child with special need, My DD1 has Aspergers Syndrome and well let just say life for us is quite often differant, but its not in anyway negative just differant thats all.

Tomorrow is certainly going to be a anxious day for you all will you have family/friends with you?

This the thread i posted on SN for you.

Here

The Mums on there have been the been, and still are a life line for me.

I will check and see how you are tomorrow, i have everything crossed for you xxxxx

No - they aren't the same thing, the ductus venosus is to do with foetal circulation of blood in the gut (I think).

The Children's Heart Federation has an information and helpline, and I think also encompass a Down's Heart Group for DS related heart conditions...they support many many parents.

Hi Sunny, I posted on another thread for you actually. My eldest, Charlotte, has Down's syndrome and I just wanted you to know I'm here if it turns out you need a friendly shoulder. TC x