Found out today that I am high risk for Down's syndrome!!

Had a phone call this afternoon to tell me the results from my screening tests for Down's show I have a 1 in 15 risk!! Now I have to decide whether to have the amniocentesis test or not.

I am totally scared and confused. I really don't know what to do. If I don't have the amnio, then I will spend the next 27 weeks worrying and if I do then that opens another can of worms.

If I have the amnio and the results are negative, I could still put a healthy baby at risk. If the results are positive then I have a near impossible decision to make.

If this was not my 4th baby then I would not have the test and go ahead with the pregnancy Down's or no Down's. But with 3 other children I don't feel like I could cope with a disabled baby too, and continue with my career, etc etc.

What a pickle!! Any of you ladies had an amniocentesis that can reassure me, or maybe have been in the same confusing situation??

The midwife is ringing tomorrow to see if I have made a decision. DH wants to do the test, I'm scared whether I do or I don't.

Thanks for reading.

My cousin has one son and is a few weeks pregnant... she has also mc twins and her daughter passed shortly after birth.

She has a family history of genetic issues, so testing was done. With the daughter and the living son and twin boys... All said the babies had Downs, only the daughter was born with Downs but she had many other defects which is why she passed. The son Joey is prefect and beautiful. The twins were mc at 19wks but testing was done after the were delivered and they didn't have Downs.

Thanks for the quick response. That is reassuring for me, but very sad for your poor cousin. I hope she has a normal pregnancy this time.

I hope cuz has a perfect pregnancy... they just moved to the south and they have no family nearby. She almost lost her son too, he was 3mths premature. She deserves one normal pregnancy and delivery.

You have had 3 healthy boys so aren't the odd slimmer with a forth or is it higher??? I heard from several people who were told Downs and had normal babies.

As far as I know with Down's the risk increases with maternal age, but the measured risk from blood tests etc is individual to each pregnancy, despite mother's age. I was borderline high risk with my second son, but because he fell outside the 'at risk' ratio I wasn't offered any further tests. But this time I have a 1 in 15 chance of having a baby with Down's and that it pretty high.
I know the amnio would tell me for sure and put my mind at rest, but the test carries a 1 in 100 risk of miscarriage. I would never forgive myself if I harmed a healthy baby by having it.

amnio also has a false postive risk too.... some people abort think the baby has a 10% chance at having Downs. But in the end maybe if the risk are high and you don't want to chance it then the amnio might be a good idea.

I´m sorry you have to go through this. I guess it´s very hard to give some advice, because it´s such a personal matter.
I think I would concentrate on the question what I would do if the amnio tells me the baby has Down´s.
If I were sure I wouldn´t keep the baby in that case, I would have the amnio and otherwise I wouldn´t. Ofcourse this is simplifying things too much, it is really a difficult situation. Rationally speaking, the changes of harming the baby are a lot smaller than the changes the baby having Down´s.

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Originally Posted by nicnee1976

As far as I know with Down's the risk increases with maternal age, but the measured risk from blood tests etc is individual to each pregnancy, despite mother's age. I was borderline high risk with my second son, but because he fell outside the 'at risk' ratio I wasn't offered any further tests. But this time I have a 1 in 15 chance of having a baby with Down's and that it pretty high.
I know the amnio would tell me for sure and put my mind at rest, but the test carries a 1 in 100 risk of miscarriage. I would never forgive myself if I harmed a healthy baby by having it.

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i have 2 girls one at 30 the other at 31. each pg the risk was higher for me. each tim ei freaked out. they did a U/S and saw that bone growth was normal, and physically there were no signs of downs. youre right, as you age the risk goes up. i asked how they did the screen. i dont remember much but all i remmeber is that they just use your age to determine. so its likely the "risk" or screening test will show the probabilityis higher the older you are.

im an OT and worked with kids with developmental delays and i myself didnt want a downs kid. so thats why i had teh screen done, i told my husb if the kid were downs id abort. however, once i was that far in the pregnancy i was able to feel teh baby move around already created a bond. i coudl care less if the baby was downs or not there wa sno way id abort electively. as far as the amnio, i mulled over it. some drs will say there is more of a risk for m/c with the amnio than teh risk of you having a baby with downs.
ask yourself, why do you need to know? to abort before the time limit? or just to know? that helped me make my decisions. i didnt do teh amnio and both girls came out fine. thank God.

whats the purpose of knowing for sure for YOU and dh?

Are they not going to do an u/s before offering amnio? My results with DD1 put me at 1 in 15 for downs as well, and I was only 26 at the time. I freaked. They did an u/s the next day and like gizmo mentioned, the markers they can look for were not there; bone growth was normal, etc. She is 100% fine though I thought about it every day until she was born. I wouldn't have aborted either way and the whole experience was so rattling that I didn't have the bloodwork done with my second pregnancy.

Also, I have TWO friends who went through their entire pregnancy, bloodwork, u/s and all ... and wound up being surprised with down's babies at birth. There really is no guarantee to know the baby is healthy until they arrive, unfortunately.

Keep us posted - FX that your results are a false indicator and your bean is super healthy!

My close girlfriend had a false positive with her little guy. She had a 1 in 15 chance as well. The triple screen blood test is notoriously wrong. She had an amnio done as well and after 3 weeks of waiting and dreading the outcome she was told that it was all ok. Looking back she wishes that she had said no to the blood test in the first place. Although she was not going to abort if it had been a Down's baby. I can't even begin to understand the stress you're going through right now, not knowing:( I hope that you have a perfectly healthy little baby in there. XO Hugs~

Thanks for all your advice and support. After discussing it with DH, we are going to have the amnio, just so we know either way. Otherwise I will stress about it for the next 6 months.

As for what we will do if it is positive, I don't know. If it was my 1st or 2nd child there would be no issue, but this is my 4th, and I don't know if I can manage the older 3's needs as well as the extra demands of a disabled child. But at the same time I don't think I could electively abort a child, especially since people with Down's can lead a relatively normal life. But that decision is for later on.

As DH said, we have a 6-7% chance of Down's, so a 93-94% chance of a normal baby. I have to focus on that, the odds are in our favour.

Thanks again for your words of support.

Well on a good note the amnio should tell you the gender :)

I had this exact same thing happen, TWICE. And both my babies were fine. :) Can I ask how old you are? Was it the triple screen test? I was 34 and 36 when I had high risk results, and the second time, while talking to the genetics counselor, I was told that the test has higher chances of false positives the older you get, because it was designed for younger women.

I did not get the amnio. I opted for a 3D ultrasound at a prenatal clinic that specialized in high risk pregnancies, and they looked for downs markers and found none.

Lots of people do get an amnio and have no issues; if that is the route you choose to take, I hope everything is fine and your baby is healthy.

I hope the amnio comes back with good news xox

Hobbermittens, the result was calculated from the nuchal translucency measurement, the triple blood test and my age. I am 34. When I had my scan last week I knew the nuchal translucency measurement was above average, so I did expect to be at risk, but I was shocked at how high the risk was at 1 in 15!!

We are going to have the amnio, I will call the midwife shortly, but before I do confirm, I will check with her whether there is an option to have an ultrasound.

Thanks again for the support.

How did you go? x

They might be able to do a 4 D ultrasound but only amnio will verify. I would do it too.

I would want to know and it is a tough decision because you make a decision for yourself as a parent AND for the siblings that will be left to care for the child if it does have special needs. It affects the entire family for life. Odds are, it is a false positive and your baby is just fine. Terrible to go through though. Good luck.

Hi, my friend had 1 in 7 chance and the baby was healthy, another friend had 1 in 43 and baby did have DS. The only way to conclusively know is a cvs test but thus is riskier than amnio. Personally I would need to conclusively know as I would have to weigh up my sadness against my family's and the boys future. I would pick me being sad BUT it is a horrible decision and I really feel for you. I have another friend who lost a DS baby at 2 years and I cannot imagine the impact this would have on their siblings. I hope you feel at peace with whatever decision you make, praying for a healthy bean for you

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Originally Posted by nicnee1976

As DH said, we have a 6-7% chance of Down's, so a 93-94% chance of a normal baby. I have to focus on that, the odds are in our favour.

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My doctor told me the statistics in this way also, and it really helped. :) I wish you the best of luck!

I called the midwife this morning. She said they do not offer ultrasound as a diagnostic procedure in this trust, and we do not have 3D/4D scans in this area either. The only conclusive test is CVS or amnio, and I am too late for CVS as it has to be done before 14 weeks, which could not be organised in time, since it has to be done in another city.

The amnio will be on June 23rd. SHe assures me it is a quick procedure and DH can come with me to hold my hand. I just hope that it doesn't cause any complications and that the baby is found to be OK. If not I have a much tougher decision ahead.

Thanks again for all the reassurance.

Thinkinng of you xx

This is actually a really common occurance that has happened several times on IG and all the babies turned out to be perfectly fine. My doctor refuses to do the risk screening because he feels that there are so many false positives. AGe is one of the factors that gives you a higher score, so for anyone who is at all older, you have a way higher risk of a false positive than a younger person does.

I planned to have an amnio with DS 3 but I started having horrible nightmares and I realized that a baby with Down's wouldn't be the end of my world. That is totally a question that each person must answer for themselves.

I am keeping you in my prayers and I hope that all this is soon a distant memory for you.

Thanks again to everyone. Your words of reassurance and support have helped me enormously over the last few days. I am trying not to dwell on it too much until the day comes. I remain hopeful, whilst keeping in mind what we may be about to face. As you have all said, the odds are in our favour and I am fairly sure things will be OK, but at the same time I have to be open to the possibility of the worst news.

We just took a short break to the seaside, to focus on the family we currently have and that has helped ease the tension too.

Thanks again

Well, the amnio is tomorrow, and over the last couple of weeks I have been fine. I kind of accepted it is happening and vowed not to worry about it until the day. I am a bit nervous now and I will be a wreck tomorrow.
We should find out the preliminary results in a week. They will tell us a definite positive or negative for Down's and 2 other chromosomal defects that carry 3 chromosomes instead of a pair. Then the full screen takes a few weeks, that will look at all the chromosomes to check for everything. So I will know Down's or not next week and I will update you all.

I have been so touched by the support I have had here, and from my friends and family. So many people have told me they know people in our situation that have been fine, so that is reassuring, but at the same time I have to keep in the back of my mind that there may be a problem and we may have more decisions to make.

Will keep you posted

Any news yet? I have been thinking positive thoughts that everything will turn out okay.

How did it go?

I'm sorry I only just read this. I hope you're ok x

Thinking about you, Nicnee....hope all is well. xxoo

Just to update you, I go the results today and they were normal. They will still do a full chromosome analysis, but the baby definitely does not have Down's. I am very relieved, but still can't believe the stress of the last few weeks is over. If ever I needed a celebratory drink!!!
Thanks for all the support. It has helped me enormously.

Nicnee that is great news!!!! So happy for you and your family!

That is great. Did they tell you what it is? So happy he/she is healthy. How stressful.

No, I could find out that when they do the full screen, but I chose not to. I want a surprise at birth.

That is great news on a healthy baby!

Fantastic news :D

Great news :)

What great news! I am so happy for you! :)

Excellent news!!!

Sorry I just read this....that's awesome news!!! It sounds like this is common. My girlfriends sister also got the false positive and went on to have a beautiful baby boy! She didn't do the amnio but worried the whole pregnancy! Congrats again!!!

This is fantastic! So pleased for you, I hope you can enjoy our pregnancy now!

Congratulations hunny that's great news now hopefully you can enjoy the rest of your pregnancy xx