NIPT shows very high risk of trisomy 21- next steps

[Llhg17]

Hi, I was unable to have the nuchal measurement taken at 12 weeks as the baby was moving about too much and it was later decided it was 14 weeks at the time. I therefore had the NHS quad blood test which came back with a 1:11 chance of Down’s syndrome. We opted to have the private NIPT serenity test which came back that trisomy 21 aneuploidy has been detected which reports as a very high risk. I have already had my 20 week scan which showed a nasal bone and above average femur length with no soft markers. I have been offered another scan to look in depth at the heart (amongst other things) but my partner and I don’t want the invasive testing due to the risk of miscarriage as this is our first pregnancy after trying for four years. So, my questions are: does anyone have any suggestions for next steps, has anyone experienced the same thing and if so what was the outcome? Thank you in advance.

Hi,
I’m so sorry to hear you have had this news. I have just been through a very similar experience as you and I know how difficult it is.
My NT and bloods were 1:169 (supposedly low risk) but I decided to have the private harmony test done anyway. This came back as high risk for Trisomy 21. I felt as if I needed to know for sure as they do say there is a rare chance of a false positive with NIPT, and so I had the amniocentesis. I wasn’t keen as I have had previous miscarriage but this was the only way I could have found out for sure. Unfortunately for me it did confirm that by baby had t21.
I guess the question is would you continue with the pregnancy if it was positive for t21? If so then there is no need to go for the amnio. If you do decide to have this done I can assure you that it really wasn’t that bad, not painful just a strange feeling.
Thinking of you x

Thanks for replying Bunty1987, yes regardless of the outcome we will keep it as we’ve waited a long time to become parents, it’s just perhaps not the future we expected. It’s also frustrating that there is no other definitive answer available aside form invasive testing 😔

We had a postnatal diagnosis of T21 following the birth of our little one last year. We had decided not to have the combined test at 12 weeks as wouldn’t have gone on to have an invasive test should the result have been “high risk” (I would have also ruined my pregnancy by taking to google and worrying!) . Our scans showed no soft markers....nasal bone present, heart fine, femur length fine etc. Our little boy is perfect! He has no other medical conditions and is doing so well, he makes my heart burst with pride! Please try not to worry and just enjoy your pregnancy! If you have any questions feel free to send me a message x

Thanks Gilbert82. We have the heart scan on 5th June so I may contact you after that - thanks for the offer, much appreciated x

Congratulations OP. positiveaboutdownsyndrome.co.uk/ has lots of stories from parents and young people with Down Syndrome about how life is. The Down Syndrome Association has contact details for local support groups. I hope all looks good on the heart scan and that you enjoy the rest of your pregnancy.

I didn't know my DC had T21 before he was born so it was a bit of a shock, but now I couldn't be more grateful to be one of the lucky few. You'll see. There's absolutely nothing for anyone to be sorry about!

Hope all goes well at the heart scan xx

Hope it goes okay. I was high risk with the combined test at 1 in 24 chance, however for me the NIPT came back as highly unlikely to have any chromosome abnormalities..I believe they pick up 99% of downs syndrome. I've had 2 previous MC before and me and my partner both agree that if the NIPT came back as high risk it wouldn't change our feelings about the baby. I hope everything goes okay, either way I'm sure your going to be amazing parents xx

Hi, just wanted to update for anyone interested. We had the heart scan today with the result that everything was healthy, heart fully formed and all organs normal as well as within average measurements and weight. Obviously they always add the caveat that things could develop at a later date but I’m relieved for the moment. Will have another growth scan at 28 weeks and another fetal echo at 30 weeks. Thanks to everyone who commented, it helped a lot x

Glad your heart scan went well enjoy the rest of your pregnancy and your little bundle when he/she arrives x

That’s great news! When the baby’s born, still get them to do the cardiac checks though - some issues can’t be picked up before birth. My DC has a couple of heart defects which weren’t picked up until he was 8 months. They don’t affect him in any way, he hasn’t needed any intervention and just sees the cardiologist annually, so nothing major at all, but it’s best to keep an eye on it.

I’m in a similar situation. I’m 37 so did the NIPT, this is my second pregnancy, and a surprise which we are now very excited
About however initially it was a shock
As my son is only 14 months.
I did the Harmony test at 11 weeks and a week later I got a call from the lab saying the bloods had been compromised and I needed to repeat the sample. This in itself freaked me out as I thought how strange that could happen, and of course started thinking the worst. A week later, ie on Wednesday (making me 13 weeks) I got a call from the lab saying i tested high risk 97% probability for Down Syndrome and I needed to speak to my dr asap.
My dr has said it´s extremely accurate with negative results however with positive results it´s very sensitive and that I need to diagnose with an invasive test.
On Thursday I did 12 week ultrasound and the CVS. the ultrasound showed normal markers- ie heart beat normal, height normal and normal NT. I am still waiting the results of the CVS which I won't have until next Thursday or Friday.
The uncertainty is making me so anxious and sick to the stomach.
I was convinced the baby would be Down’s but now the ultrasound looked normal it’s given me some hope.
I guess I'm looking for hope that our baby will be in the clear. has anyone else ever gone through this where the odds are so strongly stacked against them?

I am sorry for the difficult time you are going through.
NIPT is very accurate for Downs syndrome. It is very unlikely to be incorrect, but still possible. Many babies with Downs syndrome give no clues on scan, which is why many are diagnosed after birth.
Have you come to a conclusion about what is best for you if the CVS confirms it? Can I suggest that you look at www.positiveaboutdownsyndrome.co.uk to get really up to date information about what life is like with trisomy 21 in 2019. It is very important to be sure that you are making your decision based on good quality information.
Do get in touch if you need any information or a sounding board.

Thank you for replying. After reading about it we have decided we won’t proceed.

Emotionally I am preparing myself for the worst so it is good to hear replies such as yours which are realistic instead of trying to hold onto a glimmer of hope

I have a child with DS it's honestly not the end of the world! He is a fantastic little boy and I love him with all my heart.

It’s obviously completely your choice if you continue the pregnancy or not but what have you read about Down syndrome? Have you spoken to any parents of children with DS? There is so much outdated and negative information online about DS which couldn’t be more different from our experience of having a child with DS!

Congratulations on your pregnancy & so good to hear that all is well with baby's heart. If you do go on to have a baby with T21 please get in touch with positiveaboutdownsyndrome.co.uk/
There's also antenatal support if you're interested too. There are some amazing & uplifting stories about the positive reality of living with DS in the 21st century.

How did this pregnancy turn out? Thanks