Down Syndrome High Risk (1:13)

[susiebaba]

We had our first NT Scan at 13 weeks and the first trimester screening tests for Trisomy 18 and Down Syndrome yesterday. Based on the results, the baby has a high risk of Down syndrome (1 in 13)! While I completely understand that there is a more than 90% chance that she is going to be ok, I have been worried sick about this. I am a 36 year old and this will be our first child. The tests results show the following:
- PAPP-A MoM: 0.24 based on 213.24Micro mL
- hcGI MoM: 1.72 based on 116.94 1U/mL
- NT MoM Fetus A: 1.07 based on 1.5 mm
No clue what these mean other than the fact that it was the blood results (PAPP-A & hCGI) that put us in the high risk. The NT scan results seem to be in the acceptable range for a 13 week old. I am trying to reconcile with these results and this forum has been really helpful. Some of the threads seem to refer to the presence of the nasal bone to be another factor to be taken in to consideration for screening tests. My tests unfortunately do not mention anything related to this… Are there any other factors that should be considered or looked in to as part of the NT / ultrasound scan at this point? I’m wondering if I should call up the diagnostic center to enquire about this.
As soon as we got the results, we went in for a MaterniT21 test which has a much higher accuracy. Have any of you gone in for this test? We are also planning on going in for an Amnio. Look forward to hearing from any of you about other options / tests or for that matter tales of hope – we need it!

 

[Mummy of Ange]

Im high risk of having a downs baby but mine was different to yours, the nuchal fold was picked up at the 20 week scan.

I refused the NT scan in the first trimester, didnt think i needed it as i was 32 at the time, but when i went for the detailed scan at 20 weeks the sonographer told me that the neck thickness was 7.4mm when the maximum is 6mm. Well like you, i have been worried to death, i have been Googling non stop and worrying about every measurement at every scan.

I didnt have any bloods done to accompany the nuchal fold measurement as apparantely this is only accurate in first trimester. I also refused the amnio because i have had 3 losses so thought no matter what i would not terminate the pregnancy, so here i am coming upto the big day and im still worried.

A lady on this site had a thick nuchal fold measurement and high blood results (not sure on exact numbers) but like me has been worried all the way through, she gave birth last week to a little boy who is 100% healthy.

Remember these tests are just showing the risk, they are not actually diagnosing anything.

Sorry i cant really help you anymore, but im sure somebody will be along soon with more info from the first trimester testing xx

 

[_Lexi_]

I was high risk for downs, with a 1 in 20 chance. This was picked up by bloods and nuchal fold. I opted for a cvs at 13 weeks and it came back clear. You'll see in my signature that Joshua passed at 13 hours old, but they think it was from a very rare genetic syndrome, that had no effect on nuchal fold or bloods, so please don't worry about that. I wouldn't of terminated if he had of had ds, I just felt that I needed to know what to expect. Just remember that you still have a 12 out of 13 chance of everything being fine. The amnio will give you the answers you need. A friend of mine was given chances of 1 in 5, and baby was fine, then you'll get women that get odds of 1 in thousands, and they may have a ds baby. Just try and stay positive, I know it's hard from my own experience though. I just looked at it as I'd rather have a high chance, opt for the testing and find out everything's fine, or be able to prepare myself, than be given a low chance, with no further testing and be taken by surprise xx

 

[madmae]

My odds for downs were 1:5 and our amnio came back as clear. I was the same as Lexi I wouldn't have aborted I just needed to know.

Lexi I am so sorry for your loss.

 

[TrustAllah]

hi

my case was very different to yours, so i'm afraid I can't realy elaborate on what options are available. However, I can share my story of hope with you. At 13 weeks into pregnancy last year I began spotting and feeling very uncomfortable from time to time. I knew something wasn't right and by Week 17 drs confirmed my membranes had ruptured (also known as pprom). And this is where it all began. They strongly advised a termination as there was a 95% likelihood of my baby dying in my womb or at birth as she wouldn't have any lungs. I refused termination regardless of the outcome, and i was prepared for the worst. I was scanned weekly thereafter and had blood tests twice a week and every scan would show little or no water around my baby. However, for me it was always enough to see her heart was still beating. Each time i had a scan the midwife would look at me as if to say sorry. My consultants words were: "There's no hope". My poor baby had been written off completely and all i had left was hope, i hung on to the 5% chance they said she had of survival. I didnt care even if she had Downs Syndrome, I just wanted hr to survive. I put my trust in God and raised my hands in prayer day and night for the next 13 weeks and at 29 weeks i had a cord prolapse and had an ecs. My lil star was born and taken to nicu. She was ventilated but unfortunatly the next day we were told that her lung had torn and that there wasn't much else they could do after putting her on nitric. But guess what she proved everyone wrong and defied science! She fought for her life and made it! And now she is a perfectly normal cheeky lil 8 month old miracle that I absolutely adore to bits! I hope this gives you hope and remember what doctors say isnt always true. And just to let yu know that i have 2 amazing boys, both of whom have rare syndromes which drs couldnt even predict during pregnancy. Not that I would ever choose to terminate them, I wouldnt change them for the world!

 

[susiebaba]

Thanks Mum_of_Ange – Praying for your big day … when are you due?
Lexi, I am so sorry for your loss. Thank you so much for your words of support.
Madmae, Really glad for you – Good luck
TrustAllah, admire you for your strength – really happy for you and how things turned out.

Thank you all for your words of support.

 

[Mummy of Ange]

Thanks Mum_of_Ange – Praying for your big day … when are you due?
Lexi, I am so sorry for your loss. Thank you so much for your words of support.
Madmae, Really glad for you – Good luck
TrustAllah, admire you for your strength – really happy for you and how things turned out.

Thank you all for your words of support.

Im due 11th May, but i honestly believe she will be an April baby, im huge. The worry will never go away. My babies nuchal fold measurements reduced within range at the follow up scan, she has long femur bones (98th percentile) and everything looks good but i still worry, i think its natural xx

 

[elfin2011]

Hi susiebaba,

I had a high risk result for my second baby, 1:15. My blood test results were similar to yours, with Papp-a being 0.39 MoM and bHCG being 1.65 MoM. My nuchal fold was higher than yours though at 2.6mm. (your nuchal fold is great, btw)

I went on to have a CVS as I wanted to know what we were facing and also because I had another child to consider, but I'm happy to say that that came back clear and my second little boy is 1 next week.

I'm not sure what a MaterniT21 test is, sorry. I live in the UK, I'm guessing you don't? With the nasal bone, I know that in the UK it's not routinely looked for unless you have a private scan.

 

[susiebaba]

Elfin, really glad for you ... We have the amnio planned for the end of this month. Yes, MartniT21 is a relatively new test that is being offered here in california which is supposed to have a 98.5% accuracy. We did this test about 5 days back and are currently waiting for the results --- its been an agonizing last few days - hopefully we will hear some news in the next few days.
Our doc advised us to go with the Amnio to be absolutely sure since the martniT21 is relatively new ...
Thank you for the words of support ...

 

[babygirl1978]

This is my first time ever posting, I had to share my experience to encourage someones heart today. This last week has been the hardest for me. I was told by my Dr that I had an 1 and 3 chance of having a baby with down syndrome after my blood result had came in. I have a little sister who has syndrome so In my head my baby had Down Syndrome there was no way those odds can be beated with me having a family member with it. How ever I decided to pray and give the situation to GOD whatever he wanted is what is was going to be. We decided to have the amino test and today I received the results from the FISH..NEGATIVE the baby is fine. GOD is amazing never doubt his power continue to pray and let the Lord work it out for you. Be BLESSED AND HAVE FAITH!!

 

[FEDup1981]

I had a 1:11 risk of DS. I had an amnio and all was fine. Like the others, i needed to know and prepare myself incase x

 

[janey5]

I had a 1:4 risk when i was having our daughter. I hope my story gives you hope.
https://www.babyandbump.com/pregnancy-second-trimester/115402-high-result-nuchal-scan.html

Good luck

 

[wantagirlnow]

Janey, did they give you a reason why it was high? mine was 6.1mm at 21 wks and am so worried, just waiting it out really xxxx

 

[janey5]

Yes, my nuchal measurement at 13 weeks was 4.4mm. I think with that measurement and my age etc (I was 36 at the time) thats what gave me the high odds. I spent hours online looking for other peoples success stories and found many even with a much higher measurement than mine. Even after the CVS results came back all clear, i still had to go to a specialist hospital for indepth heart scans on my baby. It was the worst time of my life. If i ever have another child, theres noway i will go for that nuchal scan again. I know a girl who's scans were all perfect and she had a downs baby, so it just shows you doesn't it.
Good luck

 

[rebeccalouise]

hey hun, I know it's not the same thing but I've just been told today that my baby has a 90% chance of being disabled due to a CMV infection I've picked up & problems they've detected on scans. I've had to pretty much just take the news that my baby will have some sort of problem & it's the most horrible thing I have ever been through, so I do know how you are feeling. if there's anything you're feeling that you think I could help you with, feel free to message me. you just have to think though, your baby has such a high chance of being perfectly fine! I know that all you seem to focus on is the bad though, I'm exactly the same x

 

[parky]

With our last baby we got a 1 in 15 chance of downs and like many of you have said, although we would never have ended the pregnancy we felt like we needed to be prepared so opted for the amino. Sadly 48 hrs after the amino I went into labour due to an infection and we lost our little girl at 18 weeks. The results showed she was a perfectly healthy baby and we are obviously devestated. We promised ourselves we would share our story because although we are the unlucky ones, amnios do carry a risk and it's pretty rough living with the knowledge that we lost a perfectly healthy and desperately wanted little sister for our little boy. It's not my intention to scare people off the amnio, we just wished someone had shared a story like ours with us while we agonized over whether to have the amnio because we may have thought differently

 

[Mummy of Ange]

My consultant said that you have more risk of miscarrying from an amnio than having a downs baby that is why we refused. No matter what, we will love our little girl, its just the not knowing xx

 

[Joesmom]

I am 13 weeks pregnant, and i was recently given the odds of 1:5 of having a Down's Syndrome baby. My nuchal fold screen was 2.7, which is on the higher end of normal, but still in the normal range (below 3). My bloodwork is what made the risk came out high. I had the MaterniT21 done today, does anyone have a similiar experience?

 

[susiebaba]

We did the materniT21 a few weeks back and the results came out fine! Truly non-intrusive with results from a blood draw - the results are 98.6% accurate. This is a fairly new procedure introduced back in October in california. Yes, 98.6% is high accuracy but we really dont want be part of the 1.4% ... so we are planning on going for the Amino - no matter what - just to be sure. Thank you all very much for the words of support.