1/11 chance of Down's syndrome..

[Sarahpg]

Had my nuchal scan today at 12 wk 2 days expecting all to be good and announce our pregnancy tonight, appt did not go as we'll as expected. I had my bloodwork done at my last appt so they were able to compute my results right then and there and told us that my risk was extremely high at 1/11 and referred us to a genetic counselor:

I am in shock, my dr didn't even think I needed to have the screening test because of my age (24, will be 25 at birth). So I was expecting a result of 1/10,000 or something.

Just trying to understand it all. We see the genetic counselor tomorrow to discuss further testing. Has anyone had any similar situations that turned out to be fine? We are not wanting anything invasive as we feel this is our baby and we will love it regardless but would like to know to be prepared so we are having the maternity21 bloodiest tomorrow- as well as hearing other options since we do not know much at all.

Any advice greatly appreciated!

 

[Alexas Mommy]

Had my nuchal scan today at 12 wk 2 days expecting all to be good and announce our pregnancy tonight, appt did not go as we'll as expected. I had my bloodwork done at my last appt so they were able to compute my results right then and there and told us that my risk was extremely high at 1/11 and referred us to a genetic counselor:

I am in shock, my dr didn't even think I needed to have the screening test because of my age (24, will be 25 at birth). So I was expecting a result of 1/10,000 or something.

Just trying to understand it all. We see the genetic counselor tomorrow to discuss further testing. Has anyone had any similar situations that turned out to be fine? We are not wanting anything invasive as we feel this is our baby and we will love it regardless but would like to know to be prepared so we are having the maternity21 bloodiest tomorrow- as well as hearing other options since we do not know much at all.

Any advice greatly appreciated!

First of all, remember 1 in 11 isn't a definite chance... Honestly, I would ask for a second opinion. Blood work can be mismanaged sometimes. What did the nuchal scan say? Or was the result due to both the scan and the blood work? Try not to worry too much until you get further testing done.

 

[Sarahpg]

Thx for the reply. I didn't get the breakdown of everything because it was so chaotic in the room with tears etc. but the 1/11 was based on the combine results of the nuchal and bloods together. They sent my ultrasound and bloods to the genetic counselor who we are meeting with tomorrow AM and they will discuss at length with us. They did say that this maternity21 blood test takes 10-14 days to come back, so it will be another TWW for usair any additional answers.

I know it is not a definite, but we were just caught totally off guard and the dr and ultrasound tech were as well which left an uncomfortable feeling. Also the sense of urgency really freaked me out, but I guess that's good they don't want to delay but I've never had a referral and appt scheduled in less than 24 hrs with a specialist.

Hoping for the best...

 

[liz1985]

No real advice but when I was pregnant with DS a knew of a lady who got a 1:2 chance and her baby didnt have it. You could be 1:10,000 and still be the 1.

Will the test your having tell you 100%? My only practical advice would be to write down all your questions beforehand as its easy to forget things in this situation, then either way you can ask everything you need to know.

Good luck, I hope everything goes well.

 

[Sarahpg]

Thank u! They ssaid over the phone when I made the appt that the maternity21 bloodtest is 97.7% accurate where CVS and amino are 99.9% . I plan to ask about the stats on false negatives, so if it comes back negative I can be relieved as well as false positives. Seeing how we feel that we will keep the baby regardless and love it97.7% is pretty good for me, and if they say positive, maybe it will be a false positive in that 2% and I will get a very nice treat at delivery.

If we decide we want even more conclusive, we can still have amino done after, not cvs because we will be too late.

Good idea I will definitely make my question list tonight because I tend to freeze up on the spott.



QUOTE=liz1985;27835485]No real advice but when I was pregnant with DS a knew of a lady who got a 1:2 chance and her baby didnt have it. You could be 1:10,000 and still be the 1.

Will the test your having tell you 100%? My only practical advice would be to write down all your questions beforehand as its easy to forget things in this situation, then either way you can ask everything you need to know.

Good luck, I hope everything goes well.[/QUOTE]

 

[mhk425]

I'm sorry you're going through this! I know it has to be really scary. Just remember though...you have a 10 out of 11 (91%) chance that the baby is fine! So really, that answers your question about whether or not others have had similar results and been fine. The odds are definitely in your favor!

 

[NKL120309]

Sending positive thoughts your way

 

[Kandidancer]

When my friend had her first dd, she was told 1:15 chance of Downs Syndrome she had all the test and the needle in the stomach test and her dd didn't have it. 18 months later she had another baby with 1:1000 risk ( although at this point she was 38) and she didn't have downs either. Sending positive thoughts to you xx

 

[Louise88]

I know there's a few ladies on this forum who got high chances of Down syndrome and their babies came out just fine

 

[Misscalais]

One of my closest GFs were told their baby would have DS. He is a happy healthy 5.5 mth old no DS.
Try not to stress too much.

 

[Sarahpg]

Thank you ladies, your positive words are all very much appreciated. It is 4am here and I am wide awake but grateful to have your support to turn to. I am not really sure how I am going to get through the next 2 weeks waiting for results, it has not even been 24 hrs since the screening and I have not made it one hour without tears or fear. DH is trying his best to reassure me but I know he is scared too. If anyone has tips on how to manage the waiting game, please share.

Thx,
Sarah

 

[eddjanuary10]

Sorry to hear your having a stressful time, thinking of you & hoping you get positive results. xx

 

[youngmamttc]

Sorry your going through such a hard time. I hope all is fine for you, im not sure on advice but id thought id let you know me niece is 18 month old and she has DS. Was a completely surprise as they missed out on the screening but she is such a perfect little girl. Sorry i didnt have any advice just thought id give you a ray of light

 

[Heather.1987]

I know its scary news, and I would be upset too. But remember there is a 91% chance its fine. Also, I work with all sorts of special needs kids, and I tell you, downs kids are so sweet and loving. They can have almost normal lives. No matter the outcome, it will be ok!

 

[Hopeful1479]

Had my nuchal scan today at 12 wk 2 days expecting all to be good and announce our pregnancy tonight, appt did not go as we'll as expected. I had my bloodwork done at my last appt so they were able to compute my results right then and there and told us that my risk was extremely high at 1/11 and referred us to a genetic counselor:

I am in shock, my dr didn't even think I needed to have the screening test because of my age (24, will be 25 at birth). So I was expecting a result of 1/10,000 or something.

Just trying to understand it all. We see the genetic counselor tomorrow to discuss further testing. Has anyone had any similar situations that turned out to be fine? We are not wanting anything invasive as we feel this is our baby and we will love it regardless but would like to know to be prepared so we are having the maternity21 bloodiest tomorrow- as well as hearing other options since we do not know much at all.

Any advice greatly appreciated![/QUOT


I had the same thing happen to me... I am not sure where you are located but I was able to do a genetic blood test which extracts the fetal blood out of mine and tests it for a 100% positive or negative result. THis test was performed at a hospital in my area which specializes in abnormalities and special pregnancies and births. Its a fairly new test and is not covered by insurance but I was willing to pay the $285 bucks for a peace of mind. My other option was to have the amnio but I did not want the risk. I too was like you in shock... Think about it like this.... There are 10 red balls and 1 black, what are your chances of picking the black one on the first grab?? I know its tough, but those blood tests are not accurate, how did your ultrasound go, was the nasal bone present?

Best of luck on what you decide and the outcome!!

 

[Emzy1]

Im my last pregnancy had a 1 in 5 chance of downs syndrome. I was only 24 so the thought didnt even cross my mind before. I will never forget the shock. I was pushed in to having an amnio to know for sure and it turned out we were lucky he was fine.
This time I am not taking the test.
In the week that I had to wait for the results I googled like crazy woman and read so many storys about false positives. Loads of things can also affect the results such as having a bleed, smoking, getting dates slightly wrong. In my case I had a fairly big bleed. I really hope things work out for the best I have everything crossed for you

 

[nickyb]

I'm really sorry your going through this, there's no feeling like being told there's something wrong,
Are they only going by the combined tests? Did baby look healthy ie no abnormal fluid nasal bone present etc?
I'm sure ur baby is fine these tests can be so misleading stay positive Hun

 

[daizee]

so sorry that you are having extra stress at what should be a happy time in your life.

I wish they would stop putting so much emphasis on a womans age and ds as its heartbreaking for young mums to be faced with what is commonly portrayed as only an issue for us older mums

 

[Emzy1]

I some how sent my post again sorry.

 

[Sarahpg]

Thanks for ur reply. The 1/11 was the combined result for the nuchal translucency measurement and the bloodwork. They did say that the nasal bone was present, but noted that this fact was not calculated into my result of 1/11. So I would imagine that helps a little but I am not quite sure..

I'm really sorry your going through this, there's no feeling like being told there's something wrong,
Are they only going by the combined tests? Did baby look healthy ie no abnormal fluid nasal bone present etc?
I'm sure ur baby is fine these tests can be so misleading stay positive Hun