1/11 chance of Down's syndrome..

[Sarahpg]

Thanks for sharing your experience, I am sorry u went thru this as well! From what I understand you had done is very similar if not the same to the bloodwork they did on me today. The maternity21 test draws my blood and extracts the fetal blood from mine to come up with the results for trisomy 13 18 and 21. I am not aware of anything else other than this in the US, they did say that this is a newer test, that just started about 1.5 or 2 years ago. However they told me it is 97.7-99.9% accurate, so not 100% but pretty close!

 

[Sarahpg]

Thank u all for ur replies I truly appreciate hearing the stories and encouragement. I had my genetic counselor appt this am and received ALOT of information, full family history taken and reviewed my results from the nuchal screen yesterday in depth. Some new information that I did not know yesterday (since they just gave me the 1/11):

Nuchal measurement: 4.3mm (the strongest outlier which they said skewed my results the most)
Free beta HCG: 108.07ng/ml
PAPP-A: 0.26miu/ml
Nasal Bone: present
Down Syndrome risk: 1/11
Trisomy 18and 13 risk: 1/140

Not really sure what to make if all this but that's what the paper says.

After discussing the results from yesterday she discussed options for diagnostic testing, we chose to do the maternity21 bloodtest as we had discussed before as well as they did some genetic testing on me for other various conditions that if I'm positive they will test DH as well. Basically now I have to wait up to 2 weeks (10-14 days) for my 97.7%-99.9% accurate positive or negative result. Hoping for the best. Thanks again for all the encouragement!

 

[Hope115]

A close friend of mine was told her baby prolly had downs or some other trisomy ( i dont know the numbers) but they were so sure and inconsiderate... They told her go have lunch and think about it, and after let us know if u want a d&c because it would have to be done today since she was farther along!!! She was in shock!!! She didnt abort and now has a happy and healthy 6 year old without downs.

 

[Kittyrugs]

Hello, sorry to hear what you are going through it's very hard.
I had a Downs pregnancy last year, my bloods where terrible, nucheal fold measured a whopping 9mm, and was given a 1:2 chance of my baby having Downs. I had a CVS test to confirm she had this. What was the real problem was she had very severe heart defects and would not make it to term. We made the heartbreaking decision not to continue and prolong the pain. Looking back, we realised we could deal with the Downs, we wanted a chance, but she didn't stand a chance. It's such a shock when these things happens, it all doesn't seem real, and what people say to you, you just listen and nod. Im now pregnant again, and very nervous, but I'll deal with whatever is thrown at me and fight for this little one.

I'm crossing all my fingers and toes for you, and sending you all my best wishes.

 

[Nikkilewis14]

Agreed w others....during pregnancy isaw a lot of these types of posts (1/11,1/10 chances) and no babies were born with DS! Not to say it wont happen but it looks like it may not. But that still wont ease your mind til your baby is in ur arms! Totslly understandable!

 

[happigail]

Either outcome is not the end of the world. 1 in 11 is still pretty good odds in your favour, but that extra chromosome can be gift too. Best of luck x

 

[Itsychik]

Have you had your results back?

Thinking of you

 

[Sarahpg]

Thanks for all the support ladies, I truly appreciate it and we had the past 2 weeks to educate and prepare ourselves for whichever outcome we would be given. Our genetic counselor called yesterday AM after 13 long days (2 weekends) and we received out maternit21 results. They came back negative for T21 T18 and T13. We were prepared for either result and are just glad to be "out of limbo" and feel even more blessed that this baby is healthy! We also found out that we will be having a little GIRL!

Again thank u for the support. The waiting is truly the worst part and we are happy to have answers now and I can officially move on to the 2nd tri! I feel like i put my prenancy on hold these past 2 weeks, now I can proudly say I am 14 weeks 3 days with a girl!

Best wishes to you all xx!

 

[Alexas Mommy]

That is wonderful news!! Congrats on your pink bump, and go enjoy 2nd tri!!

 

[Hope115]

Yay

 

[Lisa_84]

Wonderful news, congratulations!!!

 

[Viola Payne]

There's so much negativity about this "abnormality", it makes me sad. I wish, instead of trying to "eliminate" babies with downs, we could celebrate their uniqueness. But, I understand why you'd be worried. Still, 1 in 11 is less than 10%, it's definitely higher than average but there's still a 90+ percent chance that your baby will be "normal". If it were me, I'd start wait until they can confirm it later, and if the baby is downs, I'd do a lot of research but otherwise be very excited.

 

[Sarahpg]

Hi Viola,

I completely agree with you that DS is not the end of the world. We were in shock and caught off guard when we were given our odds, but immediately after hesring the results my DH and i knew we were goong to keep and love this baby regardless, wr just wanted to proceed with the noninvasive blood test so we could know for sure and be able to properly educate ourselves and prepare for our child. After having 2 weeks to wait and ponder what would be, I find myself shocked again With our results. We feel blessed to be pregnant and will love our baby regardless but the not knowing period is by far tougher in my opinion than finding out news one way or another.

I did learn that a DS child is a gift and found I really didn't know much about it until these past weeks and they truly are a blessing equally as a child with typical chromosomes.

Best of luck to you all for happy pregnancys!

 

[Nikkilewis14]

Yayyyy a baby girl! Glad all is well hun!

 

[onetwothreebp]

As you can see from previous replies... there are a LOT of false positives regarding Down Syndrome.

Congrats on your pink bump!

(I also recommend the book 'Bloom' by Kelly Hampton)

 

[Alexas Mommy]

There's so much negativity about this "abnormality", it makes me sad. I wish, instead of trying to "eliminate" babies with downs, we could celebrate their uniqueness. But, I understand why you'd be worried. Still, 1 in 11 is less than 10%, it's definitely higher than average but there's still a 90+ percent chance that your baby will be "normal". If it were me, I'd start wait until they can confirm it later, and if the baby is downs, I'd do a lot of research but otherwise be very excited.

Hi Viola- I don't think it is that people are concerned about giving birth to a child with a disability, so much as they are concerned with the health and well-being of their child. Having a child with a disability means the child will face challenges that will be extra heartbreaking to the parents. I am sure children with this condition are wonderful (I have heard wonderful stories, however unfortunately have never met one with this yet), but please, no one here intends to offend anyone!

 

[Lisa_84]

^ What she said.

Also (and I admit I have not read deeply into the subject) but DS people face many more potential health issues throughout their life and have a much shorter life span (I think I read around 54 years?) which would be upsetting to a mother even if her baby were 100% "normal". This isn't even delving into the social aspect of things which I'm sure is hard for DS parents too, as well as the child at times.

 

[Kandidancer]

Congratulations on your little princess xx

 

[Viola Payne]

I did learn that a DS child is a gift and found I really didn't know much about it until these past weeks and they truly are a blessing equally as a child with typical chromosomes.

I agree that having DS baby is a truly a gift