Downs Syndrome & Spina Bifida - Elevated on Triple Scree

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Downs Syndrome & Spina Bifida - Elevated on Triple Scree

Postby mrssamona » Thu May 29, 2008 3:34 pm

Hi everyone,

I've posted this in the second tri but I want to get your opinions on these numbers.

I had what i think was the Triple Screen - I had an ultrasound at 12weeks with a blood draw and then another blood draw at 17weeks.

My results came back elevated and the dr's gave me these numbers:
Downs Syndrome 1:3
Spina Bifida 1:5

The doctor also said that she had never seen both numbers SO high and more than likely there is something wrong with my baby.

She said the normal range is
DS 1:110
SB 1:300

I'm going for an ultrasound tomorrow and then on Monday we have an appt. with the genetic counselor and then have the amnio.

I would like to know what any of your experiences with these numbers are?

Thank you in advance!!!
Nicole - 31
DH (Randy) - 34
DD - Sofia Bella 8/13/11 3lbs 15oz (35w6d)
DD - Madison Claire 4/20/09 4lbs 15oz (37w3d)
DD - Isabella Claire 6/20/08 Born Still :angel:(21w2d)

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Postby SaLT » Thu May 29, 2008 5:03 pm

I don't have ANY experiences with these numbers like this, mine have always been low. I don't know my numbers for those, but mine came back 1:6,000 for Trisomy 18, but I've had 2-3 soft markers (Choroid Plexus Cyst, c-ACC & hydrocephalus) for Trisomy 18, so now we're awaiting a quick-turn-around amnio results (called a FISH).

The Genetic Counseling is wonderful and that's where, IMO, you'll get the most answers more so than from the Doc (unless you have a REALLY fabulous Doc). So, have your questions ready for there. They'll probably ask you if you want to sign consent for an amnio, but if you don't feel like making the decision yet, you can decline the amnio & decide to do it later. What I'd do is have the level II u/s and THEN decide to have the amnio *if* they find ANYTHING on the u/s. The amnio wasn't painful at all, even with no anesthetic. I had mine yesterday--haven't had any ill-effects from the procedure. It's very creepy feeling, so just be still & breathe, you'll do great if you end up having it. BTW, those blood tests aren't the best method of detection, they're just a risk evaluator. GL girlie!! ;o)

PS--I've had a Fetal MRI, too. My baby has a 5:1 million condition, so I'm pretty sure you won't have it (it's a REALLY rare thing to have done, the MRI), but if you do or anybody else reading this does, PM me!! I'm here for ya!
Me, 29 & DH, 31
DD, 5 & 3
DD, :angel: June 5 '08
DS, June 5th '09
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Postby Baby4Staci » Sun Jun 01, 2008 8:55 pm

I dont have any experience with the numbers but i just wanted to wish you luck with your upcoming appointments..
Mason Anthony born 1/9/07
Savannah Ray born 5/9/09
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Postby dixiechicken » Mon Jun 02, 2008 8:30 am

Any news? Been thinking about you!
Jennifer(35) Curtis(34) Wade--5/22/07
"officially" diagnosed with CP 4/22/08
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Postby Leighsah » Mon Jun 02, 2008 10:43 am

My risk was elevated for Down Syndrome, but not as elevated as yours. My son ended up not having Down Syndrome though......those tests are definitely not accurate.
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Postby mrssamona » Mon Jun 02, 2008 1:46 pm

Hi Ladies,

Back from the amnio...

It was not as bad as i anticipated...

The baby is measuring 2 weeks behind which is a big concern according to the dr's

They are also testing for an infection due to the fluid on the brain, they mentioned if i was sick at any point in the pregnancy that baby could have been infected..

I did have the flu at the beginning so now i'm freaked out about that..


Thank you all again for your support you've been wonderful and as soon as i get a call about the FISH results i will let you all know!
Nicole - 31
DH (Randy) - 34
DD - Sofia Bella 8/13/11 3lbs 15oz (35w6d)
DD - Madison Claire 4/20/09 4lbs 15oz (37w3d)
DD - Isabella Claire 6/20/08 Born Still :angel:(21w2d)

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Postby Belle2625 » Tue Jun 03, 2008 8:13 am

I was 1:5 for Spina Bifida and slight elevated for one of the others, but I can't remember which one. The Dr. said it was most likley just because my other number were so high. I was 8.56 greater than the mean. My Dr. also said that in all his years of practice he had never seen a number that high. Which was devstating. Have you had a Level II ultrasound? Did they find any markers? My baby ended up having anencephaly and I was induced at 20 weeks. I'll be praying that your amnio comes back perfectly. Good Luck!
Richale-33 momma to:
Emelyn - Anencephaly, born still @ 20 weeks
KJ - Born 23 weeks, our angel 1/5/09-5/19/2012
Annslee Belle 2.5 yrs- Born 34 weeks 2 days.
Maeve Josephine - born 7/18/14 at 36 weeks
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Postby mrssamona » Tue Jun 03, 2008 9:56 am

Belle2625 - I'm so sorry about your little one..

They did do an ultrasound on Friday, looked at the spine and said that it looked good.. Along with everything else but the extra fluid on the brain...

Did they detect the anencephaly on ultrasound?
Nicole - 31
DH (Randy) - 34
DD - Sofia Bella 8/13/11 3lbs 15oz (35w6d)
DD - Madison Claire 4/20/09 4lbs 15oz (37w3d)
DD - Isabella Claire 6/20/08 Born Still :angel:(21w2d)

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Postby Belle2625 » Tue Jun 03, 2008 11:55 am

yea they found it on the ultrasound, it's a diagnosis that can't be missed. She had classic anecephaly, there was nothing above the eyebrows.

again, good luck. it's a really good sign that your ultrasound went well. kup.
Richale-33 momma to:
Emelyn - Anencephaly, born still @ 20 weeks
KJ - Born 23 weeks, our angel 1/5/09-5/19/2012
Annslee Belle 2.5 yrs- Born 34 weeks 2 days.
Maeve Josephine - born 7/18/14 at 36 weeks
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Postby manynums » Wed Jun 04, 2008 6:18 pm

Does your child have Ancephaly or Hydrocephalus?

Hydrcephalus is treatable and kids can have normal neuro function. Our daughter's brain looked good on u/s and her ventricles were enlarged because of the hydrocephalus.

She had a shunt inserted on her 4th day of life. She just had a revision procedure Monday (Day 20 of life) to reduce the pressure. You should see her today...all bright-eyed and fat and sassy.

I'm by no means an expert on the subject, but with the right doctors a lot of this is pretty manageable. Sasha has Spina Bifida as well and the back closure surgery was MUCH scarier than the shunt insertion.

Hugs...and hope that everything turns out well for you!
Breastfeeding, babywearing, cloth diapering WOHM. Married to my HS sweetheart & best friend. Proud mama to my two chicklets.

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Postby ahenderson05 » Wed Jun 11, 2008 2:46 pm

Hi Hon, Have you gotten the results from your amnio yet?

Hope all is well.
Amanda (33) DH (34) H(13) M(9) K(5) C (2) G (1)

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Postby mrssamona » Wed Jun 11, 2008 2:51 pm

We did get the FISH results back and everything was normal for Downs Syndrome, Trisomny 18 & 13.. We are still waiting for the official results from the amnio...
Nicole - 31
DH (Randy) - 34
DD - Sofia Bella 8/13/11 3lbs 15oz (35w6d)
DD - Madison Claire 4/20/09 4lbs 15oz (37w3d)
DD - Isabella Claire 6/20/08 Born Still :angel:(21w2d)

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Postby manynums » Tue Jun 24, 2008 7:04 am

I'm so sorry for your loss. The memorial in you siggie is beautiful. God bless you and your family...
Breastfeeding, babywearing, cloth diapering WOHM. Married to my HS sweetheart & best friend. Proud mama to my two chicklets.

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