Spina Bifida

Mommyofcarson+1

So my OB just called, and since I didn't have the NT scan (was measuring too far ahead) I had a quad screen done. It came back positive for spina bifida. I am so glad that it was negative for trisomy 21 and 18, however I am still in tears because I am scared and worried and know that there is such a wide range of severity. How often is a positive test false? We will be hearing from the neonatal specialist hopefully later today to schedule a more in depth ultrasound.

BusyZee

@CarsonsMommy I just got my tests done aswell and before I had received results I asked my doctor the chances of positive results. She said they come back positive even if there is a slight spina bfida and usually isn't a cause of concern. Meanwhile the only thing I would suggest is to stay positive, have dha and folate meanwhile and try not to come to conclusions without consulting a specialist. Stress did no one good. 

dancegurl1118

The test is just a screening process, it is NOT diagnostic. It is really hard to be in limbo and not have anything definitive, but take solace in the fact that the odds are on your side. Even a 1 in 100 risk (which is considered a "positive" test) is only a 1% chance. Hugs, lady. I'm sure this is so stressful until you get a definitive answer. 

Twinkiedoll

I'm sorry for the stressful news.  But I also want to reiterate that the quad screen is not diagnostic.  A close friend of mine had a positive screen for her high risk pregnancy, and the amnio, which is diagnostic, came back negative.  She gave birth to a healthy girl last week.  I wish the same results for you.  Sending you internet hugs.

kat0607

Sorry you had to receive such stressful news! From what I understand, the quad screen is meant to be just a screening for risk assessment, not a definitive diagnosis. Your OB might suggest an amniocentesis for further testing, but I know even an ultrasound can detect spina bifida. Hang in there and try not to stress too much...hoping and praying for good results and some peace of mind for you!

yellow1daisy

Just to reiterate what others have said, this is not diagnostic and there's a very good chance everything will turn out fine. I'm so sorry you're going through this stress right now. 

greenbean-2

Just want to say I'm sorry you got such scary news and I hope you can get that ultrasound soon!  The odds are still in your favor, even with a "positive" result. 

Itsnotyourturn

I'm so sorry @CarsonsMommy, this must be so stressful.  I am no expert on spina bifida but my Step Mom's sister (step Aunt?) was born with it and her case was on the more moderate/severe end but she walks without assistance now just fine.  I think there have been considerable treatment advances since she was born.  Although I wouldn't worry until you know more.  *hugs* lady, so many *hugs*

lph4248

Nothing to add, just keeping you and your LO in my thoughts while you wait for more information. Internet hugs.

supermom83

I'm so sorry you got such scary news. My doctor made sure to tell me over and over again while he was drawing blood for the quad screening, that he sees a TON of "positives" for issues when looking at results of a quad screening, and takes them all with a grain of salt. His exact words were "I sort of roll my eyes at them and wait for the anatomy scan. A positive on a quad screen really doesn't mean much." He explained that if there is just one marker for something, they tag it as positive, but to have the actual disease you'd need a ton more markers, so one positive means nothing. He explained something related to a nose ridge meansurment and how many babies have a shorter nose ridge, and are totally normal, though a high percent of babies with downs have it. So it's considered a marker, though to actually have downs, you'd need at least 4 different markers, and just having a shorter nose ridge doesn't mean anything and can be totally normal. 

So hopefully it's the same situation with you and the spina bifida marker. Keep us updated. (((Hugs)))

Mommyofcarson+1

Thank you ladies. I am considerably calmer. We all wish the best for out babies, and knew that since she was calling, that there was something "wrong". I know it isn't the end of the world, and will just keep myself busy knowing that it may be a false positive and secure in the fact that the anatomy scan didn't pick up any abnormalities, so it can't be that bad even if it actually positive. Again, thank you guys so much for the reassurance, I am much calmer now, though anxiously awaiting the call from the specialist and then the ultrasound.

SaphireSweetie88

@CarsonsMommy - I will keep my fx for you and you baby. Stay strong mama!

mrscate88

Keeping you and your little one in my thoughts and prayers mama 

manillabar

Your little one is in my prayers! Hoping that the ultrasound shows that everything is ok, and echoing what everyone else has said about screening tests vs diagnostic tests. 

virginiaunicorn11

Oh lady. How stressful! Sending endless love and best wishes for your sweet baby. I'm glad you're feeling better. Keep us posted

SpongeWorthy

Just wanted to say I have my FX for you and a healthy little one.  Thinking of you and sending you calming thoughts.

chiquita928

Oh my, such stress!  I hope everything goes as all the others have said!

Mommyofcarson+1

Thanks guys. No matter the outcome, she is a blessing

nikkiandchris

I am so sorry for this stress. Lots of prayers. I think it's smart to take comfort in your anatomy scan results. I'll be thinking of you as you wait for more results.

oheliza44

Thinking of you and your LO. Hope everything turns out ok. 

acstec1

Hi mama! First, take a deep breath! The quad test is notorious for false positives. About 1/20 women who take this test will have a positive result when, in fact, there is nothing wrong with their babies at all. And with your ultrasound results coming back normal, I would think this is just a false-positive for you. I am an OB-GYN NP and I see A LOT of false positives with the quad screening. Lots of hugs and prayers! 

MrsLa3

Sorry about this stressful news. Hope everything turns out ok.

abmommy15

I can't add anything that hasn't already been said but thinking of you and hope it turns out to be a false positive.

megandchase

Did your doctor give you odds? It's not diagnostic like others have said. Mine came back positive for downs with a 1 in 103 chance. We went to a high risk OB for more tests and he cut our chances in half and said everything looked perfectly fine and he's say our odd are 1 in 206 now. We were given the option to do an amnio but were told it has a 1 in 200 chance of miscarriage so ya we declined. That would mean our risk of miscarriage was actually higher than the baby having downs. 

mj8215

@CarsonsMommy I'm so sorry that you have to go through this. 100% agree with everyone above who said this is just a screening test and chances are high of everything being normal. I'm sorry I can't remember if you already had your anatomy scan - it definitely should help confirm/ rule out spina bifida. 
I had an increased risk of it and have spent the first trimester worrying about it but my ultrasound ruled it out (my ob did an extra one at 16 weeks for that purpose). If you ever want to chat let me know. Hugs!

irishrose54

Sending lots of calming vibes. Sorry you're going through this stress. Since you mention your ultrasounds being normal it's hopefully just a false positive, and as other have noted, they happen often. Hang in there!! 

plumpous

My previous pregnancy was flagged for spina bifida with 1/70 chance. It required further testing. I was advised to get an amnio. Everything turned out fine. 

First, ask for your risk factor to get a better understanding and I do advise getting an amnio to know what is really going on. 

How bad is the amnio? I cried after. It is unsettling. But DH took me to get a burger afterwards! 

Wishing you all the best, hoping it turns out to be nothing. 

plumpous

megandchase said:

Did your doctor give you odds? It's not diagnostic like others have said. Mine came back positive for downs with a 1 in 103 chance. We went to a high risk OB for more tests and he cut our chances in half and said everything looked perfectly fine and he's say our odd are 1 in 206 now. We were given the option to do an amnio but were told it has a 1 in 200 chance of miscarriage so ya we declined. That would mean our risk of miscarriage was actually higher than the baby having downs. 

I was told the miscarriage risk for amnio dropped significantly with advances in technology and training. The official is 1/500 but my genetic counselor said more like 1/1,000.

megandchase

@plumpous that is just the number the high risk doctor gave me. With that as the risk he told me, not getting one in our situation definitely out weighed getting one. Mayo Clinic also says .6% which is about 1/200

Cynth0104

I'm sorry you are going through this. Prayers to you and your family!

OperaSingerMommy

Hugs, mama.

PurplePoppy424

Hugs!

nikkiandchris

Any updates? Did you get an appointment scheduled? I hope they get you in soon, I know the wait must be torture.

Mommyofcarson+1

Thanks ladies. Scheduled for more in depth ultrasound with perinatal specialist tomorrow at 12:30. Kicks are getting stronger and more frequent, so really hoping it is just a false positive 

Edited because I don't know wtf a "kicky" is. Thanks auto correct.

Mommyofcarson+1

Well, we went to the appt yesterday, and DS was quite uncooperative, as his 2nd molars are starting to push up on the bottom and all he wanted was his mommy, but hubby did a great job with him. 

The good news; Spine looks great, completely closed with all vertebrae. 

The not so great news; baby girl's intestines were lit up like christmas, so my blood was tested to see if I am a carrier of cystic fibrosis. If I am, DH will also be tested. If that is positive, by some weird twist of fate, then they will push for an amnio. I really hope this is not the case, as I would be heartbroken to know that my little girl "might live well into her 30s or 40s with all the medical advances"...

They also looked at heart for a loooong time. She has a dilated coronary sinus. So we are scheduled for an echocardiogram on tuesday. This in itself wouldn't pose a big problem, however the specialist said it can indicate other issues. I asked if he saw anything big like holes in the heart, and he said no. Now fingers crossed that all of this turns out well. 

ETA that now I feel grateful that the only issue with last pregnancy was preterm labor 

nktrodden826

Thanks for the update- Praying for you and for good news!

julybaby17-2

Thinking of you and your family. Im
sorry you're going through this and hope everything works out. 

notachanski

Fingers crossed for good news on the blood work @CarsonsMommy.  So sorry it wasn't all good news.

kat0607

@CarsonsMommy ugh, so sorry you're dealing with so many unknowns! I'm glad there was no sign of spina bifida though! Fingers also crossed here, and praying that everything turns out fine

irishrose54

Keeping you and your LO in my thoughts! I hope it turns out okay! Perhaps they are wrong again, as they were w the spina bifida. Hope so!! hugs. 

postywiththemosty

@CarsonsMommy FX for things to keep looking up and hoping for a bunch of overly cautious docs just doing their job!  You and your family are in my thoughts and prayers.