* UPDATE * Increased risk of an open neural tube defect - advice please

klbyrnes · July 2014

Maternal fetal medicine called today and said our baby is at an increased risk for an open neural tube defect such as spina bifida. We go in Monday morning to meet with a genetics counselor and then to have a high resolution ultrasound. The ob also recommends an amniocentesis. I'm trying hard not to freak out and to remind myself the test is just a screening test and isn't diagnostic - So I should keep calm and stay positive that my little one is ok. But I was hoping others might have advice or experiences they can share. I'm 17 weeks. Waiting til Monday feels like forever.

UPDATE:

Hi Ladies -- I'm happy to report that after a torturous weekend of waiting, and a very long day at maternal fetal medicine yesterday, we found out that our little one is healthy! There are no signs of spina bifida or any other neural tube defects. They don't know why my AFP level is elevated but they will continue to monitor me and the baby closely because they suspect that the cause might be my placenta not functioning at 100%. We have another scan next week and then will go every six weeks for a growth scan until the last month. At that point, I will go weekly for scans and non-stress tests. In the end it was a very emotional roller coaster weekend, but I'm so happy to know the baby is ok. Also, we found out that we are having a little boy so we too are joining team blue! Thank you to all of you who helped me this weekend with your thoughts, prayers, advice and kind words of encouragement!

caden1206 · July 2014

I am sorry you are dealing with this extra stress. I hope and pray all.is ok. Maybe just try to take one step at a time. Get the ultrasound and then discuss the necessity of the amino. Good luck. I hope this turns out well.

beachy6 · July 2014

I'm sorry you have to deal with this. My husband has spina bifida. He has a very mild form and it only makes his back hurt from time to time. As a kid, it didn't bother him at all. In fact, his parents didn't even know he had it because the tests weren't used back then. He found out as an adult when he was having back pain and needed an MRI.

I guess my point is that even if your baby does end up having the diagnosis, the severity ranges and isn't always as serious as we automatically think. I pray that your baby is okay and that if there is something they find that it is a very mild form.

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Abeja1226 · July 2014

I had the exact same scare my last pregnancy. I met with the genetics person and had the level 2 ultrasound. The u/s did not show any abnormality, and I didn't get an amnio. Because there was no abnormality on the u/s I was labeled "unexplained elevated AFP" and then put on a high risk plan which included twice weekly nsts starting at 32 weeks as well as bpp's, growth ultrasounds, fluid checks etc. It was draining and exhausting. My baby boy was and is perfect. And that is why I will never do another screen again: unnecessary worry. If it helps everyone I talked to IRL with the same test result had a healthy baby with no NTD. Hugs, I know how you're feeling and it sucks!

Abeja1226 · July 2014

Also the level 2 ultrasound if normal will rule out spina bifida with an accuracy of 90%, where as a normal amniocentesis will rule it out with an accuracy of 99%. However, like I said if your u/s is normal you will have a lot more ultrasounds and every additional ultrasound that is normal further decreases the chance. And then if the baby actually does end up having spina bifida and it wasn't seen on any of the ultrasounds it is most likely (almost always) a very mild case such as what PP said her husband has, and most likely wouldn't be debilitating. I just couldn't bring myself to do the amnio, I was too scared. I did worry the rest of the pregnancy though.

Sweetsix06 · July 2014

Hugs to you. You and your family are in my thoughts and prayers.

JulieSC81 · July 2014

Not trying to jump the gun but just to offer possible advice...i was told by someone i know (whos child has spinal bifidia) that they can actually perform surgery while you are pregnant? No idea how accurate that is. I just want to say that I believe there are often options to help. I hope that all goes well and tests come back normal. And remember that many test results can be wrong. Good luck

bjenny · July 2014

Hang in there! Here's hoping your weekend goes quickly and you get the answers you need. Best of luck to you!

littleboyermoose · July 2014

My quad screen came back this week with a slightly elevated AFP. Is that what led your doctor to believe you have an increased risk? Do you know what your AFP level was?

PP is right. Surgery can be performed during pregnancy and post-partum. I think that depends on the severity. I hope that your doctor is just being overly cautious.

AllTheTeaInChina · July 2014

kaylam714 said:

klbyrnes said:

Maternal fetal medicine called today and said our baby is at an increased risk for an open neural tube defect such as spina bifida. We go in Monday morning to meet with a genetics counselor and then to have a high resolution ultrasound. The ob also recommends an amniocentesis. I'm trying hard not to freak out and to remind myself the test is just a screening test and isn't diagnostic - So I should keep calm and stay positive that my little one is ok. But I was hoping others might have advice or experiences they can share. I'm 17 weeks. Waiting til Monday feels like forever.

An amniocentesis actually is considered diagnostic according to what my MFM and OB doctors told me.

------
I think she means the test she had done, most likely quad screen, is the screening test. Her OB recomends the amino for diagnosis.

OP, good luck with the ultrasound Monday.

Eta-- quote fail

rshamos · July 2014

No experience. Just hugs! I hope all goes well.

klbyrnes · July 2014

Thank you all for your thoughts, prayers, hugs, and well wishes. I'm just trying to distract myself until Monday morning, and keep hoping for the best. Your stories and advice were helpful and reassuring, and I'm very grateful for you support. I will update you next week when we know more.

klbyrnes · July 2014

Looks like we can go celebrate now with the good news that our baby boy is healthy!

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abcmom12 · July 2014

congrats on the good news!

jennielee123 · July 2014

congrats on the great news!

Eora3 · July 2014

This exact same thing happened to me with my older son. We did all the extra ultrasounds and tests and everything looked good. When he was born, he had a deep dimple at the base of his tailbone. It never caused any issues but it makes me wonder if it just closed up a little later than normal. The doctors take a look at every check up but honestly, you can't even see it now. He will be three in January and is advanced on all developmental markers.

I am so glad your tests turned out alright. These kids find ways to keep us on our toes!!

klbyrnes · July 2014

Eora3 said:

These kids find ways to keep us on our toes!!

They sure do!!!!!!!!!!!!!!!! My OB said jokingly that boys are move drama inside and girls are more drama outside. Whatever might be true about this, I hope the drama has ended for now!