Genetic test results

klshady

I found out this week that my blood results showed an increased chance of a neuro tube defect. They are sending me to a perinatologist for an ultrasound and possibly an amnio. Has anyone else been through this that could calm my nerves a tad?

biancakoz

We went through this a few weeks ago.  My OB called the night before my 18 week sonogram to tell us that we were at an increased risk for ONTD (1/160 chance).  We still went in for our sonogram at the office the next day, but she wanted us to see a specialist for a sonogram and consult.  At our in office sono, the technician didn't see anything (and she is trained in high risk and looks at these things often).  My doctor told us after the sonogram that everything looked good and my husband asked if we didn't have the blood test, would anything have stuck out to her and she said no, that based on the sono alone, everything looked fine.  She said my levels were slightly elevated (I don't know what my exact levels were), as she considered anything under 1/200 as at risk.  She said she still wanted us to see the specialist, so we went at 21 weeks.  They did another sonogram (it took an hour, maybe a little more), and looked at everything.  I asked the tech what other markers they look for with an ONTD and she said the spine (obviously), the size of the head and the shape, and the brain.  After the sono, the specialist came in and said everything looked good.  He didn't see anything, but a sonogram is 93-94% effective at detecting a defect.  He offered an amnio that afternoon if we wanted one, but we declined since he said that at most it would add a percentage or 2 more and the risk from a complication was the same or more than the risk of an ONTD.  I did have a low lying placenta that I have read could skew the results of the blood test.  I asked if there was an ONTD if it would affect the baby and he said that if there was, it was slim to zero risk of it impacting the baby neurologically.  Because of the increased levels though, I am at an increased risk of hypertension and pre-eclampsia, so I am having 2 growth scans (one at 26 weeks and another between 34 and 36 weeks) to make sure there is enough fluid and the baby is growing ok and just monitor my blood pressure.  It's scary and it was a rough few weeks, but I'm sure everything will work out!  Good luck and keep us updated! 

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Chryssa-72603

I just replied to someone else's post about the same thing.  I just went through this yesterday, so I definitely know how you feel.  Here is a copy of the reply that I wrote for her:

I just went through this as well.  From what I've heard, the rate of
false positives is very high.  I had to force myself to not be too
worried all week until I went for my ultrasound yesterday.  It turns out
that the baby is totally fine.  The genetic counselor, sonographer, and
doctor were wonderful.  They must have taken at least 200-300 images
during the ultrasound.  They were very informative and super thorough. 
The genetic counselor went over everything with us before the
ultrasound, and she was very reassuring.  Of course she couldn't promise
us that nothing was wrong, but she was very kind about it all and
explained all of our options thoroughly.  Even before the happy results,
I started to feel much better after talking to her.  Even though the
sonographer can't really say much, she reassured us almost immediately
that everything looked ok to her.  Even we could tell that nothing
looked abnormal.  They were looking for signs of spina bifida, which
would have been very obvious on an ultrasound.  The appointment lasted
about 2 hours!  The awesome part about all of this is that we got to see
a LOT of the baby!  Of course I can't tell you that you will definitely
have the same results, but I hope that you will also have a great
medical team to help you through (and obviously I hope that yours comes
out like mine did!) 

pixieprincss

I had high AFP with DS1. We declined an amnio because of the risk of loss. After our level-2 ultrasound (anatomy scan) our risk factor went way down. He was born seemingly perfectly healthy. As he grew, we could identify a tiny dimple on his back that might have indicated a small NTD that closed up between the AFP test and the ultrasound.