I wanted to post here because I recently had my quad screen return an elevated AFP level returned on my quad screen and I immediately started searching online posts for similiar experiences. However, I didn't find any that really spoke to specific details or next steps. So I'll post what I've learned in the hopes that it will ease the anxiety of others in a similar situation.
So the details for me are that my AFP score came back as 2.47 MoM. Mom stands for Multiples of the Median. The cut off in my geographical area for a normal MoM score is 2.3. I say that because I don't know if different provinces or different states have different cut off levels. They might. Ask! Multiple of the Median is how far your individual results deviates from the median. The median is the exact middle point of all of the test scores. So there are an equal number of results above and below the median.
An elevated AFP is related to potential issues with Neural Tube Defect. AFP comes from two different sources: the baby's liver so everyone will have some AFP in their bloodstream, but it can also leak from an opening in the spine and it is the combination of the normal secretion from the liver plus additional leakage from the spine that they would be concerned about if your AFP level is above the normal range.
From a next steps perspective after you get this result, your physician will order you a detailed/high density ultrasound. According to my genetic counsellor most ultrasound machines in use today are already high density so you don't have to worry about ordering a special ultrasound scan. What you are then looking at in the ultrasound is the spine, belly and brain. If there are problems like an opening in the spine that are either exposed or enclosed by skin the ultrasound will show this (if the baby cooperates and stops squirming). If everything looks normal in the bone structure then you can pretty much relax and be comforted that you are having a healthy child. Seeing your baby kick his/her legs is also comforting because if your baby has anencephaly or spina bifida they may be paralized.
You could also choose to have an amnio. However, the genetic counselor told me that an amnio does not provide more information than the ultrasound. All the amnio can tell you is what level of AFP is coming from the Placenta as opposed to what level of AFP is in the mother's bloodstream. And, if you are reading this post you probably already know that you have elevated AFP levels in your bloodstream. The only additional test they can run from an amnio if the AFP levels are elevated is a test to look for ACHE in the placental fluid. ACHE is apparently only present when there is basically open skin somewhere on the baby i.e. there is an opening like spina bifida in the skin which would normally be closed over. So the amnio can be an additional confirmation of a worst case scenario but... in the case, the amnio can't actually help confirm an OK result (nothing wrong). It is really the ulstrasound which upon showing no evidence of anything abnormal in the morphology (fancy way of saying bone structure) would be the test of choice to set your fears to rest.
In addition to that your baby may have an opening in his/her spine that is actually enclosed by skin but still a problem - in that case the ultrasound would still detect the problem but the amnio wouldn't because no spinal fluid would be leaking from the baby as the area is enclosed.
I also found this interesting where at pubmed
That was an analysis of false positive and false negative results for AFP results. Of 2495 cases there were 57 where the AFP was greater than 3 standard deviations of the mean. Of those 57 cases 30 actually turned out normal. That is 52%!! Of the other 27 there were spontaneous abortions and fetal deaths but only 9 had fetal anomalies like anencephaly or spina bifida. So that means if you are still carrying your child while reading this i.e. he/she is alive and kicking only 15% of the cases with really high AFP levels actually resulted in a living child with something wrong with them. That was a very reassuring study!
There are reasons for having high AFP levels and a normal/healthy child, these include: any bleeding during pregnancy, a more porous than usual placenta, a really off anticipated delivery date i.e. baby is much older than initially thought at time of test as well as twins or multiples.
In the end after a grueling 30 minute ultrasound and 57 separate ultrasound photos the physician determined that my son looks perfectly healthy and normal. There is an extremely high probabilty that anyone reading this will have the exact same experience. My advice would be do your own homework - ask your genetic counselor (to whom you will be refered after your positive results) all the questions you have to in order to help you understand and cope through this stressful time. I'm 85% certain everything will be absolutely fine!
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