AFP Prenatal Test

Archived Q&A and Reviews

AFP test came back positive

Feb 2004

My husband and I are really freaked out right now. We just got a call from the nurse practicioner at my Dr.'s office. The results from the AFP test came back positive. The normal cut off is at 2.5 and mine was at a 2.61, according to her this is really slight and we should not be that concerned. Still, hearing anything is going wrong still scares us to no end. I tried to schedule an appointment for the expanded AFP testing and ultrasound, but could not find any for the same week. I could only find one for next week. To compound the feeling of helplessness, I called and left 3 messages for the Dr., nurse practicioner, and physician's assistant (on 3 separate days) to find out if this was an emergency and I needed to get an appointment for this same week. I have yet to hear from them. Anyone else out there with similar problems/experiences? My prior experience with sudden and urgent health problems, with a differnt doctor, is that he will sit with you in the exam room and call around to find an available appointment for that same day or next. Is this common for AFP testing? HELP! sonia

I'm sorry to hear about your afp results but there is a fairly high rate of false positives as I understand. My afp test came back high my first pregnancy but I was sent into an ultrasound that day. You should really get in touch with someone to get an ultrasound sooner. The anxiety of not knowing and fearing the worst should not be something you have to endure for that long. I felt like I couldn't breathe when I got the results and wrote the whole pregnancy off right there. As it turned out my little one was fine and was in fact two little ones which was the reason for my elevated reading. Don't take no for an answer and I hope you can find some peace in knowing that there is a good chance that it is just a false positive. Best of luck, c

You have not been given enough information, first of all. The AFP test screens for several things, which can generally be categorized as either neural tube defects (e.g., spina bifida, anencephaly), or chromosomal defects (e.g., Down syndrome). You need to know in which category your results came back with an elevated risk, because if you want to have any further testing done, your best options are different for different things. Second and very importantly, the AFP is a screening test, not a diagnostic test. What this means is that it can give you an idea of the *risk* that your baby has a given condition, but it cannot tell you *whether* your baby has that condition. ''False positive'' results (where the AFP showed an elevated risk, but the baby is entirely normal and healthy) are very common. Given your anxiety about this, your next step should be an appointment with a ''genetic counselor''. This is a person who can explain the meaning of your results to you and describe your options for follow-up tests. No, this isn't an emergency, although IF you do choose to have an amnio, for example, you may need an appointment relatively quickly depending what week of your pregnancy you are in now. Best of luck to you! anon

I'm sure you are going to get a gazillion responses to this. My AFP test also came back with elevated levels and I was told we had an increased risk for a baby with Down Syndrome. I felt so much pressure to take that silly blood test. I had decided against it, then after we saw the baby on the ultrasound for the first time, I was so high off of feeling happy that I said, ah, let's just do it. I think that was a huge mistake and I'd never take it again in future pregnancies. The false positives are so incredibly high. And the negatives do not necessarily mean the baby is ''healthy'', either. Anyway, we said no to the level 2 ultrasound and/or amnio. At every doctor's visit (actually, I saw a midwife up until I was 2 weeks overdue), we were asked why we declined further testing and basically we! re pressured into feeling so nervous. My answer was always, what's the point? We would never end the pregnancy due to a birth defect, so why the unnecessary intervention? (Amnio's are certainly not risk free, as I'm sure you know- if not, do some research.) My husband and I know that with or without the AFP test to detect, we have the chance of having a baby born with a birth defect. My father (an MD) gave me the best advice, stop taking tests and start enjoying pregnancy and preparing for a new baby. I pass that advice along. We now have a 9 month old, perfectly healthy baby girl. You will too!
Stop Worrying, Start Enjoying!

My advice to you is relax and take a deep breath. As I recall from the research I did when I was first pregnant, the AFP test is very inaccurate -- that for the vast majority of women who receive a positi! ve, there are actually very few real problems. I've had several friends who got a positive result from an AFP, were worried sick for weeks while they got an amnio, then waited for the results, to finally find out that all was well. Which is probably why your doctor is being so blase about the whole thing...

My heart really goes out to you. We had an AFP test come back with a ''false positive'' (thank god) for DS so i understand the stress and pain you're going through right now. I'm so angry that so many of us have to go through this time and time again. I'm sure you're aware that MANY MANY AFP tests are inaccurate. My ob's RN phoned to tell me that the test came back positive and that they had arranged for my husband and i to go to Alta Bates to speak to a genetic counsellor, have an ultra sound and (if we decided) an amnio. I was told on Tuesday and i only had! to wait 2 days for my appointment. I'm amazed that your DR/OB has left it to you schedule appointments at a time of immense stress and worry, and have failed to return your messages. Sorry to hear that. To address you question - is this common? All i can go on is my own experience and my OB's office arranged everything for me while Dr Levinsky (my terrific OB)returned my calls herself when i had any questions. i could be wrong but i'd have thought this is standard practice.

I'm sure this will all be for nothing but try to keep busy these next two weeks or so while you have to wait. As i say, we went through the same thing and we now have a healthy baby boy. i decided to have an amnio despite the risks involved and the staff at Alta Bates were terrific. Good luck :) Becky

High HCG level in AFP pregnancy test

July 2003

I was told my AFP screening test came back with elevated levels of HCG hormone. The doctor said I will need careful monitoring throughout my pregnancy with ultrasounds and heart monitoring as this can indicate a possibility of lagging fetal growth (which could necessitate a pre-term delivery), placental abnormality or toxemia. Has anyone out there had this diagnosis with any of these outcomes? What has it ment for the health of your pregnancy and child? Any specific action I should take? And how do I calm the worry?

Four things

1) A great acupuncturist, while it can eat up just about your whole life to do this, it is the best way to prepare. Angela Wu in S.F. has a practice committed to helping with all kinds of infertility problems, including for your husband. Very intensive but that is why people go to her.

2) A support group is essential. Look up Fortility on the web or join something locally if you have time. The studies that were done at Harvard also insist that some form of relaxation practice along with a support group are part of a successful outcome.

3) Consider ovum donation or adoption. No one needs a family more than a child without parents.

4) Consider IVF after at least 6-8 months of acupuncture. anon

I had a very high hcg test during pregnancy which turned out to be indicative of all 3 of those conditions you listed- preclampsia, placenta problem, and fetal growth issues. I did have a premature baby who spent quite a while in the hospital and who is now 3 years old and basically ''normal''. Get a good Dr.- Dr. Maier (kaiser walnut creek) is great. Take it easy- I got put on bedrest at 22 weeks and otherwise there weren't any magic cures. Good luck! and feel free to write with any more questions or if you need support (by the way I had a lot of bleeding the whole time during the pregnancy). Lee

I had the same diagnosis with my first pregnancy, and I ended up having a perfectly healthy baby girl exactly on my due date. So you may just have high hormone levels (for me, this coincided with horrible morning sickness). I had ultrasounds the last eight weeks of the pregnancy--it was nice to see the baby moving around, however, I think it was completely unnecessary. Try to remember that some of these tests, the AFP in particular, come up with markers that usually don't mean much in the end. Best wishes for your pregnancy. another high HCG'er

I had the same thing with my pregnancy and from 32 weeks had to make weekly trips to the hospital for additional testing. One test (NST or non-stress test) looked at the baby's activity level and heartbeat and the other was an ultrasound that measured the level of amniotic fluid. They usually took about 90 mins to 2 hours including waiting time. I looked forward to the tests as a way to connect with the baby and make sure she was doing well. The tests never uncovered anything serious, though one time I was told that the amniotic fluid was low and that I needed to increase fluids and get more rest.

Increased HCG levels in early pregnancy can be associated with more problems later, including losing a baby. But, from what I was told, this is only a *slightly* elevated risk that the testing is trying to negate. Don't worry about it too much because most likely everything is going to be fine. In my case, I ended up having a completely healthy, normal weight baby girl at 38.5 weeks. Been there before and everything was okay

My HCG levels were also found to be elevated when I took the AFP, and I was told that I might need to be monitored more closely as a result. It turned out that the doc who did my amnio authored a large study on this same topic just a couple of years ago, so I asked him about it. (David Walton at Kaiser, study was published in the NEJM, I believe.) His conclusions were that while there is a slightly elevated risk of complications (low birthweight, stillbirth) associated with high HCG, it's not considered any more statistically significant than other risk factors (being a member of certain ethnic groups, for example). His opinion was that as long the pregnancy was progressing normally, there was no need for high risk treatment. I'm almost 31 weeks now and so far everything's fine.

My research at the time repeatedly cited this study as the current wisdom on the topic, so I've chosen to not stress unduly about it. I'm also not convinced that heavy monitoring is of actual benefit to an otherwise low-risk pregnancy. (You should be watched for toxemia and fetal growth regardless, but that goes for any pregnancy!)

Best of luck to you. ATY

Elevated AFP test results

May 2003

Hi everyone, I'm very stressed and nervous - I'm on my 2nd pregnancy and just got elevated AFP test results back. It looks like there's risk for Down Syndrome. I was also diagnosed at the ultrasound with a Choriod Plexus Cyst in the baby's brain, which in very rare cases is indicative of Down Syndrome. I have an amnio coming up to find out for sure, but the results take weeks to come back. What I'm hoping for is some support from other parents out there who have had these kinds of scares and (hopefully) have had everything turn out OK. I cannot sleep at night worrying and wondering about this. Does this happen often? Do false positives happen all that frequently? Even with a secondary 'soft' marker? We have no family history of any birth abnormalities and I'm going nuts trying to figure out what kind of changes this will bring to our lives if my fears turn out to be true. Needing help

I went through this with my second pregnancy with the nuchal screen test and another soft marker for Down Syndrome. I'm sure you know the AFP is known for many false positives. In our case everything turned out fine but the wait was agonizing. Things that helped were support from key people, we told close friends who would listen and understood how important this was. Having a project to work on...I organized my sons soccer team while waiting for the results. Something fairly mindless but involving ... I also researched Down syndrome some, enough to try to make a preliminary decision that we would continue the pregnancy if that were the case, though I'm not sure this is something that would work for everyone it helped me to feel that I could cope with the worst case if it came to that. My husband and I had some talks about what it would be like to raise such a child. However my gut feeling was that the baby was ok and I decided to focus on that as much as I could, really thinking loving, positive thoughts helped me, as new-agey as it may sound... all the best

I'm sorry about your AFP results. I know how devastating this preliminary result can be, having experienced this just a few months ago. I was told that my risk for DS, based on my AFP score was ''greater than 1 in 10''...more specfically, higher than that of a 50 year old woman. The medical professionals who interacted with me prepared me for the worst case scenario based on my specific test results. I was 31 at the time. Thankfully, the Amnio showed no genetic defects whatsoever, which ruled out DS.

But the few weeks of waiting was extremeley difficult. A lot of crying a lot of breaking down. Here is my advice

1) when going for your amnio, ask for the ''fish'' (sp) test which costs an additional $200. While the amnio tests all genetic markers, the fish tests only downs and takes only 3-4 days so you get results for the specific concern sooner. This doesn't rule out DS caused by trisomy...or other genetic defects so you still have to wait for the amnio results. But the results from the fish test is highly indicative of the amnio test.

2) I also told most of my family and many of my friends. I felt I needed a lot of support, and mostly, a lot of prayers. I attribute the final results to prayers. Unfortunately, I had a sister who was opposed to terminating pregnancies under any circumstances, so you have to be careful to get support from people who will not voice personal opinions on what you should do. this adds another level of stress that is unbelievably difficult to bear. (Whatever you choose to do is right for you.)

3) My husband and I discussed at great length what we would do in the event the results showed DS. We researched DS on the internet and learned as much as we could about it. In other words we prepared for the worse but prayed for a healthy child.

It is understandable to be depressed, concerned and anxious. Get as much support as you can, and allow yourself to cry and to express your sadness for the necessary catharcic release. And do pray and ask for prayers from your loved ones. I will keep you in my prayers. Feel free to email me for any reason. teri

Hello. I am sorry for your anxiety and have been in your shoes. I also received a false positive high risk for Down's Syndrome AFP result last year while pregnant. I participated in the FASTER Trial (University of Colorado). I was a nervous wreck while waiting for the amnio results and could barely function out of fear. I was thrilled to find out that the chromosomal analysis was normal (and that I was having a girl, who is absolutely perfect). I have a few friends who also got a false positive and in every case, they were having a girl. Maybe it's something about those girl hormones. The actual probability of anything actually being wrong is quite small. Hang in there and good luck! calgal

There is a way to get results of the amnio quickly (2 days). I don't remember the name of the test exactly, but ask your OB about the FISH procedure. Basically, they take one extra tube of amniotic fluid (no additional needle pricks required) and send it to a different lab that performs a procedure that is much quicker although can only rule out something like 99% of the Downs cases. They can still send another tube to do the regular amnio analysis. anon

Please try not to lose sleep over your AFP result. The AFP is just a screening test that allows the doctors to positively rule out some risks for some babies....its not an indicator that other babies are at increased risk. There's no ''positive'', only the absence of an absolute ''negative''. The cysts and soft markers you mentioned can also appear fairly frequently without any consequences. For some of us (40+) there was no AFP, because there was statisticallly no chance of it comng back ''normal''.

You might find tremendous comfort in visiting the pregnancy messageboards at iVillage.com. Not only is there a board for women awaiting test results, but for those expecting in the same month as you, or almost anything you can think of. Especially with the Expecting Club boards there is a lovely sense of community that continues, giving you access to a huge well of peer support and information that can continue for years to come. Good luck, hope you get some sleep soon! Heather

I did get a positive AFP test back indicating that my daughter had down's syndrome. My doctor left a message on my answering machine at 445 on Friday, of course not able to talk to her about it till Monday and because I was undergoing fertility treatments (so I knew the exactly when I concieved), already had an ultrasound early on and knew there was only one baby in there, I was lead to believe the chances of her having down's was about 1 in 5. It took about 2 weeks to find out everything was okay. It was an awful time and I really feel your pain. I do know that the test is 99% inaccurate, giving false positives and I wouldn't be surprised if you get an overwhelming response from women who have had this test come back positive only to give birth to a healthy baby, as I did. I personally think it's a terrible test, indicitive of the impersonal medical profession that for some reason thinks a 99% false positive rate on a prenatal test has no negative impact on all the families that have to endure this kind of news, almost always for no reason. I'm still angry about it and my daughter is over a year old. I really wish the best for you. I have no great advice on how to get through this while you're waiting, I too was a mess, I just wanted you to know there are alot of us out there who have been where you are. Take Care erin

I too had AFP results that indicated a worrisome risk of Downs' Syndrome (my risk was greater than 1-in-10). An amnio later revealed that I am carrying a healthy baby girl. My strongest recommendation is to pay the roughly $200 to have a FISH analysis run, which will give you results in only 2 days. This saved me many sleepless nights. The medical care professionals didn't offer this test, rather I had to ask for it (and pay for it). The FISH results are followed about 2 weeks later by the conventional analysis results. The FISH results are very rarely wrong, but are not considered as definitive as those from the conventional analysis. Anon

I feel for you...we had the exact same thing five years ago AFP results suggesting elevated Down's risk plus cysts in the brain showing up in ultrasound. My five year daughter was born completely normal and is now as healthy and smart as a whip. It was very scary at the time, though, especially because we ultimately declined the amnio, feeling that maybe we could live with Down syndrome if that's what nature handed us (and I was worried about miscarriage risks of the amnio). My OB didn't warn me (and probably nor yours you) about the huge number of false positives that show up in AFP, nor was she good at interpreting the risk based on the results. The ultrasound technician who found the cysts didn't seem to know much about what they meant other than a correlation with genetic troubles. Eventually we were refered to a compassionate genetic counsellor and doctor who explained the high incidence of false positives, and explained the ''elevated risk'' of Down's was more like 1 in 100. Also, she told us that actually the most recent research shows the cysts regularly form in normal babies and receed but were correlated with genetic problems when they were first detected only a few years before most likely because people with higher chances of genetic problems (eg, because of age or family history) were being examined much more often by ultasound. Don't worry! I suspect your baby is fine! We decided to decline AFP tests in future pregnancies. Karen

My situation won't apply directly to your case because you have already decided to have amnio, and because we won't know until our baby is born in a few months if he or she has Downs, but it may be of interest to others.

I'm 34, and my AFP showed about a 1/100 risk of Downs. Genetic counseling explained that the ultrasound most often couldn't detect Downs, but occasionally there are indications. We were told a totally clear ultrasound would only raise our odds to 1/115 or so. We decided to only have amnio if ultrasound showed futher cause for concern, which it did not.

The friends who we shared this with who are also medical professionals tended to assume that we declined amnio because we had already decided we'd keep the baby no matter what. But that wasn't it - we didn't go through the process of making that hard decision, and we would like to know if our baby has Downs or not. We just felt the risk of miscarriage with amnio was too high (between 1/200-1/300 at this clinic). It wasn't a strictly rational choice obviously the chance of Downs for us is higher than the chance of miscarriage, but somehow 1/100 for Downs felt low, but 1/200 for losing the baby seemed really high! It just felt wrong to invade the womb with a needle unless it seemed really likely there was a problem.

When we walked out of the clinic having made our choice and having seen the ultrasound, we had mixed feelings I felt about 2/3 glad we'd done what we'd done, and 1/3 regretting passing up the chance to know for sure. My husband felt more like 50/50.

So now we're waiting for the birth, and after the first few weeks, the stress of it faded and we rarely think about the chance we could have a baby with Downs. I haven't done research on what having a Downs baby would be like, because I still think the chance is very small, and I don't want to make myself anxious. If anyone who has been in my shoes has a strong recommendation that we should prepare, I'd be interested to know.

When we had to make our choice about amnio I would have liked to have seen stories from more people like us who chose not to have amnio not because they knew they'd keep the baby no matter what, but because they were uncomfortable with the risk. But I saw little of this out there - that is why I thought I'd post my story.

- looking forward to meeting my baby

Hello, I'm the person who posted the original request for advice and I'd really like to thank everyone for their encouraging words and personal stories. Even with two separate markers indicating Down Syndrome on prenatal tests(AFP and brain cysts on the u/s), my amnio came back and showed that my baby is free from any chromosomal issues. I was concerned about the risk of miscarriage with the amnio, but really needed to know. I had absolutely no problems with the amnio - no cramps, no bleeding, nothing. It's worth it to have the anxiety taken off your shoulders.

I've heard from many sources that an inaccurate AFP 'positive screen' for DS is more common in female fetuses since the blood proteins are different. Best of luck to anyone else in this position, it takes a lot out of you.

Extremely Relieved Mom