Alpha-fetoprotein test accuracy?

[nimrod]

My wife and I are expecting our second child. My wife is 39 years old, which puts her in a high-risk for potential complications. Our first diagnostic ultrasound showed a measurement of the nuchal fold to be within normal limits. However, the AFP blood test came back with two abnormal protein levels. The perinatologist says this puts us at a risk of 1 in 50 that our child will be born with Down's Syndrome, or some other genetic abnormality. The AFP test was performed at thirteen weeks, although I've seen references indicating the test is most accurate between 15 and 18. Of course, this has us concerned. We have an amnio now scheduled for mid June. I'd like to know if anyone else has had similar experiences with an abnormal AFP, and how things actually turned out.

 

[wackymother]

I had a low alphafetoprotein test in 1990, when I was pregnant with my first child. I was 28. Then I had another one, which was even worse. At that time they were concerned that low AFP meant possible spina bifida.

I had an amnio and the results came back absolutely fine. My youngest child just turned 7 and my impression is that the AFP tests have improved a lot, but the amnio is still the meaningful test--the AFP and other early tests are just meant to screen.

The former fetus is going to be 16 in two weeks, and she is extremely healthy, smart, and quite good-looking if I do say so myself.

Good luck at this happy/stressful time!

 

[SOS8260456]

I had this test with my first two children with no problems, so when they asked if I wanted it for my 3rd I said no problem. Well, it came back that their was a strong possiblity she would be born with Downs Syndrome. Of course, they also told me that the test was not very accurate. I did other testing (forget what there names were) that came back with the same results. Because I did have problems with low to very little amniotic fluid levels there was a higher risk of miscarriage with an amnio which they said would be the most accurate test. We were driving ourselves crazy trying to make the right decision. We did decide to do the amnio and those results told us everything was fine.

The main reason we decided to do the amnio was because they said with Downs Syndrome babies there was a higher risk of heart problems and that by knowing up front the appropriate specialists would be on hand at delivery and the delivery would be in Philadelphia rather than NE PA.

Our daughter just turned 6.

I know these tests are suppose to help, but I think they can really drive a person crazy.

Good Luck!
Lisa

 

[kapear]

I am pregnant with my 4th at age 36. I had the AFP done with my previous 3 pregnancies but declined it this time. I 've read that is becomes less accurate as a woman gets older. (It has a high percentage of inaccuracy as it is.) I did opt for the first trimester screening u/s and blood test at 12 weeks. Aside from the nuchal fold, I believe there are some other markers that they can look for. I think one has something to do with the nasal bone. I would try not to worry too much. The amnio will give you a definite answer.

 

[hibbeln]

All our friends recently (mid to late 30's) have ended up with high AFP levels on that taste. Then they check the nucchal lines, ears, etc. and scare the pants off them saying "it looks like your baby has Down's Syndrome"....and then none of them did. So don't worry about it until you have a definitive answer.
By the way, one of my kids has a very severe heart defect.....but was never picked up on the prenatal exams (ultrasounds) or even the neonatal exam....they didn't realize it until he "crashed" at one day old and almost died! Just when you think they have it all figured out.......those darn kids can still surprise you!

 

[calgal]

First trimester genetic screening such as your wife's testing is designed to be "sensitive" (miss very few cases that have the diagnosis). To achieve this sensitivity, "specificity" is sacrificed (the chance that a positive screen really indicates the diagnosis). That is why a 1/50 risk of Down's syndrome is called a positive result. Based on your wife's testing, there is a 98% chance that Down's Syndrome is not present, a 2% risk that it is present. Amniocentesis is very accurate for definitive diagnosis, and is a good idea at this point.
Nasal bone visualization can be added to the first trimester screen, but is not uniformly done and is technically a bit tricky. Second trimester ultrasound looking for certain markers can be done, but as a screen for Down Syndrome, it is less sensitive than the test your wife had. Expanded AFP testing between 15-20 weeks likewise is not as sensitive as the first trimester screen.

 

[chemteach]

More than 9 out of 10 "positives" are false positives with the AFP test. The test puts many couples with very healthy fetuses at high alert and worried during pregnancy. Try to focus on the 49/50 chance that the baby is perfectly healthy until you get the amnio test results.

If you can get the 4 dimensional ultrasound, your doctor may also be able to dissuade your concerns. We had a difficult pregnancy due to prenatal testing issues, and our perinatologist (I think that's what he was called) told us the baby looked perfectly healthy on the ultrasound. Baby Adam was fine and is now 14 months old.

Edye

 

[michelle]

My AFP was also not what we had hoped for, but I had already had a CVS done at that stage, so we knew that the baby did not have any genetic problems, and all turned out fine.

(I would say this, however: a friend of ours, who has a Downs child, advised me to make any decisions BEFORE the amnio test. I am very grateful that both my babies were okay, so cannot really comment on the advise, but thought I would mention it anyway.)

I hope everything turns out fine for you!

 

[mikey0531]

I had the test too. It showed an elevated level for something -- can't remember what it was. Anyways, it indicated a chance of Down's syndrome. I was 43. They also did an ultrasound that measured all the other indicators for Down's syndrome -- can't remember what they all were either. But, they measure bone length -- one in the arm is a good indicator -- and they also looked at something in the neck. Anyways, everything they checked with that ultrasound came back normal. We knew we'd be keeping the baby no matter what an amnio showed, so we didn't get one done. We also met with a genetic counseller.

Anyways, as we speak, my little girl is getting in trouble with her dad for trying to get outside while it's raining. She's an active toddler and is perfectly healthy

Debi

 

[sfwilshire]

When our tests came back positive for Down's, some of the medical pros we visited assumed that we would choose abortion. That wasn't the right answer for us. It was, however, a comfort to know in advance of the birth. Extra medical attention was onhand at the birth for any special needs the babe might have.

I have a 49yo SIL with Down's who is well loved by her family. Our own son, now 7, is the light of our life. There are many challenges and concerns for the future, but I also have lots of concerns for the other three "normal" kids.

There is a lot of support out there for children with challenges. In our state, they are particularly supportive before the child reaches age 3 and gets put into the public school system. After that, it's a bit hit or miss.

Also, be aware that there are many levels of disability with Down's children. Many are less severely affected. My other kids are tall, so we were advised that our youngest would be "less short" than a "typical" Down's child. The others are high IQ, so our "special" son will likely be high in the IQ range for Down's. And so on. So far, he is doing quite well and his greatest problems are with speech and a few minor things.

Best wishes to you with your child, however he/she is abled or disabled.

Sheila

 

[chemteach]

There is a really wonderful book entitlted "Expecting Adam" about a couple who find out they are expecting a child with Down's Syndrome and how the community around them expected them to have an abortion and they chose not to. It is a very good book to read, particularly I think for anyone considering doing genetic testing. It gives you another view into society's perceptions of disabilities and what people can learn about themselves and society when a family has a child with a disability.

Edye

 

[Emily]

I had a high AFP with my 4th pregnancy. I was 38 yo. I went to genetic counciling where they described everything that could possibly go wrong and really destroyed much of the joy of my pregnancy. I opted out of the amnio after I found out that they wouldn't, couldn't do anything with the information other than "know". They wouldn't treat me any different by not knowing. I had identical twin girls and they are very healthy.

I had an abnormal AFP with my 5th pregnancy and I was 41 yo. They saw a type of cyst on the brain indicating downs syndrome and informed us our son would have downs. I was forced to have a c-section at 30 weeks - my youngest son is now 7yo and is perfectly healthy - no downs syndrome. He recently had a followup mri to make certain that the cyst had not reappeared and its not there.

My earlier pregnancies - without all this information - went much smoother. The ones after 35 were plagued by information and testing overload.


Emily

 

[Gadabout]

I chose to have no genetic testing. To me it was pointless, when 1), I was not going to have an abortion, and 2) knowing a few months ahead of time was not going to help anything--you aren't talking about conditions that can be "fixed" here by surgery in utero, for example.

I think testing unfortunately is being "pushed" onto people in order to 1) make more money, and 2) encourage more abortions of people who are seen to be "less than perfect". What happens when it is taken to the extreme and someone aborts simply because they don't like eye or hair color (someone fooling around and being afraid of being found out)?

(don't mean to be political here at all, just wondering where genetic "perfection" is going to draw the line in future)

 

[turkel]

I am a labor and delivery nurse, had a positive AFP about 6.5 yaers ago. My advise is have the amnio and then relax. It usually takes morethan a week to get the final results, which I know can be a stressful time. I usually tell people not to worry unless you actually have something to worry about. When the perinatoligist does the US prior to the amnio they look for specific signs of a downs baby this usually can provide some early reassurance. As stated earlier most AFP's show a false positive. Take a deep breath and proceed with your test most often everything will be fine. On a positive note if you want to know the sex of your child prior to birth the amnio is 100% accurate. Good luck, and my amnio was negative for Downs My Jackie is 6.5 and a pistol Pam

 

[nimrod]

Thank you for all the responses and show of concern. We have an amnio scheduled for 6/14. We'll keep you all posted when we get results. On another note, last Friday evening, my wife experienced a gush of vaginal bleeding after using the bathroom. She indicated it was enough to soak multiple pads. She had an ultrasound the next day, which showed a normal heartbeat, and normal growth and development. Her doctors had no explanation for this event. Now, a week later, she continues to have spotting on a daily basis. Has this happened to anyone else?

 

[Patri]

I had my last child at age 39. I did not have any testing. He's healthy and spoiled, so I'm trying to break him of that. The 'high risk' you speak of is really not that high. Children with disabilities come to moms of all ages. Can't offer any advice, but hope your baby is healthy and you don't stress out over this.

 

[hibbeln]

We were sitting around the dinner table with my BIL/SIL and they were talking about the process of adopting their kids from Russia. They kept going from orphanage to orphanage, meeting and rejecting kids. They expressed anger that they were shown kids with "heart defects and other problems when we told them we didn't want a kid that wasn't perfect!" I almost laughed, because my child sitting beside me that has a severe heart defect is probably about the most perfect child ever! (mother's bias, of course). Granted, for 3 years just keeping him alive and developing normally was an enormous struggle, but anyone with a child that has any kind of "defect" or "disability" can tell you that they not only impact your life negatively, but also very positively! Because of him, we had driven home very quickly what is and isn't important in life. I could walk away from my house, my career, every dime I have....happily!.....if I had my children and husband at my side. We rearranged our lives to accomodate having a special needs infant, and found our family life much richer for it. Before he was born, if you'd asked me if I WANTED a child with a physical defect I would have said "No way!", but truth is, his physical problems are possibly the best thing that ever happened to our family because of the impact they had on our outlook on life.
If you're looking for a "perfect" child, you'll be looking forever. But if you sit down and hug your child tight, you will realize that they've been perfect all along.

 

[calgal]

Expended AFP testing must be offered to all pregnant women 15-20 weeks gestation in California by law. To fail to offer it would be to violate the law. The ordering MD makes no money by ordering the test. The state of California assumes all lab costs and costs of followup. The choice of whether to have the test is up to the pregnant woman. The consent or decline form she signs is completely neutral. To say that testing is being "pushed" onto people in order to make more money is not based on fact.

 

[turkel]

I had the same exact thing happen with my pregnancy where my AFP was positive. I had at least two incidents of large amounts of gushing blood and then spotting. One in fact happened while I was at work ( Labor and Delivery)right in front of my OBGYN who just happened to be on the floor at the time. I have never gotten naked so fast in front of people I knew, funny now not so funny then. We still had a heartbeat so I was sent home on bedrest. Started serial HCG (pregnancy hormone) test and it came back that my HCG was 5x higher than normal this is actually one of the things tested on an AFP and the cause of me testing positive. Downs babies tend to have elevated HCG in Mom. As I previously stated my Jackie is a typical 6yo. As a side note I have to say in retrospect that year I was pregnant was one of the most fun and relaxing I couldn't work due to the pregnancy and I was off bedrest by the time summer came around my then 3yo son and I spent many a lazy day at the pool and beach with friends who wouldn't let me be on my feet chasing my son. Yes there was worry and some stress but denial can be a great coping mechanism as long as you listen to the restrictions your doctor places are your activities. Good luck and I'll be thinking of you. Pam

 

[KHolleger]

I had the test at age 39 in 1996. My doctor tried to convince me to abort my now 9 year old son! His 10 year old cousin almost met the same fate!

 

[Gadabout]

Expended AFP testing must be offered to all pregnant women 15-20 weeks gestation in California by law. To fail to offer it would be to violate the law. The ordering MD makes no money by ordering the test. The state of California assumes all lab costs and costs of followup. The choice of whether to have the test is up to the pregnant woman. The consent or decline form she signs is completely neutral. To say that testing is being "pushed" onto people in order to make more money is not based on fact.

The taxpayers of the state of California are paying those costs and of course the labs that perform them are making some kind of profit doing so. Someone is making money somewhere down the line on it.

 

[turkel]

Doctors convincing women to have abortions..... the state of Calif.paying and labs making money....what an evil world we live in
Get a grip doctors give you your options and sometimes an opinion if you ask. The state of California pays for the lab test and others after each child is born as a screening, they can then catch and treat some problems. I promise the medical profession is not out to get anyone. If you don't trust doctors and think you know best by all means have your babies at home without endangering the doctors and nurses who are actually there to make sure you have a happy heathly baby...there are those out there who refuse to listen to medical advice and then turn around and want to blame someone else for the outcome.
And thats my rant for the day

 

[Gadabout]

Doctors convincing women to have abortions..... the state of Calif.paying and labs making money....what an evil world we live in
Get a grip doctors give you your options and sometimes an opinion if you ask. The state of California pays for the lab test and others after each child is born as a screening, they can then catch and treat some problems. I promise the medical profession is not out to get anyone. If you don't trust doctors and think you know best by all means have your babies at home without endangering the doctors and nurses who are actually there to make sure you have a happy heathly baby...there are those out there who refuse to listen to medical advice and then turn around and want to blame someone else for the outcome.
And thats my rant for the day

I think you misunderstand. I am not against testing for conditions that can be cured through surgery or other means, I just see no point in testing (and rather inaccurate testing at that) for conditions that cannot be cured or fixed just so someone knows about them a few months in advance, that's all.

 

[turkel]

You have the right to refuse any and all treatment even if it means you are endangering your life or the life of your infant. The AFP is a first screening, no diagnosis is ever determined just from an AFP.I applaud those women who refuse the screening because the results will not affect their joy at bringing a child into this world. However I personally would want to know. I have seen too many women react with less than joy at delivery for reasons as small as the sex of a child let alone a physical or mental disability. I have seen the same women return months later happy. It is called coping. I would rather cope with my feelings and disappointment beforehand. Thats my personality,and I have that choice. Every women has a choice and that's a good thing Pam

 

[Ken Drake]

two cents -
My sister had this test come back high, had the amnio and everything was fine, yet her son has ocular albinism (pigment in retina isn't adequate) and has uncorrectably poor vision. He is otherwise 100% normal and wonderful kid.

Jill