Seeking Some Info in Case of Positive Afp Test and a Echogenic Foci in the Heart

The only way to determine for sure if your baby has downs at this point is to do an amnio. So the question is which is better for you. Some people would rather find out at the end of the pregnancy; others would worry the whole time and it would be better to know now. There seems to be a falaciy that if you get an amnio and the results are not "normal" then you terminate. This is not true. For many parents knowing now gives them time to become informed. I have seen other families who knew there was a possibility and chose not to have an amnio. When the chromosomes comes back confirming downs it's like a death. (Please understand I am talking about human reactions here, not what is right or wrong or what eveyone experiences) Whereas those who have the diagnosis prior to birth, have time to get information and emotionally accept the diagnosis prior to birth. So you need to decide which option makes the best sense for you and your family. One final thought, sometimes knowing what the problems are prior to birth may effect where you deliver and therefore your child gets the best care he/she needs right away and doesn't need to be transfered to another institution for care. Good luck! Hopefully all this worry is for nothing. Unfortunately worring as a parent never stops, what you worry about changes.

I am so sorry you are having to go through this stressful time. AFP test are notorious for having false positives. I have had many friends that have had them and I myself had one. This was after I had gone through genetic counseling and had 1st trimester blood test that said everything looked pretty good. It was very stressful when my dr. called me and told me about my AFP results. My first pregnancy ended at 22 weeks with major complications, so finding this out really stressed me out. I ended up getting an amnio and everything was fine. Yes, there are risks with any procedure you have done, but do take in mind that what is most important is to go to a dr. who had done many...there are specialist who only do amnios (that is who you want doing yours...someone who does them every day). Check out their stats. A good dr. will have very low miscarriage rates after an amnio. I would be careful with what you read on-line about amnios and if you are worried about having an amnio, talk with your dr. and with people that have been through it. I personally had a very good experience and many of my friends have as well. Remember, all you may read on-line is bad experiences as many people don't often take the time to write about good ones, but writing about bad is often theraputic for some.

Personally I would not do the AFP test again...for my 2nd pregnancy I didn't do it. It is my understanding that high level ultrasounds can tell a lot...that might be an option if you don't want to do the amnio.

Whatever you choose to do is very personal and will be the right choice for you. Hang in there and I wish you the best...I know it can be stressful.

My testing also showed a echogenic foci. I remember crying and being so worried. I did some research on the internet at that time and found out that EIF's are higher in the Asian population for some reason and suggest that it could be a normal variant in our population. Just something else to keep in mind?

I know that AFP tests are notoriously inaccurate. My own showed an increased risk for Neural tube defects... but a retake of the test a week later came back just fine. My son is fine.

As for the heart.. I believe that may be more "telling". My brother's wife had a high risk pregnancy (age) and they had some imaging done of the heart before birth which were fine. Once he was born and determined that he had Downs, the docs wanted to look at his heart as apparently it is not uncommon to have some issues there with Downs children. Turns out his heart was just fine (and he is the sweetest thing ever!).

There is a risk of losing the baby any time you do an amnio, regardless of the results of the testing accomplished. So, unless you are considering ending your pregnancy because of possible problems, then I don't know what the benefits of the amnio are. The down side is that you could lose a perfectly healthy baby. I have heard of things like in-utero surgeries that have been performed to correct some kinds of conditions, but Down's is not something that can be treated, so confirming if your baby has it doesn't then allow you to do any sort of treatment. It is all a matter of the number of chromosomes. Sometimes Down's children have physical issues that might be able to be treated.. but the Down's condition itself is not something that can be altered. When my nephew was born, there was nothing different about bringing him home from the hospital (except he was a couple of weeks early, lol) or caring for him than any of their previous 3 children. So if it turns out that your child does have Downs, you will have plenty of time to figure out "the ropes". You won't need to prepare by buying a special crib or something that you need to have in place in advance.
If you do some online research, I'm sure you will find there are many stories out there of families who lost a perfectly healthy child due to complications arising from the amnio itself. So again, unless ending your pregnancy is an option you are considering, then I'm not sure there are any benefits that might balance out or outweigh the risks.

So sorry you are faced with the uncertainty of how to proceed.

I hope this has helped. Blessings to your family!

Hi there, sorry your going through this, I understand. I feel obligated as a woman to share my story, not to scare you. To make a long story very short, I had a bad blood test, and then had an amnio and it put me into labor. I had to go on Terbutaline three different times and spent over 5 months in bed.My husband had to take care of our other kids and we almost lost everything. I wish I would have known then what I know now. We didn't have any family to help us and there wasn't alot of info out there then. My daughter was born fine, she made it to full term but it was very difficult. I don't trust the test completely and you have to ask yourself what you would do if the results were not good. Also, you could loose a completely normal baby like the other person said. I am telling you this so you can here the side that no one talks about and so you think it through very carefully. Try to relax also, the stress probably isn't good for you or the baby. Good Luck and let us know how things turn out. :)

What do do depends on what you would do if the baby did have downs syndrome. If you would terminate the pregnancy due to downs.. then you should absolutely have th amnio.. the amnio is THE only absolute test for downs. the ultrasounds and blood work are for markers only- they do not tell you for sure what the baby's genetic makeup is. I would never terminate a pregnancy based on these "soft" markers.. they are not absolute.. they are just "hints" that something MIGHT be wrong.

If you would continue the pregnancy no matter what condition the baby had.. then stop the roller coaster ride of prenatal testing. Each test is scary.. and then you have to wait for results which is absolutely horrible.

I had issues with my 1st pregnancy and we did have an amnio. the amnio was normal. the baby had all the right chromosomes...

I was going to just have 1st trimester screening (ultrasound and blood work at 11 wees- to look for the width of the babys neck (marker for downs) the ultrasound was normal.. the blood work wasnot.. so again we had an amnio.. which was normal.

I hate prenatal testing. It is so scaryto be pregnant and waitng for the test results to come back.

How old are you? If you are of advanced maternal age, and you will worry the rest of your pregnancy, then an amnio might be worth it...even if you don't plan to terminate if there's a problem. I had an amnio with my second child and it was a breeze. But it's important you go to a doc who has done a ton of amnios and is experienced. Echogenic foci are pretty common. My kids also had some of those 'soft markers' (they had pyelectasis and choroid plexus cysts). Did you have the nuchal scan done at 12/13 weeks? That is a lot more predictive of a problem than just afp. I'm sure the baby is fine. Do what makes you feel comfortable and gives you peace of mind. Ultimately, none of us knows what issues our baby has/will have. Even people with great test results sometimes have babies with down syndrome. Good luck.