Pregnancy AFP screenings - trisomy 18 risk

[kami2199]

I had my second ultrasound today at 19 weeks and one day. Everything went great and we found out it is a girl! But, happiness soon turned to fear when I went in and the doctor told me the AFP results showed that I had an increased risk of Trisomy 18 - about one in eighty chance. He said that the ultrasound did not show anything abnormal but still wanted me to have an amnio to determine for sure. He told me of the risks involved with the amnio. To be honest, I have no idea what I should or want to do at this point. I feel like I want to know but also don't want a miscarriage risk from the amnio. Has anyone been through this or something similar?

 

[Snow_White]

When you have an amnio, there is a 1:200 chance of miscarrying. Is that worth it to you? For me it's not. I'm pregnant and I've declined all genetic testing and screening. Also, would you abort if it came back positive? If not then I don't see the point in the amnio.

Edited to add: Obviously this is a very, very personal decision. I would talk about it with your DH.

 

[mickeyboat]

I don't know what advice to give. I chose to decline the genetic screening and testing as well, because I did not want to be in your shoes, and knew that no matter what, I would not terminate my pregnancy.

I think there is some value in knowing in advance so you can be prepared.

My SIL's blood tests came back with some abnormalities, and she had an amnio, which relieved their fears about genetic issues, but she lost the baby at 24 weeks, and they elected not to do an autopsy. The doctor did not feel the loss was the result of the amnio.

Good luck with your decision. And CONGRATULATIONS on your baby girl!

 

[helenabear]

I admit I have also declined all genetic testing for this pregnancy. The risk of a miscarriage (I've had one already and don't want another) is not worth it to me. What would you do if you found out she would have Trisomy 18? I figured all the test for are things I would deal with at birth and wouldn't affect anything I do during pregnancy. Fortunately my doctor doesn't push for anything and agreed there was no reason to test. I know if she said all looked fine in the u/s I would definitely NOT do an amnio. It would feel like an unecessary risk IMO. But this is my point of view. I go in for my ultrasound at 19 weeks in just over a week.

 

[Pea-n-Me]

I agree with Snow White. I've had it happen too, only it was a twin pregnancy and I risked losing both babies with amnio. I would have kept the babies regardless, so I declined further testing. DS turned out fine, but it was a worry for the remainder of the pregnancy. Good luck.

 

[TinkerbellMama]

I had my second ultrasound today at 19 weeks and one day. Everything went great and we found out it is a girl! But, happiness soon turned to fear when I went in and the doctor told me the AFP results showed that I had an increased risk of Trisomy 18 - about one in eighty chance. He said that the ultrasound did not show anything abnormal but still wanted me to have an amnio to determine for sure. He told me of the risks involved with the amnio. To be honest, I have no idea what I should or want to do at this point. I feel like I want to know but also don't want a miscarriage risk from the amnio. Has anyone been through this or something similar?

This is what medical management of healthy pregnancy is all about! Obstetrics is not a field for optimists...they'd make no money that way. Personally, I'd look at it like this: is knowing worth potentially losing your baby? I don't mean that to be sensational, but you know that risk already. Your job is to figure out if "knowing" is worth that risk. I've heard the arguments about wanting to be prepared for any potential problems and you may agree with those, but on the other hand, better safe than sorry. 1 in 80 is remote. Not worth it to me, but you may feel differently. Heck, I didn't even want to know the gender of my baby, and had no trouble waiting 10 months (yes, more than 43 weeks!) to find out. Good luck with your decision!

 

[phillybeth]

I've never been through it but a family member has.

Trisomy 18 is (almost universally) fatal within a few days of birth, if not before. With that in mind, would amnio change your mind? What I mean is, would knowing the results change anything YOU would do about the pregnancy?

Would you terminate?
Would you carry to term?
IF you carried to term, would the results make any difference in your birth plan or how your doctors would treat you? (Induction, C-section, etc).

Amnios done by an experienced doctor are low risk- less that 1:1000 rather than the 1:200 that is commonly quoted. However, I'm going to give you the same advice I gave my cousin-

If you would terminate, have the amnio. You are pushing the limits of when it is safe to terminate, when you add in time for the testing and results you will be very close to 24 weeks.

If you would not terminate but you want to know if your child will die soon before or after birth, have the amnio later in your pregnancy- after 30 weeks would be best. That way if the amnio does cause premature labor, the baby has a greater chance of surviving. In addition, let me recommend you have a level 2-3 ultrasound done by a highly experienced MFM specialist. There are physical characteristics for Trisomy 18 that can show up on ultrasound. Then you will have more info to decide.

If you don't want to know either way, don't have the amnio.

Either way, more for you.

 

[Missy Mouse]

I had my second ultrasound today at 19 weeks and one day. Everything went great and we found out it is a girl! But, happiness soon turned to fear when I went in and the doctor told me the AFP results showed that I had an increased risk of Trisomy 18 - about one in eighty chance. He said that the ultrasound did not show anything abnormal but still wanted me to have an amnio to determine for sure. He told me of the risks involved with the amnio. To be honest, I have no idea what I should or want to do at this point. I feel like I want to know but also don't want a miscarriage risk from the amnio. Has anyone been through this or something similar?

Have you been referred to genetic counseling? Did they explain what Trisomy 18 is? The risk of miscarriage is 1/200 or 1/2 of one percent. The amnio is guided by ultrasound and while it's not completely safe (nothing in pregnancy is) it has come a long way. Only you can decide whether or not it's worth it for your family to know, even if other people tell you their experiences. As you know, the AFP also has a high false positive rate. Are you over 35? The fact that the ultrasound did not show anything like choroid plexus cysts or heart defects is a good sign, but only an amnio can rule out for sure. It really depends on your peace of mind. There are a lot of questions you need to answer for yourself first. Would you terminate the pregnancy? Could you handle delivering a stillborn baby? Will you blame yourself if you lose the baby after the amnio? These are very difficult questions but I have been where you are and they are things to think about. The unfortunate thing is you don't have a lot of time as the amnio would have to be done by 20 weeks. I think you should schedule an emergency appointment with a genetic counselor to discuss all of these things. Remember that only you can make this decision. Please be cautious in taking the advice of others - it is your baby and your life. Good luck and we'll be thinking of you.

 

[Barb D]

I had a positive AFP result and refused the amnio. I would not have had an abortion no matter what, and I didn't want the risk of miscarriage from the amnio.

I was able to get a higher-level ultrasound (2? 3? I forget), though, which showed that everything was normal.

 

[moppety]

for you during this hard time. These decisions are never easy.

I was going to say pretty much what phillybeth did.

 

[1rockinmamato2]

In addition, let me recommend you have a level 2-3 ultrasound done by a highly experienced MFM specialist. There are physical characteristics for Trisomy 18 that can show up on ultrasound. Then you will have more info to decide.

I agree, I would definitely seek an upper level ultrasound if I wanted the peace of mind.

Also, did your doctor discuss with you the high rate of false positives with the AFP and Triple Screen? If you're interested, Google the subject and I'm sure you'll find the statistics. There are many big scares for no reason.

I hate that today has been so rough on you but try not to let the uncertainty steal any of the joy of carrying the life growing inside of you.

 

[swilphil]

Is the AFP the blood test? After I declined an amnio, my doctor gave me a blood test. It may have been the AFP. The results came back abnormal, BUT the doctor said that was not unusual given my age (I was 39). My OB referred me to genetic counseling which consisted of a stage 2 or 3 sonogram where they could see much more detail and if there were any signs of Downs. I had two miscarriages and I wasn't willing to terminate the pregnancy if I had a Downs child (but that's a personal decision). After my genetic testing, they determined that I was at even less risk for having a child with Downs.

I am always surprised by the number of doctors who push for women to have amnios. It's your choice, not the doctor's.

 

[meandtheguys2]

I don't know your age, but I was 35 during my last pregnancy. My darling doc didn't even run the test, because she knew from our discussion that I wouldn't have chosen to abort, and because the false positives are so high it would only cause worry.

 

[MrsPete]

I had a similar experience with my first pregnancy, but my AFP test said that there was a chance my baby had Down's Syndrome. I was devestated, and I was amazed at just how many people told me they'd had a false-positive AFP test. I mean, 20 or 30 people just among my co-workers! Teachers I barely knew were coming to my classroom saying, "So and so told me that you got some bad news this morning. Don't be too upset -- listen to what happened to me . . . " False-positives are super common!

I did have the amnio test. After the suggestion that something could be wrong with my baby, I couldn't be comfortable for the rest of my pregnancy not knowing. The test was expensive and painful, and I had to wait weeks for the results. Still, I'm glad I had it done -- there's enough to worry about during pregnancy!

With my second child, I refused the AFP test. I didn't want to go through the stress of being told something could very well've been wrong. If the ultrasound or other standard tests'd suggested something, then I'd have considered it, but since everything appeared normal, I skipped it.

 

[dimimi]

Congrats on your baby girl! My sister has a child with Downs. She had no idea and no testing that indicated any risks. When she had her 3rd child she had an amnio...NOT...to terminate the pregnancy if the baby had downs, but to be emotionally prepared! The 3rd child did not have downs, and my sister could relax and enjoy her pregnancy. I also had an amnio with our 2nd child because I was over 35 and it was right after my sister's baby was born. I had a lot of friends who had babies late in life and many of us had amnios. When you go in for an amnio, they do not do the amnio if the child is in a difficult spot. Most people feel fine and go on with their day. This is a very personal question and I wish you luck, chances are that everything is fine. Congrats again!

 

[kerrynic78]

I had a 1 in 90 chance of my baby having Down's Syndrome. I was 27 and had the risk of a woman about 35.

I decided to have the amnio so I could be prepared for whatever the outcome was and it was definitely the best decision for my husband and I. My daughter was healthy but I personally needed to know and didn't want to find out at birth.

I had the amnio with a specialist fetal center and after hearing the statistics of that particular center and miscarriage after amnio, I felt completely comfortable in my decision.

Good luck and congrats on your baby girl!!!

 

[swilphil]

The stage 2 or 3 sonogram will pick up indicators of Downs as well. It's not 100 percent, but there are several things that they look for.

 

[luvindisneyworld]

Well I went through this to when I was pregnant.The reason they gave me was that if they do the amnio and it showed the Trisomy 18 I still would have time to have an abortion.But there was no way that I was going to do that and I would not have had an abortion no matter what it showed.

But I ended up losing Tiffnay anyway when I was right at 6 months.
But they wanted to do an autopsy and genetic testing after I lost her and in the end she did not have Trisomy 18.

 

[CEDmom]

I know a lot of people say they don't want testing because they wouldn't terminate no matter what. I'm sure for many that might be true but until you're actually facing that situation you don't really know what you'd do. I think you need to reach deep inside and figure out what you would do if the results are positive. Also, while positive results might not change your mind on continuing the pregnancy it will make you better able to handle your child's birth.

I wish you all the best.

 

[Green Tea]

Phillybeth wrote an excellent post. Someplace that does the higher resolution ultrasounds can probaly give you access to more genetic information that yur regular doctor as well. Combine the review of your results with a meeting with a genetic counselor and the higher level ultrasound, then make an informed decision.