Pregnancy AFP screenings - trisomy 18 risk

[kami2199]

Thank you for all the quick responses. As far as terminating the pregnancy if it did turn out positive for Trisomy 18, I don't think I would. Abortion is something that I don't generally believe in and feel that what is meant to be is meant to be. With that being said, I do want to know ahead of time if for nothing else than to prepare myself, my DH and my child for the impending death of a sister/daughter. It would definately change a lot of things that I would do to prepare for the baby as well. I honestly don't mean for that to sound as selfish as it does.

I am not at risk due to my age. The doctor didn't give me much info only said that this ultrasound is sufficient. It appeared to be normal. He said he recommended the amnio and that the risks are greater for Trisomy than they are for complications due to the amnio. I was at a loss while at the appointment because of the three they test for this is the one I really didn't have much understanding/knowledge of. I had at least heard of the other two and had a good idea of what they are. Having someone tell you that you are at a risk for having a baby WILL die either before or shortly after birth after just seeing this baby on the screen moving her arms and legs around and even seeing her little face on the 3D was too much to comprehend. I have tons of questions now of course that I am gone. This is the first time I have seen this particular doctor as I typically see the midwife. I realize it's my decision, and I realize that nobody can or should tell me what to do. I guess I really just wanted to hear from other's how they would/did handle something similar and how it turned out. I know it doesn't mean mine will be the same but it's comforting nonetheless.

I initially told my DH that I don't want the amnio, then thought how hard the next months will be not knowing so started changing my mind. Everytime I go to buy something for this child I will wonder, will I get to use this? And having my 8 year old dd so excited about the birth only to lose her or have something wrong....

After getting home and reading about all the false positive screens and the fact that they can typically see markers on the ultrasound leads me back to not wanting it.

The nurse just called back after speaking with the other doctor - they are scheduling a level II? ultrasound with a specialist so I guess we will go from there. Thanks again for all the support and responses.

 

[mum4jenn]

If it were me I would have the amnio.

I was an older mom (36 when I had dd) and I had already had one miscarriage. I chose to have the amnio.

The doctors are VERY careful about where they stick the needle and do their very very best to not get near the baby. While the procedure is going on they are looking at a screen that gives great detail to the baby and they know exactly where it is at. In fact when the Dr was about to stick me with the needle he placed a finger on a nerve which kind of tickled and I twitched which caused him to immediately stop and he waited until he found the perfect place again.


I would rather know if at all possible ahead of time if there was going to be something wrong with my baby.Good luck with your decision and keep us informed. If you have any more questions about the procedure I will be happy to answer them.

 

[helenabear]

Good luck with the ultrasound. A friend of mine had one done after the test showed her for having an increased risk of Downs. After the ultrasound they were very sure that there was no risk for it and said the amnio wouldn't be needed. I hope you hear the same.

 

[HERSEY]

I had a positive AFP and did have an amnio. I don't think I would have had an abortion. That wasn't my reason for the Amnio. I wanted to have time to adjust and prepare. Everything did turn out fine by the way.

 

[jodifla]

If it were me I would have the amnio.

I was an older mom (36 when I had dd) and I had already had one miscarriage. I chose to have the amnio.

The doctors are VERY careful about where they stick the needle and do their very very best to not get near the baby. While the procedure is going on they are looking at a screen that gives great detail to the baby and they know exactly where it is at. In fact when the Dr was about to stick me with the needle he placed a finger on a nerve which kind of tickled and I twitched which caused him to immediately stop and he waited until he found the perfect place again.


I would rather know if at all possible ahead of time if there was going to be something wrong with my baby.Good luck with your decision and keep us informed. If you have any more questions about the procedure I will be happy to answer them.

Me too. I had an amnio, since I was 40 when I was pregnant. I felt knowledge is power, and it was such a relief when the test results came back...although it was hard to wait those 10 days!

I find it VERY hard to believe the 1 in 200 number for miscarriage with an amnio.....

 

[Luv'sTink]

I had a bad AFP it was high for Downs. I was sent for a level 2 which did reveal that the baby did have problems. The valves of his heart switched, he had clenched fist, his internal organs were in his umbilical cord.

Did I have the Amnio? Yes, I did and did it come back as Downs? No, it came back as full Trisomy 18. I did not miscarry because of the Amnio, even though the pregnancy prior to this one and two following I did miscarry naturally.

There is a great site for parents, grandparents, aunts, uncles anyone experiencing or that think they may be experiencing a T-18 diagnosis, it is www.Trisomy18support.org

It is hard to say what you will do when you don't know the real truth. Some people feel that if they stick there head in the sand it will all be fine and you know what most of the time it is, but there are those that it isn't OK. Trisomy babies can need surgery right away or oxygen, read the site it is so informative and support whether you choose to carry to term or choose to say an early goodbye, as they call it on the site.

PM me if you need any other information.

Do your research because only you and DH can make the decision you are faced with.

 

[CJBaby]

Just want to add a because I know how scary this is.

 

[CTPinkPrincess]

I had the AFP test come back with an increased risk for Downs when I was pregnant with DD (I was 33 at the time)...my OB/GYN referred me to a perinatologist who did a level II ultrasound (and we could have done the amnio if we chose based on the results of the ultrasound)...We decided against the amnio even though the doctor would only put my odds as the same as a 37 year old.

I know this is scary - good luck with your decision...

 

[monsterkitty]

I had a bad AFP it was high for Downs. I was sent for a level 2 which did reveal that the baby did have problems. The valves of his heart switched, he had clenched fist, his internal organs were in his umbilical cord.

Did I have the Amnio? Yes, I did and did it come back as Downs? No, it came back as full Trisomy 18. I did not miscarry because of the Amnio, even though the pregnancy prior to this one and two following I did miscarry naturally.

There is a great site for parents, grandparents, aunts, uncles anyone experiencing or that think they may be experiencing a T-18 diagnosis, it is www.Trisomy18support.org

It is hard to say what you will do when you don't know the real truth. Some people feel that if they stick there head in the sand it will all be fine and you know what most of the time it is, but there are those that it isn't OK. Trisomy babies can need surgery right away or oxygen, read the site it is so informative and support whether you choose to carry to term or choose to say an early goodbye, as they call it on the site.

PM me if you need any other information.

Do your research because only you and DH can make the decision you are faced with.

I had an AFP come back with Trisomy 18 as well. The ultrasound showed signs as well, the heart was outside the chest and the other organs were in the umbilical chord as well. We opted for the amnio, but I miscarried before the amnio. The pregnancy before this I miscarried right before the amnio because the baby had Turners Syndrome.

For me, knowing was very important so that I could prepare myself mentally and my family members. Another teacher had told the students I was pregnant both times (wanted to smack her) and it them became important for me to prepare my students as well.

My prayers are with you and your family in making this very difficult decision.

 

[LisaNJ25]

I had the same thing happen with #3. Had the amnio and everything turned out ok.

 

[DisneyAddict_M]

I HATE that screening and will definitely opt out of it should I ever have another child (it's optional). My dd tested as being at risk for spina bifida. Scared me to death. I had a Level II u/s that showed her normal. I could have had an amnio, but the doctor told me there was more of a chance of me miscarrying with the amnio than her actually having spina bifida. So I chose not to have the amnio. Even so, I was still scared during the rest of my pregnancy that maybe the Level II u/s wasn't all that accurate.

Congrats on your girl!!! and good luck!!!

 

[summerrluvv]

Congrats on your little princess

I opted not to have any of the screenings that were optional. I knew I wouldn't terminate the pregnancy and would have not wanted to spend my entire pregnancy worrying had something came up abnormal.

Good luck

 

[kami2199]

Thank you everyone for the responses and most importantly the suppoprt you have shown. We will find out in the morning when this ultrasound will be performed. We will go from there. I'll keep everyone updated...in the meantime, please feel free to share your thoughts and experiences.

 

[tinaluis]

I did elect to have an amnio because of the presence of a cyst on the baby's umbilical cord at 20 weeks and the fact that I'm 38. The procedure itself took about 10 minutes and was pretty painless. The results ruled out Trisomies 13, 18 and 21. I am 33 weeks now and the baby is fine.

Do you have any other soft markers for Trisomy 18? There is another scan they can do called a Nuchal Translucency Scan which is less invasive than an amnio. Has you doctor talked to you about this test?

 

[KirstenB]

I had an amnio with dd2. The doctor said his miscarriage rate due to amnio was 1 in 435. So obviously the rates can vary with each doctor. DD2 was born healthy. I was older with her. People keep talking about how they wouldn't abort. That's great. But it's not the only consideration. DH and I wouldn't have either, but information can prepare you for how to best take care of the baby you do have. Also, I had read of surgery in utero for spina bifida. Imagine being able to heal this before the baby was born. Anyway, best of luck in your pregnancy.

 

[dreamcometrue]

my friend just had a baby at 37. Her genetic testing came back as abnormal, so she had an amnio. Baby was fine. So those tests are not always acurate. Please keep us posted!

 

[kami2199]

I did elect to have an amnio because of the presence of a cyst on the baby's umbilical cord at 20 weeks and the fact that I'm 38. The procedure itself took about 10 minutes and was pretty painless. The results ruled out Trisomies 13, 18 and 21. I am 33 weeks now and the baby is fine.

Do you have any other soft markers for Trisomy 18? There is another scan they can do called a Nuchal Translucency Scan which is less invasive than an amnio. Has you doctor talked to you about this test?

No, I have not heard of that test. The doctor who saw me today just called (nice to know he cared enough to call and check on me this late). He asked what I had decided to do - I really think he is pushing for me to have the amnio and that alone worries me. I had a chance to ask a few questions - basically at my 11 week u/s they had said the baby measured about a week smaller than my dates should have put it at. He said that these measurements put her in the normal range for my original due date (the earlier one) and we discussed the level II that would be performed. He said his recommendation is to proceed with the amnio and the second doc would most likely agree even if they don't see any markers. He said the u/s today showed nothing abnormal though - and he said his tech is really good and thorough which is reassuring. I am going to call in the morning and tell them to set enough time aside to go ahead with the amnio at the level II ultrasound. I really need to know. I have decided that much. I know some of you feel that it might be the wrong thing to do given the chance of miscarriage but I truly think I will lose my sanity if I don't find out for sure.

So, tell me about this test you mention - is it basically the same as the level II?

 

[KirstenB]

From what I remember, the transnuchal honed in on the neck folds. I remember something about if they were prominent, it could signal a birth defect. I think it is most accurate before 12 weeks. Again, best wishes. I remember going through all this a couple of yrs ago when i was 39 and pregnant with dd2.

 

[ZPT1022]

Good luck OP. I had the AFP with my first and luckily everything showed up as normal. My second was twins which has an even higher number of false positives. In the end I skipped all optional testing with that pregnancy. My DS does have some issues (learning,speech,autistic spectrum) but nothing that would have ever shown up then. I guess I'm trying to say that you just never know how things will turn out. I hope in your case that things turn out for the best

 

[Green Tea]

I am going to call in the morning and tell them to set enough time aside to go ahead with the amnio at the level II ultrasound. I really need to know. I have decided that much. I know some of you feel that it might be the wrong thing to do given the chance of miscarriage but I truly think I will lose my sanity if I don't find out for sure.

Don't even give a moment's thought to what any of us think! This is your decision based on what is best for your family. We don't factor in except as a support group!

Hoping for the best. Most babies are born healthy. Just keep thinking that.