need insight - 1 in 9 chance baby has downs *UPDATE POST #35

[olien]

I am 17 wks preg.
Sequential screening test gives us a 1 in 9 chance of baby having DS. I know these tests are not always accurate.

We really would prefer not to do an amnio bec of the risk to the baby. We would not terminate the preg if it is a definite DS baby anyway.

I can do an amnio now ...or...

We are having a genetic US at 20weeks where they will look closely for any DS markers and then decide if amnio is the way to go. Also if we dont do the amnio they will send us for a fetal echo cardiogram to check the heart.

Would there be any benefit that we are unaware of with knowing the baby definitely has DS? The Drs tell us the delivery is not affected by DS.

I am almost 40 and dont know if I will be able to have another baby, so the thought of loosing this baby bec of an amnio just for peace of mind to me isnt worth it. That said I may be overlooking some important facts I am unaware of.
Any thoughts or info appreciated.

x-posted in special needs parenting

[JorgieGirl]

I don't have any experience or expertise on the subject, but I wanted to mention I have two very good friends who determined DS after their babies were born. Both babies were and are just fine and not finding out during pregnancy didn't harm either babies.

Best wishes to you mama.

[Peace+Hope]

i wanted to say i read your post and

from reading what you say, you don't like the idea of an amnio, and i'd say you should go with your intuition on this.

if there was some treatment that could be done in-utero for downs, maybe it would make an impact on your decision, right?

i really hope you are able to see more signs at your 20-week appt. one way or the other, and i'm so sorry you're having to go through this. there's no way to take that ratio back out of your consciousness now that it's in there, i imagine

do you feel that waiting and not knowing would be a major source of stress for the rest of your pregnancy?? that would be very difficult for me, but i worry and i haven't had any screening at all (i'm 36).

[Doberbrat]

wanted to offer a

the advantage of the amnio is knowing if there's something else other than ds going on and potentially make choices sooner rather than later.

otoh, if you KNOW you wouldnt terminate a pg no matter what, I wouldnt do an amnio.

I'm sorry you're in this spot

[Lilcrunchie]

I am not sure if I'd do the amnio and I"m sorry that you are having to decide on something like that, mama.

I worked in early intervention before having my kids, and one thing I'd possibly consider is giving birth at a hospital w/ a higher level NICU in case there is a cardiac issue at birth that is concerning at birth. But you could talk to your docs more about how necessary they feel that is, and how likely it is that the fetal echo would pick up any cardiac abnormalities. But it is something you could consider even if you don't go with the amnio.

Hugs and strength to you mama.

[beckyand3littlemonsters]

[Vespertina]

Originally Posted by olien

I am 17 wks preg.
Sequential screening test gives us a 1 in 9 chance of baby having DS. I know these tests are not always accurate.

We really would prefer not to do an amnio bec of the risk to the baby. We would not terminate the preg if it is a definite DS baby anyway.

Many good thoughts for you and your baby.

I can do an amnio now ...or...

We are having a genetic US at 20weeks where they will look closely for any DS markers and then decide if amnio is the way to go. Also if we dont do the amnio they will send us for a fetal echo cardiogram to check the heart.

DS1 had Ds. It was his combination of heart/pulmonary defects that were fatal. Since I didn't have the first trimester screening with him or the AFP we were not aware of our odds and the diagnostic u/s I had showed nothing wrong (but I'm strongly convinced it wasn't thoroughly done and was rushed). I did begin to show symptoms of a problem (excess amnio fluid) that I knew was associated with Ds and Edward's syndrome. I had a gut feeling something wasn't right, but I wanted to believe all was okay despite my instincts telling me otherwise.

Our plan of action with this pregnancy was to have the first trimester screening and following the results of the risk assessment decide how to proceed with more detailed ultrasounds. The amnio was out of the question. Just not something I'm comfortable with and a positive dx wasn't our primary concern. I knew this time I wanted to have very thorough ultrasounds done to check baby's heart and everything else. And if a problem with the heart was found I would have requested the fetal echocardiogram.

The risk for Ds to occur again goes up 1 percent, so not really significant. My risk assessment this time was 1/480 (my hCG was elevated) after the blood work came back. Risk assessment for someone in my age group is 1/780. Even with those odds I was still insistent on being seen by a MFM specialist for the ultrasounds. I had three. The first was the longest and most detailed, about an hour and the second was about 45 minutes. This last one I had just over a week ago was about 30 minutes. The peri was very pleased with everything. His heart looks great and everything looks wonderful with him. I don't have that uneasy feeling like I did before and the reassurance the ultrasounds provided has helped tremendously, but I still have days where I worry that something unrelated to Ds will happen.

Would there be any benefit that we are unaware of with knowing the baby definitely has DS? The Drs tell us the delivery is not affected by DS.

There is no way to completely diagnose prenatally what, if any, medical conditions would or might accompany a baby with Ds. A positive dx only confirms or rules it out. It says nothing about the baby's condition.

Ultrasound that is thoroughly done by a specialist can diagnose some problems (like heart or gastrointestinal). Roughly 40-50% of babies with Ds are born with a CHD. There's no way to diagnose prenatally what, if any, mental disabilities a Ds baby will have. There's no way to know whether the baby will be "high functioning" or "low functioning."

Termination was never an option for us. I did want to know as much as possible about babe's condition if Ds was the case, which is why I only wanted to be seen by a peri for ultrasounds and monitoring.

I am almost 40 and dont know if I will be able to have another baby, so the thought of loosing this baby bec of an amnio just for peace of mind to me isnt worth it. That said I may be overlooking some important facts I am unaware of.
Any thoughts or info appreciated.

x-posted in special needs parenting

Sending you lots of positive vibes.

[staceychev]

Wow, I'm not sure what to add after Britt's incredibly thorough and sensitive post... but I just wanted to add my hugs to the mix. I tested 1 in 39 during my first pregnancy and my OB tried to strong-arm me into an amnio. We switched to a midwife, did genetic counseling and had an MFM specialist do our level 2 anatomy scan. Because I knew we wouldn't terminate if it was Down's, I just wasn't comfortable with the amnio. But DH and I were really open with our family that it was a possibility, and we knew we had their support.

This time, I've declined the NS/AFP screening, and so my new midwife (different city than last pg) sent me to an MFM for my anatomy screen. That, coupled with our genetic counseling from last time, is giving us enough peace of mind to hold out until delivery.

Good luck with whatever you choose. s

[Kidzaplenty]

The way I see it, you have an 8 in 9 chance of having a perfectly normal baby.

I would trust your instinct and do what you feel you should.

[Astraia]

I have 1 in 4 odds of passing on muscular dystrophy. (50% chance of a girl carrying it, 50% of a boy having it) We did the amnio with DD and when we found out she was a girl it was total relief.

When we found out this baby was a boy and then had to wait another 3 weeks for results for the MD it was the most excruciating wait imaginable. I went through a long phase of beating myself up for it and worrying. He's healthy, but DH and I both came to the conclusion that if we have other children the "normal" way (not planning to) we won't do the amnio.

We wouldn't abort, there's no medical reason to know in advance (can't do anything during pregnancy or early days to fix it or lessen it's impact) so it was just "to know."

If he had had MD, I would have spent the rest of the pregnancy freaking out and crying and not getting attached to him because I would have been so upset by the results... but I know once he was born, I would have loved him regardless of his physical limitations, so why was I putting myself through all of this?

That said- an amnio isn't that bad. I didn't find it all that painful, the risk of the nicking the baby is ridiculously slim (the needle goes in just far enough to get through the amniotic sac, then a catheter is inserted to withdraw the fluid) and new research coming out is showing the risk of miscarriage caused by the amnio to be as low as 1 in 1600. That's what I was quoted most recently by my genetics counselor. For my daughter, in June 2008, I was quoted a risk of 1 in 250 (and I THINK this number was based off research done in the 1970's? I might be wrong on that) This is obviously a HUGE difference in risk.

This is an impossibly hard situation to find yourself in. My worry was similar to yours- in your case age making it hard to conceive again, mine was losing a healthy baby and not having enough nerve to try again (I can only get "lucky" so many times, right?)

Definitely have my sympathies and understanding, I hope you can reach a decision you're comfortable with.

[JL83]

My question is whether or not knowing about DS would influence your birthing choices.

I would NOT have a baby with Downs at home because of the potential for birth defects and needing medical attention. So, in our case, I would want to know for sure (because I am planning a home birth).

But, if I was planning a hospital birth, I wouldn't have the same need to know.

[berrymama]

Hugs to you. We went through a stressful couple of weeks after our 20 week ultrasound when a couple soft markers for down's were seen. We had not had the quad screen. We decided to do the fetal echo at 24 weeks and because everything looked great we are continuing with our plans for homebirth. The other option is to have an amnio at 37 weeks so that if it causes labor you are term. If it doesn't cause labor, you will likely have the final karotype prior to delivery (it takes about a week for results) so you could either be prepared for a baby with DS or go into labor with nothing at all to worry about.

[sunflower.mama]

Sorry that you are dealing with this. We had a similar scare with my son years ago. The only thing I can add for you is that the % risks of miscarriage due to amnio don't reflect the skill and experience of the practitioner. So if your chance of a miss is 1/400, that risk would go way down with an experienced MFM doc as opposed to a recent grad. Just something else to weigh.

[Pinoikoi]

I don't have a baby with downs, but my adopted son has had quite a few health problems. I wouldn't do any further testing. It can be done after birth. I would like to know what tests indicated the 1 in 9 chance for you though. I have heard the blood test is pretty well known for giving false info.

[jeliphish]

Do you have access to your lab work? Do you know your hcg levels along with your papp-a levels? Can you share... I researched my test outcomes to death when I came up high risk. I may be able to share more detailed info if I can get all of your blood level readings - including all "MoM" readings. If you get the readings you will see "MoM" and know what I'm talking about. Its" multiples of the medium."

[JaymeH]

I read your post, so I had to at least offer a hug. And for what it's worth, no matter what your decision, you may decide to look into some different local organizations that support families with downs kiddos. I have an acquaintance who mentors families that find out they have a downs kiddo (whether before or after birth, depends on when the families are receiving the news). It might be helpful to talk to a mentor family.

[beep]

Congratulations on your baby--I'm sure you will love and enjoy your little one whether or not he/she has any disability.

If I were in your shoes, I would skip the amnio, have the detailed 20-week scan, and choose to deliver in a hospital with a NICU and good pediatric cardiology--just in case the baby needed extra medical support. Beyond that, I think I would seek out some Down syndrome resources just in case, but mostly just enjoy my pregnancy.

Good luck and best wishes--this uncertainty must be hard to live with!

[Peace+Hope]

olien, do you have an update?

[mumkimum]

OP - from someone else who was told they have a 1:10 chance of Downs this pregnancy too.

We felt very much the same about it as you - we wouldn't terminate the pregnancy b/c of DS, didn't feel like an amnio was worth the risk to the baby, and personally I know it would be harder on me being pregnant knowing and I would deal easier with finding out about DS after birth.

We've gone with the additional ultrasounds, and have been happy with that. It isn't more invasive, we've had great explanations of what they're looking for and what's going on (no other markers have been noticed, and baby looks great and healthy) and my personal feeling is that IF something is noticed in the screening there with the heart, that could be what may cause a problem in or after delivery, or would need to be noticed quickly in case it needed any treatment. I haven't come across anything myself that you might need to be more vigilant about (other than the possibility of more difficulty breastfeeding).

[JenBuckyfan]

I'd say if you are going to have the baby regardless of the diagnosis, I would not have the amnio. Wait and see what happens at the later ultrasound and go from there. You can then prepare a bit more if need be. Go with your heart and intuition, it sounds like you already know what you want to do.