Question about possible Down's risk - pls help

[iwillsurvive]

I am not sure whether this is an appropriate place to post this question, but I am desperately looking for any help, so I hope you will excuse me.
To give a little background about myself - I am 35 and currently 13wks4d pg with a singleton after my 3rd IVF and this is my first pregnancy. I had a Nuchal Transluceny test done at 12wks2d which showed normal result. The baby's nuchal thickness was 1.7mm and the nasal bone could be detected immediately. My doc also does a b/w for PAPP-A and Free Beta HCG at 13wks which is similar to a Triple Marker test and assesses the risk of Trisomy 18 and 21. I got the b/w result today and it says that the chance of Trisomy 21(Down's Syndrome) is 1:50 which is considered high risk. According to my doc, I should not worry too much about this now 'coz sometimes this test gives a false positive for IVF mommies. However, he wants to get the Triple Marker test done at 16 weeks and if that too shows abnormal result, then we can opt for getting amniocentesis done. Has anybody had any experience with this kind of testing along with the Triple Marker test? If so, what was the result? Any advice/opinion will be appreciated. I am so scared, please help!

[Sarah66]

First, congratulations on your pregnancy!! You are on your way to holding your sweet baby. I am no expert on any of this, but from what I hear this bloodwork is terribly inexact. After IVF it is very hard to relax in a pg, and not worry the time away, but I really encourage you to actively pursue de-stressing activity, whatever works for you. I hope someone here can give information to you on this, but I also suggest you post your question on the General Parenting bb, it is much more active and there are lots of IVF mommies over there who can give their experiences. Big hugs.

[Fireflyx3]

I'm extremely glad you came her to ask, your the first in a long time that thought to come to the source, lol! I have a 7yo son with down syndrome.

First of all, your dr is very much correct. In our case, the testing came back as no risk at all. Well, my no risk baby is at school right now, lol! These tests are not reliable and aren't diagnostic tests, they are simply tests to asess the risk and help determine whether or not further diagnostic testing is needed. With my 2nd son and now this pregnancy, we opted not to do any assesment testing, we just do the level II and we are at an increased risk.

Here's how I feel. What would you do with the information? Would you terminate or continue the pregnancy? This is the most important question. You need to know how you feel about the possiblity of raising a child with down syndrome. I understand that you are scared, but you need to know why you are scared. What exactly frightens you? I'm not trying to belittle your feelings and I'm sorry if it comes off that way, these are the questions I had to honestly ask myself.

I will be upfront here and tell you that my son is extremely healthy and is about as normal a 7yo as they come. He has no heart issues, no major medical issues at all. In fact, most people don't realize that only 30% of babies with down syndrome are born with any type of heart defect requiring medical intervention. You'd be suprised just how healthy, happy and amazing these kids are.

Bottom line, you need to decide what you will do with the information. You need to be honest with yourself about your feelings. I wish I could give you more info re: the tests, but I don't have a huge amount of info besides my personal experience and even then everyone is different and every pregnancy is different. The best I can do is to give you encouragment and hope, trust your doctor to know what's best, go with your heart and make sure that whatever decision you make is one you know you can live with. We're all here for support and encouragment and we would all love to help you out with any and all information that we can give you. Take care, enjoy your pregnancy and know that your baby is just fine!!

[burra]

I can't say it better than Diana.....ITA with everything she said

I have a little girl with Ds who is now 4 and fully included in regular kindergarten where everybody loves her and she loves everybody....well except for a couple of boys who annoy her She's basically a typical little 4 year old girl who has some developmental delays that are not holding her back with her happy and healthy life.

Other than that I think Diana has covered everything I would have said, but she says it better

Congratulations on your pregnancy and hope you have a healthy beautiful baby in your arms soon.

[kimmie]

I couldn't say it any better than Diana and Karen have, so I won't even try. I know many, many children with Ds (and even more with other syndromes) IRL, and the vast majority are healthy, happy kids with great lives, full of things and people that they love.

Just so you know, too ~ Ds is not the only possible explanation for test results that are "off" ~ many (most?) tests provide high numbers of both false positives and false negatives, and the vast majority of birth defects are not even *tested for* in utero. I'm not trying to scare you ~ I just want you to be aware that even if you have "perfect" results during prenatal testing, you can still have a child with differences that are noticeable at birth or later. My Maddy is 11 years old, and with the u/s technology that was available at the time, and no history of birth defects in our family, plus a low-risk singleton pg, her prenatal diagnosis was completely and utterly missed by my OB-Gyn. He was surprised by her upper limb anomolies, as well as her heart defects, in the OR during my C-section. She was diagnosed with Cornelia deLange Syndrome a few days later in the NICU. While I won't classify her as healthy (she is "medically fragile") I will call her the best, most wonderful person to ever come into my life.

I'm actually glad that I wasn't aware of what was in store for my family ahead of time. I was able to enjoy my pregnancy until nearly the end, and when we finally came home from the hospital with my much-wanted and much-loved baby girl, we were all thrilled to the core. Had we known ahead of time, I would have had anguish over her health, worry about what was to come, etc. Sometimes, ignorance is bliss...at least in my case at that time. Even if I had known, I would have carried her for as long as possible (she was early ~ 34 weeks) and loved her ~ but I think that it would have been harder on me, personally, to know about the trials we had coming. Before her birth (and the sea change in my personality that occurred in the year or so afterward) I would have literally worried myself sick over the "what-ifs".

Now, I am a big believer in making the absolute most of every moment of every day ~ including really crummy days that are sometimes overfull of anxiety and fear. I can center myself no matter where I am by reminding myself of the absolute gift that is one more moment to hold and love my child on this earth. So many don't get that ~ or only get in for a few months in the womb, or a few moments after birth. We've had 11+ wonderful years, so far, and while I don't look too far ahead, I know that loving Maddy has strengthened me in ways that a typically developing child would never have done. Her life is anything but wasted ~ she attends school, has friends, has a loving family, and laughs every day. She is funny, loves a good joke, and has the best smile you've ever seen...it lights up her whole face. Yes, she is severely handicapped. No, it doesn't make much difference to her. As far as she's concerned, we're the weird ones, what with all those fingers, and why on earth should she walk when someone can carry her? She uses adaptive signs to communicate with us, and when we're a little slow getting her message, she gives a thoroughly exasperated look and sighs at us. Yes, she is a pre-teen.

Anyway, enough about my girl. I hope your pregnancy is completely textbook in every way, and that your little one is healthy and whole and has all fingers and toes. If not, and the "worst" happens ~ trust me, it isn't the worst, as long as your baby is born alive and comes home with you. There is life after diagnosis (of whatever kind), and while it may be a different life than the one you are imagining now, it's no less wonderful, I promise.

Gentle hugs ~ do let us know how you do! I, for one, will be waiting anxiously ~

[momto3angels]

From my experience, the NT scan is MUCH more accurate than the b/w for T-18 and/or T-21. In my pg with my son, my NT scan was 1.5 but my b/w came back showing a pretty significant risk for T21. I think it was either 1:100 or 1:50, but I can't remember for sure. My peri told me that the b/w is really unreliable and that the NT scan is more reliable.

I opted not to do an amnio, but at my level II u/s, my doctor took a lot of time checking out the different "markers" for DS and other chromosomal abnormalities. Had there been any markers at the Level II, I may have considered an amnio, but I don't know that for sure, because there weren't any.

My son is a perfectly healthy almost 3 year old, without any chromosomal problems.

Congrats on your pg and good luck!

[burra]

Just wanted to add that with my youngest son I had a nuchual fold and blood work. The measurement was 2.0 and with the blood-work the risk factor came back at 1 in 18!

He does not have Down Syndrome...although he has a fat neck

My DD with Ds had a risk factor of 1 in 1000.

I have no faith in the NT and bloodwork, in my case they were both way off.

[zacharysmom]

Hello to everyone first. I kinda am in the same situation as iwillsurvive, but mine comes with both advise and questions. I also have a 4 year old son who has down syndrome. When i had the testing with him all was normal and only the level II u/s showed nuchal thickness, and a few other alarming markers with chromosomal problems. I had the amnio and we found out he would be born with down syndrome and also was diagnosed with an AV canal heart defect. Today he is my little miracle and the love of my life. Having him has been such a joy to me and everyone around us. Since giving birth to him i gave birth to my 2nd son in 2005 who was chromosomally perfect. I am now pregnant with #3 i just had my 12 week Nuchal scan a week or so ago and my measurments was 2.1 and they got a clear shot of the nasal bone and all looked well. We were told with the results of the T scan in decreased our chances by 80% of down syndrome and other chromosomal defects. Well we had the 1st trimester screening at that time as well. I got the results for it back yesterday to find that my babies risk for DS is 1 in 105, and 1 in 10,000 for tri 18 and 13. I was really upset about the results. Having a child with down syndrome whom i love more than life i know that either way i will keep this baby as well, but i also fear the heart defects although i know they arent always present and i also fear caring for two children with a disability. Right now my 4 yr old with DS and my almost 3 year old are at the same level of development although my 1st son with ds dont really talk yet and is delayed in many things that his younger brother isnt. Its basically like have 2 two year old right now. I just dont know how i could devide my time with another child with ds. I know i will find a way , but it was easy to devote all my time and efforts to my 1st child since he was my only child. I just pray this new baby is healthy i know those test are so off. I am scheduled my amnio June 9th so i will know the outcome then. I just remember that a child with ds is a true blessing and God wont put more on you than you can handel.

thanks everyone

[Fireflyx3]

Hi there zacharysmom! Welcome, it's great to have you on board!

First of all, congratulations, I'm also expecting our 3rd child. We just went through 2 very extensive anatomay scans (aka Level II u/s) and so far everything looks fine and our risk of having another child with ds is looking very low, although we'll only know for sure when she gets here.

I can understand your fears of having another child with a disability. I actually have 2 myself, Joey has down syndrome and Jaysen has high-functioning autism (and as much as I love both my boys, if I had a choice between ds and autism for this baby I'd choose ds any day). And yes, I do worry about what if our new baby has a disability as well how would we cope? Heck, sometimes I wonder what's next, lol! But, I know we'll find a way. I guess my inspiration comes from a family that lives close by that has adopted 6 kids with ds over the years and I say to myself if they can do it there's no reason we can't do it. How do I handle it? A lot of it is just accepting it, that this is my life and embracing it. There are many days when I have to just take a deep breath and sorta walk away from the situation for a moment (usually involves putting a movie in for the boys and me laying down for a while). It's not easy, but it's doable and honestly I wouldn't trade it for anything else. I believe 100% that my faith is what has gotten me through it all, I've learned to rely on God for strength and endurance and He hasn't failed me yet. I've actually changed my view on the idea that God doesn't give us more than we can handle. I believe that God does give us more than we can handle sometimes, those are the times when we start to depend on him for what we really need and stop trying to deal on our own. Those are the times when the boys are having a really rough day and I just have to throw my hands in the air and say "Ok God, I can't handle it right now. Time for you to take over." And you know what? He's come through for me everytime, just at that moment everything falls into place and I can breath again and go on.

Ok, enough preaching, lol! I'll be praying for you that everything turns out fine and that you can relax and just enjoy your pregnancy. Take care!

[zacharysmom]

Diana30,

Thanks so much for you reply. I know that whatever the outcome I will do my best. Iam actually trying to calm down and try not worry. I just want what best for my kids and family and I want to be able to give as much special attention to each one as they grow and need it. I am also trying to look at the whole picture and although it is possible its rare for a women who is 30 with no genetic predisposing to have two children with down syndrome not to say that it can't or wont' happen. But my odds without any testing were 1 in 100 for ds just because i have a child with down syndrom. I sorta wish i wouldnt have had the test in the 1st place. I really would love to enjoy just one pregnancy and at least considering this is prob my last ;-) I am going through with the amnio just for my piece of mind and so we can prepare and keep a watchful eye out for any heart defects that may follow. I have asked for the FISH test so that i can get some piece of mind in just a few days. Thanks for everything Ill let you know how everything turns out and good luck with your new pregnancy. God Bless

Cindy