Ultrasound w/poss. bad news (Trisomy)

[Banshee]

We were told at our 20 week level 2 US that our DD had some characteristics of T-18 she had several CPC's Choroid Plexus Cysts on her brain. These are just fluid area's that the brain hasn't filled in yet. We were giving the option of Amnio, which was not an option to me after they inform you of the risk of miscarriage! Even more so when they tell you about mothers that have lost healthy babies! So we basically had lots of Level 2 US till she arrived 7 week's early and was completely and perfectly normal! My Dr. also said that T-18 is something that normally affects first born son's. I will be praying for your sister and her little DD that she is given serenity and strength and guidance to help her make the right decisions for herself and her DD. It's not easy and I spent many a day on the verge of tears but somewhere inside of me I knew my little girl was fine.

 

[goofy!]

Yes, they can. However, with a girl they can also be signs of Turner's Syndrome, which is a much less serious thing. It is also possible for the nuchal thickness to be transient and not mean a darn thing. (I'm also going to agree that if this was a LII ultrasound, T18 doesn't seem likely, because if it was T18 the other markers should be very noticeable by 22 weeks.)



Honestly, it won't really tell you anything more than you know already. Those ultrasound markers are pretty straightforward for what they are, which is something that can give you probability, and only probability. The only way to know for sure if there is a trisomy or other chromosomal anomaly is a karyotype obtained via either a CVS test or an amnio. In your sister's case it is too late for a CVS, the only such test she can do is an amnio. It is also too late to legally terminate the pregnancy in any state other than Kansas. I would recommend that she consider getting the amnio and a fetal echocardiogram now so that she will know exactly what she is dealing with in terms of the care that her child may need at birth.

To me, the biggest issue is that she is 22 weeks along. That is way far along to just be hearing about this, and it limits her options considerably. The first thing she needs to do other than seeing a genetic counselor is to reconsider her choice of OB. Not only should she have had an ultrasound check for nuchal thickness weeks ago, but when the tech saw the nuchal thickness, a physician should have been brought in to the room immediately to direct the scan and look at it personally. As someone who has been through this twice, I would say that it sounds like the care she's getting is not all that it should be, and I would be insisting on seeing a maternal-fetal medicine specialist at this point.

Great post!

 

[CharityLynn]

Wow, thanks for all the information. I never knew about the QUAD test not being very accurate. I will suggest to her about an amnio which I honestly thought she'd end up having to get anyways.

As for the "not" telling her thing. I don't want to upset her anymore than she needs to be. Already learning about the possibility of Down's has her down and she knows what that is. She would be devasted to learn what T18 is and why out her through that if there is a good chance that her baby could be perfectly normal.

In my research though it looks like T18 is unlikely since they only found those 2 soft spots. Like someone else posted on here she should have other signs at this date if that were the case.

Thank you all for your kind words and for sharing your experiences with us. I will definately keep you all updated on this.

And again thanks,

Charitylynn

 

[NotUrsula]

Something you should know is that if it is too late to possibly terminate, some doctors won't mention or recommend an amnio, on the grounds that it won't matter if the trisomy is or is not present because you wouldn't terminate anyway.

I strongly disagree with that idea. Not all hospitals can properly handle the birth of a child with a trisomy, or even the birth of a child with a serious heart problem. If you know what you are dealing with you can be properly prepared and deliver in the right kind of hospital with the needed specialists standing by ready to do their thing.

In addition to that, at 22 weeks she still has 8 weeks to go, and now she will be worried the entire time. The full result of an amnio takes 7-10 days to come back, but with a FISH test added they can usually say yea or nay on a trisomy after only 3 days. If it is nothing she would be relieved, and if it is something then there would be no more suspense, and she could adjust her expectations for what birth will be like this time around.

Again, I wouldn't go charging into anything with this doctor in charge at this point; I'd ask for an expert second opinion right away.

 

[TrixieBel]

Yes, we have experience with Trisomy 21(Down Syndrome) - our lovely daughter Rachael is 14yrs old and has Down Syndrome.

She's downstairs right now watching Disney channel - probably either Zach & Cody or Hannah Montana - sounds like a typical 14yr old huh???? Earlier this evening she helped set the table and then took herself off to have a shower and wash her hair etc. She's looking forward to performing, with her dance group, at a community event on Saturday. Oh, and her MP3 player broke the other week (got stepped on in the tent when we went camping), but she's thrilled this evening because Dad has loaded her songs back onto another one (he's giving her his, the same as her one) and now she can listen to her music again. She's also looking forward to her whole school (she goes to a small Catholic school for kids with mild disabilities) camp next week for 3 days.

Down Syndrome, in general, isn't a terrible thing. Rachael was born with a small hole in her heart, but it healed itself within her first year - although we do know a few kids who had to have heart surgery. Rachael has had some ongoing issues with her hearing (she has a mild hearing loss, but not enough for hearing aides). She got her periods last year, and right from the first day she has dealt with it herself.

Having Rachael in our lives can be frustrating, but then so can our 16yr old daughter and our 12yr old son! But, having her in our lives has also led us to meet some wonderful people that we never would have met otherwise. If you want to see photos of Rachael you can visit my USA trip blog at www.xanga.com/tonjent

I can't give you any advice about Trisomy 18, I've not known anyone that has had a prenancy/baby with this involved...

With regards

 

[Minniemom97]

Rachael is a beautiful girl!

 

[sweetandsassyfl]

I honestly don't know anything about Trisomy 18 but I wanted to let you know that I hope everything turns out okay.
(hugs)

 

[Nikel]

With my dd, the level 2 u/s showed a couple of soft markers for Trisomy 18. After much thought and discussion we declined additional testing. She was born perfectly healthy.

 

[SandrainNC]

I don't know anything about Trisomy 18, but a good bit about Down syndrome! My son with DS is 6, almost 7). What the others have said about that test is so right. It was a triple screen when I was pregnant, but I am guessing now it checks for 4 things. We refused the test because it has so many errors and I knew I would not want an amnio. So we didn't know about my son's Down syndrome until right after he was born. A bit of a shocker, but he is one of the best things that has ever happened to me. Children with Down syndrome (and other disabilities for that matter) are so much more like other kids than different. It is not the end of the world. At first it feels like that. And that is perfectly normal! But I would not trade him for anything!

I agree with not telling her about the other if she doesn't know a lot about it so she doesn't worry even more than she is already. There is a bulletin board on www.nads.org (which somebody else already mentioned) where parents of children with Down syndrome post (in case she were to need it).

Sandra

 

[moet7]

We had a sister born with Trisomy 13, 25 years ago she only made it to 8 months old. SO this whole thing is really scary.

First off I know your pain and soooo sorry for you and your sister.

I think everyone has covered what your sister's next step should be and I think the number one thing is to get a new doctor ASAP.

The only thing I want to add is that your sister should have a karaotype done of herself. If your Mom gave birth to a baby with Trisomy 13, she could have a genetic condition called "balanced translocated chromosones"

Do you know if your Mom had any miscarraiges or if anyone else in the extended family had miscarriages? If you have BTC you can misscarry, have a child that is monosomy or trisomy.

If your sister is carrying a child with a chromone problem the only way to know for sure is with an aminio, but please remember, this is a routine test done alot now a days, but also one that can cause misscarriage.

From my understanding from what I have gone thru, most high risk doctors do not want to perform a amino after 18 weeks, but things could have changed since I had my last one.

I also don't understand WHY your sister never had the neck measurement done sooner. From what I rememeber if it's NOT done between 11 - 14 weeks??? then the test isn't reliable.

When your sister has her talk with the genetics doctor, she should make sure to mention your sister that was born with trisomy and she should ask to have her karaotype done.

After all of this is done and she fines out that she has BTC please PM me with any and all questions that her doctor doesn't have for her and I will do my best to answer them for her and point her in the direction of a fantastic support group for people with this.

Wishing you and your sister lots of

 

[Sleeping~Beauty]

I just went through the NP tests a few weeks ago. I did the one with the ultrasound and the two blood tests. We first had to talk to a genetic couselor, to understand what and why they give the tests now. As said in other posts, it is just an indicator of the probability of their being a possible problem.

Your results come back as statistics. The way the genetic counselor explains it, it can give you a better idea of whether you want to go for the amnnio because the NP is not invasive.


But they really emphasize that it is a probability predictor. It is not the be all, end all of your baby. Many false positives can happen, or results that make you worry, and then nothing is wrong. And sometimes that can happen in reverse.

 

[CharityLynn]

Again i thank you all for sharing your wisdom on this subject. My family looks at me like I'm crazy when I say the information I'm getting is coming from the Disboards. I mean what could people at Disney know about this lol If they only knew.

The disboards has become a very amazing thing in my life, not only for the excellant WDW travel advice but just the general knowledge everyone has here. There is probably nothing you can run into in life that some one on here hasn't dealt with in some way. It is truly amazing that we have this resource available to all of us.

The more research I do about Trisomy 18 the more I belive Emmalee does not have this disorder. Her feet and hands looked perfectly normal on the ultrasound (you should the ultrasound of her fett, the coolest thing I;'ve seen in a long time) her kidney's etc were all fine.

She did have an ultrasound earlier in her pregnancy and nothing was mentioned as to being "abnormal" So maybe this whole thing will turn out to be nothing. AT this point we are thinking the worse that could happen is Down Syndrome, which isn't all that bad, like many on here have shared.

She is coming here this weekend and scanning her Ultrasound pictures onto the computer to put them on myspace, maybe I'll ask her if I can share them with all of you. If so look for them once we get back from WDW! We leave tomorrow!

Thanks again,

Charity

 

[ChrisnSteph]

An amnio will be the only way to know for sure. I've had friends who had markers for Down Syndrome, and then in the end everything was fine.

As for T18, check out this website:

http://www.chromosome18.org/Registry/Default.aspx

I belonged to this organization years ago when dealing with my own sons chromosome 18 anomaly. They're a great resource and have done an impressive amount of genetic research on all syndromes of chromosome 18.

 

[karenTX]

I'll be keeping you all in my prayers! My bestfriend's last baby was born with T-18. It was truly heartbreaking. There were no signs or tests (amnio) done prior to the birth as it was a "normal" pregnancy. She only had some problems at the end of her 8th month but blamed it all on stress, she found out her rat of a husband had been cheating on her, but that's another story. I really hope all turns out well for you and your family!!!

 

["Got Disney"]

Not information if you google Trisomy 18 you will see site after site of memorials. Pictures and truly horrible heartbreaking stories. All of that I wish I had not seen. It only made me more and more upset. So keeping that away from her sister I don't see as wrong. It is trying to protect her feelings. Information not a bad thing and not trying to stop that. So while you are a nurse and know all about informed consent- do you realize that the INTERNET may not be the best place to get your medical information?

I agree as far as the internet goes. When I found out that my Dh had Hep C I started doing research online...OMG I had concluded that he was foing to die for sure no matter what. That the treatments were not that great and so on and so on.

Well after being soooo stressed over it I went with him to different dr.s and we bought books and so on and realized that as bad as it is he could very well out live the disease. I have been a nure for 28 years,,,,practiced for 22 and should have known beter.

I will never make that mistake again.

Also to add that I have Epilepcy and the meds I am on I was told could cause severe sever abnormalities and bad facial ones at that. That my children may never be able to work anywhere except McDonalds(no offence to those who work there) and in addition have cleft feet and hands. spinbifita, and so many other things. But on that note they told me that many children are born perfectly fine on my meds

Just to let you know that my boys were not just perfect they were tested to have extremly high IQ's....go figure ha. They get tested for free every 2 years till they are 18. They are in a study group due to the meds I am on.

Its hard not to panic and worry till you have the answers. At least if you know it is yes or no you can deal with it. It is hard to deal with somehing you know is not true or false yet.

As a L&D nurse I say she needs to just get the info from her Dr.s and not from the internet. You need to inform her that the net has many wrong answers and can be very scarry and may do more harm to her baby by getting all stressed out over it.

I know as a mom that went through the scare...it's easier said than done...mostly when it does not pertain to your child. I hope all turns out well....my blessings will be with her and your family.

 

[CharityLynn]

OK, good news. The baby is fine. All the stress was for nothing. My sister is so relieved, they did move up her due date though..now it is the day before my daughter's birthday lol.

Oh and she said I could post the ultrasound pictures too.

The first is Emmalee Voguing..see her fingers above her head and the other arm under her chin

And here is the coolest picture..her feet

 

["Got Disney"]

That is great news and thanks for the update the US pictures are great....thanks for that also. Heres to a healthy baby

 

[Barbossa]

Great news!!

 

[Luv'sTink]

Wonderful!!

 

[babytrees]

those are the sweetest US pictures I've ever seen!!!

Thanks for sharing and for the update!!