Ultrasound w/poss. bad news (Trisomy)

[CharityLynn]

Ok, I went to an ultrasound today with my sister, she is 22 weeks along in her second pregnancy. Her first child, my neice is a perfectly normal 3 year old. We went today excited about finding out the gender of this baby, its a Girl! Which is pretty cool for me since my SIL is having a boy in Nov, so now I have one of each to buy for.

Anyways, after the ultrasound she had an appointment with her OB to discuss the Ultrasound results. We were excited while waiting talking baby names etc. (Emmalee Kay, wil be her name)

So when the doctor dropped a bombshell we were shocked to say the least. He siad there was some calcification in the heart and the skin on the back of the neck is thicker than it should be. He mentioned that these can be signs of Down Syndrome (Trisomy 21) or even Trisomy 18.

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. My sister had her quad test last week and we are waiting on those results which I assume will tell us weather or not baby Emma has Down's, but would it tell if she had Trisomy 18? I have no clue. She is making an appoitment with genetics counselor and hopefully we'll learn more.

After researching Trisomy 18 I must say I'm scared. I haven't told my sister what this is since from what I read doesn't tend to end with a live child.

Does anyone here have any expereice with either of these disorders or chromosome disorders in general?

TIA,

CharityLynn

 

[java]

Oh I am crying reading this. I had a Trisomy 18 scare from a blood test. I came back 1:64 which is considered very high. I went to geneticists. I had to wait and wait and wait for a level 2 ultrasound. First time I went it was inconclussive- which freaked me out. Inconclussive because the baby was in a position that wouldn't allow them to get the photos they needed. I waited some more. And then I got the all clear Ultrasound(after 2 month of freaking out and reading everything on the internet about it.)

What I can say is that the level 2 ultrasound is the way to go before she makes any decisions. Trisomy 18 is a heartbreaking genetic disorder. Don't let her google the sites- you will see memorials that will break your heart. I still talk to one mom. Generally Trisomy 18 babies don't make it past the first year(with most not making it to term) I am so sorry. I will really hope that is not the case for your sister.

She needs to KNOW before she needs to worry. Hugs to you all and I hope you get better news soon. Again I am sorry.

 

[Lisa_M]

As far as I know the Quad test is a screener to determine the likelihood of chromosomal abnormalities. From what I gathered about it, it has a high rate of false positive. I think the only concrete way to know for sure would be an amniocentesis or a chorionic villi sampling(CVS) test. I think the CVS is only done until the 15th week or so, so an amniocentesis would be the only way to know for certain.

I'm hope things work out for your sister and your family. I'm sure the genetic counselor will be able to tell you more.

 

[CharityLynn]

Luckily she doesn't have a computer, I did tell our mom what I found about Trisomy 18 and she agreed with me not to tell my sister. Everything I read, is like you said Heart breaking.

My one worry is since we are leaving Friday for Disney World and she will be staying here for at least 1 night while we are gone is that she'll hop on the computer and check it out herself.

Thanks for you well wishes too

 

[java]

Luckily she doesn't have a computer, I did tell our mom what I found about Trisomy 18 and she agreed with me not to tell my sister. Everything I read, is like you said Heart breaking.

My one worry is since we are leaving Friday for Disney World and she will be staying here for at least 1 night while we are gone is that she'll hop on the computer and check it out herself.

Thanks for you well wishes too

Create a password so she can't!
And have a nice trip. How far along is she? I was too scared to go amnio (this was my 4th child) so I was happy with a level 2 Ultrasound. I will tell you that my doctor told me he had never seen anyone get a clear level 2 and end up with a Trisomy 18 baby. And he said he had seen people get false positives in regular ultrasounds for various reasons- even tech error- or dates being wrong. Try to stay postitive and have a great trip.

 

[mickeyboat]

Hoping for the best for your sister and little Emmalee. She will need a large support network, and it sounds like she has one.

I think an amnio will be the only way she will know for certain.

Denae

 

[r3ngels]

Please don't get too upset until you know more.... I know that is easier said than done but I was in the same situtition, pregnant with my 2nd girl and then we found out she may have trisomy either 18 or 21 from an ultrasound. And we had to wait for the Quad test results (they are not very accurate, pls keep that in mind) and it was a month later that they did another ultrasound and everything was in the normal range and she was fine.

She is a healthy 7 yo (going to be 8 this week ) It was the worst month of my life. I wanted to come out of the ultrasound and call the world and tell them the sex of the baby instead I was preparing that my daughter my never make it.

I will keep your sister in my prayers that she gets good news.

 

[Barbossa]

Our DS had a calcium marker on his heart found during an early ultrasound. Our OB/Gyn's bedside manner was terrible, when we asked what that meant she said "it could be an indicator of Down's Syndrome", then promptly walked out the door. I agree, there's too much information these days. We freaked for a month until the amnio showed that our DS was OK. A lot of false positives, best wishes for an "all clear" for your sister's DD.

 

[mjkacmom]

The quad screen can not tell for certain if there are any abnormalities - it could come back as scary as a 1 in 2 chance, and the baby could be fine, or it could come back 1 in 50,000, and the baby could have downs or another chromosomal disorder. Amnio is the only way to tell 100%. Good luck to your sister!

 

[chris1gill]

Well, you mentioned the ultrasound and the quad screen, neither of those diagnose trisomy 18 or Down's Syndrome... They deal with percentages and possibilities that may or may never pan out in the end. I suspect the geneticist will want to do further testing, but it's up to your sister if she wants that testing or not....

You're right trisomy 18 does not end well, but I don't think at this point you have enough information to become very upset yet, just take it easy & see what the next line of treatment is.

 

[Toby'sFriend]

best wishes.

I agree, the key words there is these "can be" a sign. They are not definite answers. Right now what your sister basically has is an indicator that more serious testing might be indicated.

That "Quad Test" is notoriously unreliable. From what I can gather, the reason it is still used so heavily is that it is also non-invasive and pretty much risk free to Mom and Baby.

 

[goofy!]

I have experience with Trisomy 21 or Down syndrome.

My daughter has Trisomy 21; ie: Down syndrome. I am a past board member of the Mile High Down syndrome Association and have been on the parent volunteer committee for 15+ years, heading it for 2. This committee is where we visit new parents or prospective parents with positive amnios/cvs to give them information.

First of all, don't panic yet. Easier said than done, I've been there. But as all the others have said, the tests you mentioned are notoriously wrong. They are just indicators to look further. Most of the time, when you look further, everything is fine.

And don't read & believe everything on the Net. If you want to learn and since Down syndrome is the more common of the two, give a call to your local Down syndrome organization and get some current information. Some of the larger T21 organizations also either have some info on T18 or can refer you to an organization. The organizations always have somebody ready and available to answer any and all questions. And they are very, very up-to-date on all the screenings, what is going on in the medical community, etc. We live it, so we are usually the most up-to-date. And DON'T read anything more than 5 years old. So much is happening and changing that old data becomes obsolete very quickly.

And, at least for MHDSA, we are trained in that we can never give our opinion on what to do with a pregnancy, just to answer all questions with the facts. So don't worry that if you call a Down syndrome organization that you would be pressured or given one-sided information to keep a pregnancy. We don't judge, we just give you info. It is a very personal decision and only the family can decide what they can handle!

PM me if you need more info about Down syndrome.

And sit tight. Down syndrome only happens in 1 in 800 births, T18 even fewer. So your chances are very high that it is nothing!

 

[Hannathy]

Positive thoughts for your sister BUT I really have to object to the idea of folks on here to keep her in the dark and away from the computer etc. As a nurse I don't like hearing this. She has every right to know and learn everything she can with what is happening to her and possibly to her child. Ever hear of informed consent? It has taken a long time to get us to the place where we are now in being told everything about our condition possible before we make a decision. DR's used to do this and tell patients it isn't important for you to know I know best and this is what you should do, etc. I would be furious if my family knew something I didn't and actively prevented me from finding out. It would really hurt further relations with them. Would you not tell her she has cancer either to save her feelings?

As far as the computer, do you think you are the only person she knows with one? or the library doesn't have them?

 

[DisneyGoddess]

I lost my first baby when he was born to a very rare genetic disorder that at first was thought to be T18 so I am very very very familiar with testing and what u/s markers can mean.

I wanted to let you know that it sounds like the baby has 2 soft markers if the only 2 things they are seeing are an increased nuchal fold (the skin at the back of the neck) and possible calcium deposits on the heart. That means they could be nothing and could be something but are not sure indicators that the baby has T21 (Downs) or T18.

From experience T18 usually shows some major signs by 22weeks - rocker bottom feet, small chest, facial issues - often with the jaw, fisted hands with over lapping fingers... if none of this was found than that is great news!!

I am surprised the OB didn't recommend an amnio to rule out T18 since the Quad Screen is not very reliable.

I will keep your sister and little Emmalee in my thoughts and prayers. Update us when you can.

 

[JunieJay]

A good friend once gave me the advice: "Don't bleed until you're shot". Best advice anyone ever gave me. Try not to worry until you have firm results.

I'll be keeping your sister and her baby in my prayers.

 

[java]

Positive thoughts for your sister BUT I really have to object to the idea of folks on here to keep her in the dark and away from the computer etc. As a nurse I don't like hearing this. She has every right to know and learn everything she can with what is happening to her and possibly to her child. Ever hear of informed consent? It has taken a long time to get us to the place where we are now in being told everything about our condition possible before we make a decision. DR's used to do this and tell patients it isn't important for you to know I know best and this is what you should do, etc. I would be furious if my family knew something I didn't and actively prevented me from finding out. It would really hurt further relations with them. Would you not tell her she has cancer either to save her feelings?

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?

 

[Luv'sTink]

For Edwards Syndrome (T-18) try www.Trisomy18.org great site very informative. You will find families who are living with and have been affected by T-18.

We were not so lucky that everything worked out fine, Cody had full T18. He also had very clear markers on our 20 week ultrasound that was later confirmed by Amnio.

Although I understand wanting to protect your sister she needs to be informed to make informed decisions.

Good luck and a lot of times things do turn out fine.

ETA:Be forewarned that if you can not be respectful of the decisions families made based on their own beliefs you will not be very welcomed to this site.

 

[Minniemom97]

Unfortunately, my sister-in-law (my husband's sister) had a baby with Trisomy 18. She had an amnio done to find out for sure but her baby was born the day before her amnio results came back. On her ultrasounds, he had all of the classic symptoms (clenched fist, etc.) Unfortunately he passed on a day after birth.

However, she now has a 3 year old son. Her OB told her that Trisomy 18 is very rare and that the fact she had one child with it didn't really give her a higher chance of having another child with the same thing. They did keep an eye on her 2nd pregnancy. Also, when I got pregnant with my 2nd daughter, they told us that didn't increase our risk either.

God bless you all. I know it's hard to keep positive thoughts sometimes (I know, I had a scare myself with my 2nd pregnancy) but stay positive.

 

[goofy!]

Positive thoughts for your sister BUT I really have to object to the idea of folks on here to keep her in the dark and away from the computer etc. As a nurse I don't like hearing this. She has every right to know and learn everything she can with what is happening to her and possibly to her child. Ever hear of informed consent? It has taken a long time to get us to the place where we are now in being told everything about our condition possible before we make a decision. DR's used to do this and tell patients it isn't important for you to know I know best and this is what you should do, etc. I would be furious if my family knew something I didn't and actively prevented me from finding out. It would really hurt further relations with them. Would you not tell her she has cancer either to save her feelings?

As far as the computer, do you think you are the only person she knows with one? or the library doesn't have them?

I agree with you to a point. Especially after confirmed diagnosis. For this family, perhaps the decision is correct in not telling the sister about these websites. Every family has to make their own decisions on how to handle stuff. The sister seems to be in good hands. She has been told she has a slight chance of having a baby with a genetic problem (unlike your example of withholding cancer info). She is visiting a geneticist who will go over everything with her. The geneticist will give her facts and point her to reliable websites. She will get all sorts of information to use if the tests come back positive to help her make her own decision on how to proceed with the pregnancy.

As for Down syndrome, I can assure you with 100% accuracy that the misinformation about Ds on the internet far outweighs the accurate information. Which is why I suggested finding a local Down syndrome organization to get the latest and most up-to-date info from.

After diagnosis, I would agree with you 100% - become informed. Learn everything you can about the diagnosis. To be informed is to be a good advocate.

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?

Exactly.

Edited to add:

Here are some reliable websites on Down syndrome:
National Association for Down syndrome http://www.nads.org/
National Down syndrome Congress http://www.ndsccenter.org/
National Down syndrome Society http://www.ndss.org/

Some of these have message boards and you will get informed answers from people who live with Ds every day.

 

[NotUrsula]

He siad there was some calcification in the heart and the skin on the back of the neck is thicker than it should be. He mentioned that these can be signs of Down Syndrome (Trisomy 21) or even Trisomy 18.

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.)

My sister had her quad test last week and we are waiting on those results which I assume will tell us weather or not baby Emma has Down's, but would it tell if she had Trisomy 18?

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.

PS: As a science librarian, I can say that the internet *is* the best place to get your medical literature, because in many cases new medical articles are no longer published in print. However, by that I don't mean the open (free) internet, because very little reliable medical information is available for free. (And I certainly don't mean message boards, with the possible exception of OB-GYN-L). The only way you're going to get meaningful and reliable answers to these questions online is to go do your searching while sitting in the library of a medical school or at least a major university. Access to specialty medical journals and databases is expensive, and a lot of doctors don't have that access in their office environments, so they often don't read as much up-to-date information as they should. If you want to be really informed, you need to go to a library where you can reach the expensive stuff at no charge. Bring a little USB drive with you when you go, so that you can copy the articles without paying a fortune in print charges.