Not great news today....terrified an confused.

Just came from a doc appt and I need get this out. All along, Baby B has measured between 1 week to 10 days behind baby A.

Today I am 12w2d and A measured at 13w3d and B at 11w6d. Both within normal range, but the difference between the 2 is not so normal. Then doc told us that the nuchal folds of both babies are on the high side of normal. One is 2.2 and one is 2.9....the upper limit of normal is apparently 3.0.

There were 4 possible outcomes she gave us:
1) Everything is normal
2) Down Syndrome
3) Trisomy #? = death within a year
4) Trisomy #? = death within a year

I am a mess. She explained the options of the integrated screen vs. the amnio. We did the blood work for the 1st half of the screen today. But she said if we want to do the amnio, we could call and cancel the other 1/2 of the blood work in 4 weeks and schedule the amnio for sooner. I know she said the risk of miscarraige on an amnio is only like 0.2%. But the change of a hemmorhage is only 0.5% and I seemed to hit that lottery with my first. So when someone tells me there is a "small chance" now, I think that is me. We did 7 IUI cycles to get these twins. After all we have been through, losing one or both would be .........there are no words.

I don't know what to do or think. I can't imagine going 6 more months wondering about options 2, 3 or 4.

Anyone heard of this odd combination of things before?

Thanks all!
Jen

 

My very best friend from college has identical boys like me - she has a similar story - I have told it before - let me find the post and I'll cut and paste. Bottom line is that her boys are fine ... I'm not sure I have her nuchal measurements in my previous post, but I can ask her what they were - they were WAY off the charts, though. I'll post again in a minute ...

 

I have no experience with this, I'm sorry. I just wanted to offer some support.

We got a similar sit-down from our doctor during our pregnancy and they laid it out just like that. Samantha had gastroschisis but they ran through the possibility of it being several other things, what the statistic are on each, then they laid out the possibility of twin to twin transfusion and the statistics there. We left that appointment devastated and convinced that we would lose one or both of our girls. The reality is that we had it so much better than they ever gave us hope for. Simple surgery for Sam, no TTTS whatsoever, uneventful NICU stays.

What I'm trying to get to is this: They have to tell you the worst case scenarios. It's okay to be scared by them, but don't let it shake you. Go see another doctor and find out their perspective, if you can.

As far as the tests, this is how I looked at it: Would knowing that my child had Downs change anything for me? Would I be able to DO anything during my pregnancy? I answered no and decided against all further screenings at that point. None of potential diagnoses that you were given can be handled during your pregnancy, so you only have to decide what you're comfortable with. If you would like to know for preparation or peace of mind, go for it. If you are scared by the chances of complications, you don't have to do anything.

Do not google. Any. At all. It will only overwhelm you more. Keep your chin up, lean on your DH and family, and keep loving on your belly and the babies inside.

 

Okay - found the post - it was directed to someone who was asking about doing a sequential screen - I don't have time to edit it right now because the twins both smell poopy and are trying to scale my legs!!!! Here you go ... let me know if you would like more info. - as I said, I can ask her to dig out her nuchal measurements, I know she wouldn't mind (but I am confident that they were not in the normal range).

________

I used to not be too interested in genetic testing since I would not consider termination. BUT my best girlfriend in the world had identical boys three years ago. She did the nuchal test and the results were WAY off. She was given 1:28 odds for identicals with DS. Termination was not an option, but she did do an amnio so that she and her family could be prepared for the worst case scenario. Amnio was normal. nuchal measurements were so far off, however, that the peri was convinced there was a problem. With further testing they discovered that both boys had an A/V heart defect - one that is present in something like 75% of DS cases, which was why it was picked up in the nuchal measurement (it is not thought to be related to maternal age, either, as Downs can be). They had open heart surgery at 4 months, recovered beautifully and are completely fine today.

Her case completely changed my view on the testing. The fact that she and her husband knew what the twins' problem was - rather than waiting to find out after birth - saved a lot of mental stress. They were able to spend significant time researching the defect, interviewing multiple cardiologists, surgeons, etc. and have the luxury of time to make necessary decisions on a treatment plan. In addition, she was monitored very closely by a pediatric cardiologist in addition to her OB and peri. She has said more than once that she is so thankful that she had the information she did in advance - your brain is a little whacked out, hormonally, right after having a baby even if everything is perfectly normal!

All that being said - you are right that the odds are stacked heavily in favor of no problem whatsoever - I do not think it is foolish to forgo testing; I did with my first baby.

 

Jen, I am so sorry you are worrying about this. :hug: I don't know measurements either, but when my cousin was pregnant with her DS 4 years ago she was told that he was going to have Down's, but his measurements and testing. Her OB basically told her to expect the worst. Well he was born 5 months later and was perfectly healthy, no Down's or anything. :good: I guess my point is, you never know and tests can be wrong and mean nothing.

I do agree, please don't google anything, that only makes you feel worse (I have done that myself). I know it's hard, but try not to worry so much about it. :hug:

 

I dont have any advice, but did want to offer a :hug:
I agree, dont google, and it's good to see another doctor and get another observation.
We are all here for you and I am happy to see you have been given some great advice!

Take care sweetie!!

 

I am so sorry you got such scary news :hug: I think I would talk to the doctor more about what the numbers mean... the actual risk level that is associated with the measurements you have. The measurements don't mean that something is wrong; it's just a risk category they put you in, which could mean that it was only a 1 in 400 chance.

Once you know more about your risk levels you should ask yourself what you might do if you find out the worst. Would you terminate your pregnancy? (absolutely no judgement here, this is your personal decision) Would you just want to do the amnio for peace of mind? Would you be able to go through the rest of your pregnancy knowing that there was a possibility of something being wrong? If you can't live with the uncertainty, I'd say that the risk of the amnio is probably worth it. If you would just carry on through your pregnancy, then I would probably skip it and talk to your doctor more about what risks any of these potential health issues might have for your pregnancy.

It's not an easy decision, and I think sometimes the diagnostics induce more worry than needed. There are plenty of stories of babies with high numbers who are just fine, and there is also some degree of error in u/s measurement. Before you make any decisions talk to your doctor and even get a second opinion on the ultrasound if you can.

 

Hi Jen,

Sorry you had to hear such a news, I have no experience with this particular issue, but I want to share with you my story. Our son's kidneys were retaining too much fluid and they were too big at the 18 weeks ultrasound and at each ultrsound until 36 weeks. Just like you they sat us down and explained the risks, and of course, one was that everything is fine, it will work itlsef out, then of course, it could mean there was something wrong with his kidneys and he might need treatment or surgery after birth and the third option - it can be a Down syndrome sign... The thing work itself out by the 36 weeks ultrasound so he's fine, just like any other newborn. Needless to say I spent sleepless nights at the begining and I googled it to death... then I decided to relax, and accept that there wasn't anything I can do to control the situation. Please try to relax and don't google it! Good Luck!

 

This is my advice as well !

I have been through this and as you can see by my avatar, I have 2 beautiful little boys.

That being said, I'll tell you a little background info. Baby B was considerably smaller by height and weight. They looked to be about 2 weeks off from each other even though they were ID. They then discovered baby B had a heart defect and so the drama really started. I had genetic testing done .. I wanted to know if I was going to give birth to downs babies or whatever else could be wrong and so I could prepare myself and my family.
The genetic testing came out neg. for downs but inconclusive for trisomy .. I can't remember the #'s and such .. but I do remember feeling very worried.

I knew that baby B was going to need heart surgery .. but that's about ALL I knew.

All I could do was love my babies with all my heart and prayed hard each and every day. I also gave the babies "pep" talks and I have to say .. in all of my 4 pregnancies .. I have never anticipated meeting my babies SO much and what a relief to see them and be told that they were both fine ! Jesse, baby A, weighed in at 7.3 and Jayden, baby B at 5.5. There was about 2 inch difference in height .. but at present they are the same height.

Yes .. Jayden has a heart defect .. but with all the extra prenatal care I got .. we were totally prepared and now he is a happy, healthy 6 yr old boy.

My thoughts are with you and your babies. :hug:

 

So sorry to hear you got such alarming news. You must be so scared. Big hugs to you!!!

I know that my OB told me that the IPS results are actually made for singletons and NOT twins (and google can confirm that) so having the 2nd baby confuses and alters the results.

I know plenty of people who've had scares and have gone through and had perfectly normal and healthy babies.

I would do whatever is in your heart. If you feel you can not continue to wonder, then go for the amino.

FX for you. At least those numbers ARE still in the normal range - so keep that in mind too! That's a positive

 

Thank you for your stories/support. They help more than you can know....or maybe some of you DO know. I must admit to doing a tiny bit of internet searching before I came back here to read responses. I make sure to only look at medical reliable references. Your support along with my search actually made me feel more positive!!!!


Here is what I found from the British Medical Journal:
"About 90% of fetuses with a nuchal translucency measurement of 3mm (“high”) at 12 weeks’ gestation are normal at birth, while 10% have major abnormalities. Only 10% of babies with a measurement of 6mm (“very high”) at this time will be found to be normal."

My babies are only at 2.2 (which is very average) and 2.9. Not even over the danger #. I agree that the docs have to give you the worst case scenario.

As for the amnio - I don't care what these babies have, there is no way I would do anything to terminate them. We just worked so hard for them, that I will take what God gives me. But I guess I just look at it as a way to be prepared before they come so I can be strong and prepared for my daughter. But looking at my numbers....they are not that off. If they were higher, that would make me want the amnio more. But now, maybe not.

I have a lot of praying to do and talking with my hubby. He is amazingly strong, I wish he could teach me how to not break down.

Thank you all!!!

 

I am glad you are feeling a bit better. It's always reassuring to hear other parents' stories about these things.

 

Thanks for the update! I'm glad you're feeling a littler better. And I'm glad that you have a strong husband by your side. My husband is always so tough and it really helps when I panic.

Keep us posted but, more importantly, enjoy your pregnancy!

 

Sorry you are going through this stress!!
My baby B had a 2.9-3.0 measurement - the bloodwork was reassuring even though with twins it is difficult to assess - it lowered my risk significantly compared to just the risk based on age. Baby B is a totally normal little boy!

 

I just wanted to add, my friend was told last year that her baby more than likely had trisomy 18. She was devastated for a month while all the test results came back and guess what?? Not a darn thing was wrong with the baby.

 

Very sorry you are going through all of this. My twins measured two weeks difference between the two and they turned out perfectly healthy. I went several months worrying myself to death because at one point my pedi said that twin A had enlarged brain ventricals and then after that I was told baby B's head wasn't growing. I think the most horrible thing is the whole "wait and see" part of it. I do agree with all other pp about not looking things up on google. I did that and it just added to my worries.

just curious- what is a nuchal fold?

 

Nancy - thanks for your input on your nucal fold...I am doing the blood work, but I know not to pin too much on it due to twins. I love hearing that the same thing was nothing for someone else.

KeriU - thank you so much for your story about the size difference. I have been more worried about that because they tell me at every appt. When I search or go posting on this board, all I really want to read is "the same thing happened to me and they were fine!" The nuchal fold is the space behind the neck that collects fluid at this stage. I guess a measurement too big could suggest problems. Never knew what it was with my first either because it was never an issue.

 

Just remember that the four scenarios aren't equally likely. (It's not a 25% chance of normal).The overwhelming odds are that everything is fine.

I have a friend whose daughter has Down's. It's obviously a difficult road to travel, but it's not a death sentence. Her daughter is an amazing, loving girl who is doing everything my kids are doing--just on a different schedule.

 

My 2 were always about 20% different in size. I think it is not that uncommon with fraternals.
The good thing for you is A is bigger, if you are trying for a vaginal birth, they want to A to be bigger or at least no more than 20% smaller than B. The worry is if B is bigger he may not pass through the canal. Your big baby A will pave the way for B to fly right out!!

Hang in there. I swear US are helpful but also so stressful since they see some tiny thing that is probably nothing and we worry like crazy! Just in case they tell you a baby's kidneys are enlarged, I had that also for 2 of my 3 and everything was resolved by 36 weeks and no issues after birth.

 

I am so sorry that you are going through this. My cousin is pregnant with a little a girl, due in Feb, she was told the babies nucal folds were abnormal. They were thinking trisomy 18. She had an amnio, and everything came back normal.

As for size difference, there was always a 5-6 day difference between my boys, William my baby B stopped "thriving" at one point. THey were both born perfectly healthy.

I agree don't google! Again good luck.

 

I am a genetic counselor, the 4 options you were given are not correct... I mean they are, but those are not the 4 only options (and the 2 trisomies you were looking for are 13 and 18 and please do not look them up online, they are pretty gruesome but also really rare!), nuchals are also increased for example when there are heart problems (small and big), so another "option" would be there could be some minor problem with the heart. I never give my patintes options because they seem limiting, what you need to know is most probably the babies are ok, there is a small chance that something (from a variety of things) could be wrong with them.
A lot of babies just have "fat necks" for no reason, and that water reabsorbs, which is why nuchals are not used alone as an indication for the need for an amniocentesis. The 3 cut off is already pretty conservative, what I want to say is, a nuchal of 3 does not mean: something is definitely wrong with your baby, it means something may be wrong.

Also an amnio cannot be done prior to week 15 or 16, depending on your centre, BUT the blood tests are not as accurate in twin pregnancies than in singleton pregnancies and it will only give you a risk calculation, something along the lines of 1 in 300 chance of something wrong or 1 in 10 or 1 in 10.000. If you want absolute certainty that it is not Down syndrome (or T13 or T18) you will need an amnio, the risk is minor, around 1% of pregnancies are lost after an amnio, slightly higher in twin pregnancies.

You have many options, at this point the amnio and the risk calculations will be available at around the same time, earlier than that you could get a chorion villus sampling, though it depends on your placentas and if your centre is happy to perform one on a twin gestation. This also has a small risk of about 1-2% (or slightly higher in twins) of miscarriage.
If you wait for the test results and once you know your risk for the bubs, you can decide if you want to go ahead with the amnio or not. If for example the risk is only high in one of the two babies then you would only need one amnio instead of having both babies' fluids looked at.

I am really busy tonight and not sure if this makes any sense, but feel free to PM me, I will be online tomorrow I am pretty sure, so I would be able to answer your queries, I wish you a nice new year's eve, M.

 

I am sorry you were given such scary news. You and your family will be in my every prayer. Modern technology is great BUT it can be misleading and scary, too! Keep us posted!

 

I don't really have anything to add, but I just wanted to say my thoughts are with you and I hope everything turns out okay.

 

I'm another praying that everything is ok. :hug:

 

I hope everything is OK.

FWIW. One of my DDs had a thickened nucheal, ecogenic bowels, large head measurements, and a brain cyst. We were terrified. Alone, each of these is just a small red flag---together, they were thinking something genetic for sure. Well, the cysts resolved by week 22, the bowels were unexplained, and the nucheal fold was 3.something. We declined further testing on the grounds that we would carry them to term no matter what and test results would not change anything. DD did have extra fluid in her very large head, but really after an MRI at age 1 it was determined to be an incidental finding. She simply has a large head and extra fluid does her no harm and is just the way she is made.

Also Ultrasound is not an exact science- it is a very useful tool to determine fetal health. BUT there is a margin for error. My DDs weights were almost a lb or more off from U/S prediction at birth.



DDs were born early (PTL), but both are healthy 5 years olds with only issues that are related to prematurity- nothing that they geneticists talked about.


:grouphug: