Worried about my twins!! HELP!

[jennyfer976]

Well yesterday i went for my level 2 ultra sound. I am currently 22 weeks pregnant with twins. Baby A is a girl, and as far as they can tell healthy and normal weighing in at 1 pound and measuring correctly in all other areas. The problem is with baby B who is 3 weeks behind developmentally and now is presenting with a hole in her heart, an enlarged heart, 2 vessels on the umbilical cord (normal i guess is 3 vessels) and clenched fists. The know the baby has a heart defect and suspect a genetic abnormality. I am 27 years old and this is my first pregnancy (I used IVF to concieve) and have no family history nor does my husband of any genetic disorders and I guess my questions are as follows:

1.  Can amnio be done later in the pregnancy to confirm a genetic abnormality
2. Has anyone else heard of coushin defect in the heart along with these other abnormalities and not had be a genetic disorder?
3. Does anyone know the risk rate involved in amnio? Or does anyone know of any other way to diagnose a genetic disorder at this point or confirm one?

Any help is greatly appreciated. The doctors recommended the amnio to me at this point 22 weeks, but I am afraid of going into preterm labor and loosing both babies. I would rather wait on the amnio if possible, but am not even sure they can do the test later than 22 weeks as I've not much heard of that before. Also the doctors are wanting to diagnose the genetic disorder to see what precautions we can take or how to proceed and prepare for the birth of the child .....thank you for your input!!

[jennyfer976]

Thanks again everyone...I appreciate it. today I will be seeing my doctor again so we can come up with a plan to closely monitor the pregnancy and go over all again. I know the best thing to do is to stay calm and try to not stress as thats not good for the babies. so I am doing my best with all of this. . . def. not an easy situation. Today i plan to ask more questions and will see the babies again on ultrasound too... i will keep you all updated as i know more.

[ArmyPrincess819]

I had a pos afp with my 3rd baby and I was 17 wks and had a amnio and a level 2 u/s. The tech told me there was cysts on her brain. I continued on with the pg and she is not a downs baby she is perfectly healthy. It is really up to you if you want the amnio. I wish you the best and good luck. Let me know what happens.

[ashiepooh]

Well, that's good!  Keep us posted on what's going on!  =)  You can message me if you would like to talk more or need to vent!  

[jennyfer976]

Thanks, I def. will continue to ask about baby A although my doc says no risk to that baby if I leave baby b alone. That was my main goal at this point to protect A. I am not afraid of needles lol, i did IVF so I'm not worried about shots in the butt, or even too scared to have amnio, because thats not my concern at all. I just want the lowest risks possible to both of these little ones that took me 5 years to conceive.

I know it sounds like i've already made up my mind here, but the truth is its not an easy decision so I go with what I know now and just hope maybe someone can put it into perspective in a diff light so I can view all options. My doctors have been great and so has everyone on here. I appreciate all the help and of course welcome more responses.

[ashiepooh]

If it were me, I guess my concern would be, is it something that could affect Baby A?  I would ask your doctor this, (if it were me that is)   If Baby B, doesn't make it in the utero, would it affect Baby A, and need to be delivered asap?  Or if Baby B's condition gets worse (since I assume they are going to do bi-weekly u/s) would that affect Baby A?  I mean ultimately it's your choice for the amnio, so whatever you choose is best for you!  

But I would just make sure, that Baby A wont be affected in anyway, if for some reason something were to happen to Baby B.  I would also assume, your doctor will likely give you the shots to speed up lung development, maybe around the 26th week or so.  That, if you don't know, is two shots, 24 hours apart from each other, in your upper butt cheek.  They also, wont put it in the same side.  

Well, good Luck with your decision, I know it's not an easy one!  I hope everything goes smoothly!

[jennyfer976]

Thank you all for your responses. If my baby does have a genetic issue along with the heart problems what good is it knowing that? I guess thats my concern now. Does it help me to know that the baby has a genetic disorder when not knowing causes no harm? I understand that if I found out that I could better plan which hospital to deliver at, but my doctor already plans to have me deliver somewhere the best care is available no matter what the situation so amnio results wouldn't change that....also finding out could let me know how to best handle the affected baby after birth (such as a comfort plan for the infant if a fatal abnormality is found) but already this baby is so challenged with the heart defect, being 3 weeks behind in development and all the other odds against it comfort may be the only plan, despite genetics so why would knowing amnio results help? Of course I am going to proceed to make that baby comfortable the minute they are born if the pregnancy progresses that far. Finally I guess my reason for not doing the amnio is argued because if I don't do it baby b is assumed to be viable and therefore they would want to intervene as much as possible to save the baby. . . well my doctor and I discussed the levels I would feel comfortable going to to intervene. Since baby B has the heart defect and is 3 weeks behind baby A we would consider that before say delivering them both early to save B. that option would only work if both A AND B had a chance to live a normal life after being delivered early. If not why risk baby A's life for baby B? I would never deliver early to save baby B from heart distress if I very well knew baby B had little to no chance of surviving due to being so far behind in development and not weighing enough or having developed lungs. So its something I could play by ear without disturbing babies with amnio...I see all your points too, just hurting so much and not wanting risks at all if i can avoid all together. I welcome more responses as they are helping me view the situation from all perspectives and thank you for your compassionate responses.

[ashiepooh]

I had an amnio done with my son, at 24 weeks!  Because he has a kidney problem, so we wanted to make sure if there was any other deformalities.  They do it with an u/s machine on the babies so they make sure not to hit the baby with the needle, and it's just a small discomfort and 24 hours of taking it easy!  It will tell you if your baby has any sort of problems.  In my opinion it's better to know ahead of time, so you can prepare yourself, research etc.  But Joy is right, the longer you wait, the less room you'll have to not poke the baby!  Also, the average mother carrying multiples, delivers from 28 weeks to 32 weeks.  Some make it farther, but with the more babies you have the less of a window you have.  If it were a singleton baby, you could have an amnio up to 26 weeks, and then if there is problems that percist they do it after 32 weeks.  Usually to check for lung development.  

[peekawho]

The main issue is that your doctors are concerned that the cluster of findings (the hole, the enlarged heart, the clenched fists, the 2 vessel cord, could indicate a congenital anomaly.  Each thing taken by itself would not necessarily indicate a possible serious problem, but all of them together are more worrisome for a genetic issue.

That's why they are recommending the amnio.  

Again, amniocentesis done with by a skilled provider who does them often is not associated with a high risk of pregnancy loss.  Its best to find out soon, so that you and the doctors can be best prepared for the situation.  

[peekawho]

I replied to you on another post:

If you can, try posting your question here:
http://www.medhelp.org/forums/show/104

Doctors with lots of experience answer questions in that community, but there is a small fee associated.

I'm not a doctor, but I'd have to say the earlier the better on the amnio issue.  With a skilled doctor (and it sounds like you are under the care of good docs) the pregnancy loss rate is low.  

You may need the genetic information when it comes down to what care to provide when baby B is born.   If there is a lethal genetic anomaly, it will certainly influence the direction of intervention towards providing only comfort care.  If there is not a lethal anomaly, the doctors would need to know this to be sure your babies are delivered where there is excellent neonatal cardiac care available.    

With twins, you have a higher chance of preterm labor, and knowing the genetics sooner rather than later may really help.  

Good luck.  What a difficult situation.

[Crysi]

an amnio can tell you 100% for some genetic disorders (such as downs) which from what you are discribing is what they will be looking for (hole in the heart is very common in children with downs)  I can see how testing would be benificial (for the birthing etc) so I would talk to your doctor get all the risks factors and wait as long as possible in case preterm labour occurs. Best of luck!

[worriedbabe]

i would refuse the test if it was me.

[JoyRenee]

Oh and some babies do fine with 2-cord umbilicus. Did the doctors say anything about that?

[JoyRenee]

The problem with amnio is that there won't be enough room to get a sample without poking one of the babies because they are larger and there are two of them (with one it might've been possible). Plus it has an increased risk of killing them both.

Some babies do have problems found via ultrasound that correct themselves before birth. However it's difficult to even use genetic screening tests because they can only tell you the probability of a problem; not whether or not your baby has one.