Pregnancy abnormailities 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!!

[peekawho]

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.  

[evthing4reason]

This must be alot for you to take in, espeically if you needed ivf....you've had a lot of stress. I would make sure to have a second opinion before making any decisions. I had an amnio done and i did have quite a bit of cramping (but also knew my baby;s survival rate was 0%, so i wasn't concerned about preterm labour when i made my choice). You have a second baby to worry about, so that would be something to fully discuss with the Dr. I do think it would be a good idea to have done though. to be prepared for whatever is to come your way.