Not sure where to post this but need help!
We have had a number of complications with this pregnancy-
8w u/s-showed small sac-
10w u/s-small sac but baby growing and on target for 10 weeks
12w NT scan-NT fine-blood work 1 in 5 chance of Downs I was also told that I had a low Papp A protein and high HcG-which showed poor pregnancy outcome
had CVS-we were given the all clear found out its a boy 
Went in today for my 18w anatomy u/s and was told that everything on our baby is growing normally EXCEPT his long bones in his arms and legs are measuring at 16.5 weeks instead of 18 and his penis is "very abnormal" they do not think hermaphrodite as the chormosones (sp?) dont match with that illness-but they do think our son has some genetic issues-as in a 50/50 chance-they want me to have an amnio done--but really is there a point?? and when I ask what issue this could be I get everything from dwarfism to things I can barely pronounce nor understand fully.
I am asking you mamas if any of you know of anyone who has been through this or if you have gone through this and what I should do about it? I feel more tests won't show me anything conclusive anyway so I don't want to bother--BUT if my child has issues I would like to know so we can prepare..
Any insight??
TIA
Brenda
Re: Not sure where to post this but need help!
It's a hard choice. There is a chance nothing could be wrong or the amnio could produce false results...
I guess it comes down to, how much do you want to know? Will it make a difference for your pregnancy or after you have the baby? If you are the must know everything going on kind of person (as I am), it would probably be worthwhile to get the amnio.
Good luck with your decision!
Ok, I had a similar experience and I will share. Not the good news I'm sure you are looking for but it is my story and I understand how freaked out you must feel.
Everything with my pregnancy and all ultrasounds and tests were completely normal until our 18 week fetal survey. At that US it showed a 2 vessel cord, a possible heart defect, a small stomach and her hands and feet looked "abnormal". The only thing that was certain was the 2 vessel cord- everything else was speculation.
Next day I had an amnio that came back normal. I went to have a fetal echo of DD's heart- normal. I went back to the perinatologist at 20 weeks for a repeat US. Still 2 vessel cord but heart normal and stomach normal. Hands and feet were still difficult to visualize so we were sent to a very experienced radiologist a few days later to look more at the hands and feet.
That ultrasound showed essentially normal hands and feet- the radiologist couldn't confirm perfection but there were no gross abnormalities.
Subsequent ultrasounds throughout the rest of my pregnancy showed her growth getting slower and slower. Finally at 38 weeks I was induced for IUGR. She was 5lbs 9ozs at birth. And that's when everything was revealed and my life fell apart.
At birth she had only 9 toes and her hands, feet, fingers and toes are all very small and slightly disfigured. She also was born and has developed many other things that were not apparent on ultrasound and never could be. She has a tethered cord/sacral dimple, hearing loss, coloboma in her left eye, heart defect (so much for that stupid echo), seizure disorder, global developmental delays, slow physical growth and dysplastic hips. I was completely unprepared in pregnancy for all of her issues. To this day she has an unknown genetic syndrome. I don't expect to ever know what is the cause of her disabilities and defects.
I've come to realize that ultrasounds have limitations. There could be problems with your baby that you just will not know until he is born. Unfortunately, there is just no way of knowing now what will be the full extent of his issues. I don't means to be a downer, but no amount of limited info you get from an ultrasound and chromosomal test will fully prepare you for bringing up a child with multiple medical issues.
I really hope in your situation that his defects are minor, not life threatening and easily fixed. Your son will be beautiful, nonetheless.
I'm in Seattle too so you're in luck being in a city with so many great specialists- especially geneticists. Please PM if you need any recommendations or want to talk further.
We also had a similar experience to pp. Everything was normal up to 20 weeks then bam everything changed. Saw the heart defect, knew it was serious, told it could be genetic and went for the amnio (which by the way was not that bad). When the results came in it was exactly what they (drs) expected it to be, but it didn't really answer anything for us. What was wrong was completely un-fixable, just treatable so there was nothing to do but wait until he arrived. No matter what we were having that baby, so we used the time to get educated about the disorder and deal with the grief that comes when you shatter the dreams of a perfect little baby joining the family. By the time Matty arrived we felt confident we could handle whatever issues came up and we did.
You have to do what feels right to you. If you don't believe in doing amnios then don't do it, if you just need to know so you can prepare then do it, and don't let anyone tell you that you made the wrong decision...no matter what you choose.
I'd love for this to be the part where I tell you that it all works itself out and everything will be okay, but thats not why you came to this board to ask. Cause thats not really what happens over here. These are amazing women all of whom have been through some kind of experience, like yours, mine or even more, and wonderful things happen for the LO's of these women everyday amindst all the hard and trying times. But what you will get is a group that can be there to share in the trials of your future. They can comiserate with the eighty-billion dr's appointment, hundreds of specialists and deep seated loathing of people who try to treat/say their kids are anything but perfect.
Yeah, so I got a little worked up, sorry. HTH.