Negative CVS but soft markers???

[vegbear]

I had a CVS at 10weeks-baby came out all clear and we found out its a boy.
Jump to yesterday we had our 18 week us scan and they found shortened femurs and humerus-2 weeks behind.
They also told us his penis is VERY small-like almost not even there :(
I was given the choice of having an amnio (but I had CVS so...???) having a repeat u/s in 4 weeks or ending the pregnancy by 20 weeks--
Now all of this is making zero sense to me-I feel that all is really ok-but I don't know if I am just in denial..
I need any insight from moms (good, bad and ugly) to figure out what this all means!
TIA

[saydigirl]

I had the CVS procedure done with boys of my boys. One transvaginal and the other transabdominal. They are now 5 and 2. They do, in my opinion, have very small penises. I have mommy guilt and strongly suspect the CVS procedure was the cause. Their pediatrician says they are okay and they will grow at puberty.

How is your son now? I'd love to chat.
Thanks

[PamelaBee]

Ooops...rockermom, you are absolutely right...I had no idea CVS did not detect neural tube defects.  

[rockermom13]

I feel like I've just had a crash course in genetics after going through this last week. Here's what I've discovered, maybe it will help alleviate some of your concerns. The CVS is not the same as an amnio as it only tests for chromosonal abnormalities whereas an Amnio will also be able to diagnose other problems like spinal bifida. The CVS (and Amnio especially) are however, the far more accurate tests and ultrasound can be misleading. I was told everything looked good on my ultrasound and yet my amnio came back positive for Downs. An ultrasound is very accurate in diagnosing structural abnormalities though and unfortunately there are other things that could lead to short femurs like dwarfism and I pretty sure an amnio could rule this out as well but please talk to your doctor as I'm not positive about that. Also, it happens more often than you would think that everything is perfectly normal and they are just being overly cautious. I would not terminate at this point considering the CVS came out good, you could very well be losing a perfectly healthy baby. Is there a genetics counselor at your doctor's office that could go over these results with you? I bet everything is going to be ok. With a good CVS the odds are greatly in your favor.

[vegbear]

Thank you ladies! This is why I am so confused!!!!! It all just makes zero sense to me and my husband.  I think we are pretty intelligent people and I don't think we are in denial or anything it all just does not make sense! SO what if his limbs are short?  My mom is 5 ft. my dad is 6ft 4 my husband and I are both 5ft 7---so what? And about the penis the tech who did the u/s commented twice that he was "very active" and it was hard to get a good picture... I woke up today and thought I can not end this pregnancy on this bit of info-no way! What happens if I terminate and he is found out to be fine?? How could I live with that? So I am calling my OB today and demanding a new specialist and a new u/s pronto!!!!! I am not getting the amnio as I like all of you feel it said he was "NORMAL" so what can an amnio tell me--and when I ask this of them they give me the run around without any real answers...
Thanks to you all wish us luck!

[Victoria01]

I agree with the others. I really think you need to get a second opinion and do more testing before making any decisions. I am also, like the other posters, curious why the CVS was normal and they are now telling you these other things. I think a second opinion is needed before you decide anything.

[redBlues]

i perfectly understand what you are going tru.

They sau amnio results are 99% accurate.I had mine and they all came back normal when I was 18 weeks preg.However I knew nothing was fine.I just felt it also my belly was too small...

So although they told me that amnio came out all normal ,I've asked for another ultrasound and more testing.And they were able to see that the baby had seriuos problems?No kindney,no bladder,big cycts,hearth problems etc.They told me that even if I don't end the preg. any time soon,the baby wouldn't be able to make it...

I had ended at week 18..

So if you have any doubt,think more,,do more testing,don't end the preg. immideitly,get a second opinion....

good luck

[PamelaBee]

That doesn't sound right to me.  A CVS is as accurate as an amnio. It should also overide a Level II u/s.  There's a huge difference between femur/humerus being short in length, or measuring 2 weeks behind...that is two seperate things.  The small penis...well he is only 18wks!!  Don't worry, I'm sure all is fine.  And...why they would suggest you have an amnio in addition to the CVS doesn't sound right either.  Why did you have a level II u/s after the CVS?  What were your results from the CVS?

[Ecologic]

I have not gone through that but I certainly would not end the pregnancy without knowing more! I too am confused as why the CVS was normal but now they tell these weird findings. I know of a woman that was told twice at 20 weeks that she was expecting a girl - so no penis was seen - and her 2 boys were born perfectly normal!

I think I would try to get a second opinion immediately. Try to go see a high risk pregnancy center.