Special Needs
SoulChild
member
High Risk for Downs and 2 Vessel Cord
SoulChild
member
Hello Ladies;
This is a repost from 2nd tri. and High Risk.
I was told that my AFP screening came back positive for Downs. The numbers were 1/67. We were sent to a Specialist who conducted a Level 3 US and said that he did not see any visible markers for Downs. But what he did see was a 2 vessel cord.
So now he has recommended that I get an Amnio done to rule out Downs or any other abnormalities.
Have any of you had an Amnio and how was your experience? Anyone have experience with 2 vessel cords?
I appreciate your feedback and reassurance.
-TIA 
BTW..we found out its a GIRL!
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Re: High Risk for Downs and 2 Vessel Cord
We had CVS and learned our baby girl has Down syndrome at 11.5 weeks. We haven't had many soft markers, but we've had the hard ones: Increased nuchal fold and AV canal defect (heart condition).
We've found www.downsyndromepregnancy.org very helpful. I think we had a rare excellent genetic counselor, who I would recommend to anyone - Genetics IVF institute, they've been doing CVS forever and understand Down syndrome WELL. I was worried that I'd get pressure to terminate, and I was pleased that I did NOT. I teach Special Ed, and the doctors were very aware of that and spoke to me as a person with some background in disabilities.
As far as markers, I do not think we have a 2 vessel cord, but honestly, we've been through so much crazy medical stuff, I have no clue. I know that they said they see a nasal bone and she has short femurs.
I found out that my son had Down Syndrome when he was born. He did not have any typical soft markers during pregnancy, but he did have the hard marker (heart defect). They thought something was "up" while I was pregnant, but nothing pointed toward DS specifically. I did not have any genetic testing or an amnio (it was strongly suggested at 33 weeks and the option to terminate was offered...still chokes me up that it was even an option), so we didn't find out about the DS until birth. I can tell you that my cousin-in-law had twin girls right after me, and one of the girls had a 2-vessel cord and was at risk for DS...she doesn't have it. Honestly, you just never know, no matter what the numbers say.
The choice for an amnio is a deeply personal one. At the time, we declined the testing because no results were going to change the fact that we were having our boy. In retrospect, I think knowing for sure would have eased some of my nerves, because the not knowing was absolute emotional torture. On the other hand, we had prepared ourselves for whatever baby we were given, so when he was born his diagnosis wasn't very difficult for us to handle. Actually, now that I'm typing this I'm completely thinking on the spot, and I think no matter when you are handed a diagnosis (before or after birth), you still go through the emotions either way. It's a tough decision...whatever you decide will be what's right for you and your family.
I also want to say, that if your DAUGHTER (congrats, by the way!!!) does have Down Syndrome, it's going to be okay! There is a really great support network for DS out there, and your little girl will surprise you constantly. No book or chart or website or even classroom interaction can accurately paint a picture of what raising a child with DS is like. It's incredibly rewarding...more than you can imagine. Good luck to you guys and enjoy your pregnancy!
According to our geneticist, a 2 vessel cord is a "strong" indication that there is a genetic anomalie. It does not mean that there is one for certain, but it is one of the genetic red flags.
Now, many "healthy" people walk around every day not knowing they have genetic translocations, etc. because the anomalie has not impacted their development. Just because a person does not have perfect chromosomes does not mean they will have problems.
In our case, DD had a 2 cord vessel and does have an unbalanced chromosomal translocation (not at all related to Downs or any other known syndrome). She does have a few different conditions (most likely caused by the chromosomes). Our geneticist told us later that an anmio would not have detected it because her deletions/additions are so small and are not common (in fact, she is currently the only one in the database with her particular chromosomal map).
We did have an amnio after they found a heart defect on the 20w ultrasound. The amnio was not painful and it is done under ultrasound to be sure of the placement of the needle. I had no cramping or pain after the amnio and the risk for miscarriage is very low. We did find out our son had a genetic syndrome and we are so glad we found out before he was born.
Hope this helps!
I had 1 in 3 chance at the NT screen. I had a CVS, and several other follow up test and everything was fine. My SIL had an amnio to rule out Digeorge's after her son was diagnosed with tetrology of fallot at 20 weeks. Again, he was fine other than the heart. (He is all fixed now:-)
I went to a practice for the CVS that has doctors who only do CVS. They are very good at it. That is what I would look for. Practice makes perfect is true in this case.
We have a similar situation (not Ds but something else). We are also the only ones in the genetic databases with 3 microdeletions located at the same addresses on Chromosome #1.
I had a CVS at 10 weeks. We were told we were having a "genetically healthy baby boy". Umm, yeah...
We opted out of the amnio. My twins both had single umbilical arteries which had never been seen before at our high risk practice. We lost our twin A at ~17 wks. Our twin B was given a fetal echo in utero to carefully monitor his heart. He was born very healthy. 6 months later we discovered he had craniosynostosis which has recently been repaired along with a hypospadius repair.
Other than that, he is a very healthy, thriving 1 yr old .
Big - 1 year old
Bigger - 6 years old
Biggest - 13 years old
I had a 2 vessel cord and opted out of doing any of the first trimester screening or the amnio. I was told that there was a chance my DD would have Down's but I figured I could live with that. It was also discovered that my daughter also had a VSD (hole in her heart).
My DD was born 3 weeks ago (3.5 weeks early) and my world was changed forever. My daughter has Trisomy 13, which is a fatal genetic anomaly. The amnio would have told me this but it would not have changed the outcome since abortion was not an option for me.
In general, I didn't worry about the cord during pregnancy because it could mean something or nothing at all. I also think having an amnio could possilby cause you to not "enjoy" your pregnancy in the event something is discovered. But do what you need to do for peace of mind. I knew I was going to have my DD regardless so it was no need in stressing myself early