Looking for support - 19 week US had Down Syndrome indicators

tran0314

I'm looking for personal experience from anyone who has had this.  Whether their baby did end up having Down Syndrome or not.  The US showed the enlarged kidney and bright bowels.  (I know there are technical terms for these things)  So now I'm trying to arrange to have the blood work done that was suggested to me before we move across the country.  And at this point, an amnio is out of the question under the time constraints.  Any support or advise would be greatly appreciated.  TIA

Assembly_Reqd

Let me start by saying that I am sorry you are going through this uncertainty right now.

Our son does not have Ds but he does have a chromosomal abnormality which was not picked up by CVS. His brain malformation and dismorphic features via ultrasound (flat philtrum, broad nose bridge, odd tone in lower face) were also not picked up.

He did have a chorionic cyst that we were not told about. (I peeked in the envelope). According to my googling at the time, those cysts can be associated with a chromosomal error. But hey! We had a clean CVS! He had all his chromosomes and no trisomies. He was supposedly genetically healthy.

What I am trying to say is the basic testing for us didn't work. A CVS didn't work and neither would've an amnio. We were in the lucky 2-3% I guess.

If your dr is recommending one of the trisomy blood tests, then it will only find triplicates of 3 different chromosomes (13,18 & 21 I think) which should be only pairs. That is all the info you will get form those tests. Anything wrong with the other 20 pairs of chromosomes you will have to wait until birth to find out.

I wouldn't sweat this until you have to. The kidney was the only finding? The heart was good and the rest of baby looked ok?

tran0314

One of the kidneys was enlarged/swollen, and the bowels looked "bright". When I looked it up, the kidney is a "soft" indicator, and the bowels is a "hard" indicator. She mentioned there could be many other reasons to cause these things, but I think the fact that the 2 were at the same time, that made them question it. She did not mention any other markers, and everything else looked fine and healthy as far as I know. It's just hard to be in limbo not knowing, and really having to wait 20 weeks until he's born to know for certain. I'm still waiting for my doctor to call back to request blood work done. (my ultra sound was done at a different hospital, and one of their doctors, not mine, discussed the markers with me). It's been a roller coaster of emotions the past 24 hours, and I've just kind of been in a fog. Thanks for replying to me. :-)

Assembly_Reqd

You're welcome!

Everything will be fine. Really.

Either way, you can do this.

tran0314

I keep telling myself that.  And that it could be A LOT worse.  And feeling very thankful that nothing medically was wrong with him, and nothing life threatening.  It's just a lot to think about, and without knowing for certain is just making me kinda crazy! haha.

marchbaby

My older son had bright spots on his heart which is an indicator for downs, he does not have it.  My younger son had bright spots in his bowel, turns out I was bleeding internally and he was swallowing the blood and that was showing up as bright spots. 
I know how stressful it can be however, not knowing, especially with your move! 

preggersINschool25

https://meetinglauren.blogspot.com/

babylimas

My son has DS. We had an amnio immediately after spotting his heart defect via a/s. It was a shock, but at this point would not ask for anything to be different. He is a beautiful sweet baby and I adore him. I know you are very stressed right now and a positive result is terrifying, but know that you will love this baby no matter the circumstances. 

bliss611

I am so sorry you are going through this.

My 21 week US showed a "birthmark on DS's heart" as the doctor described it - seen in >50% of down syndrome babies but also seem in 3% of babies without the syndrome. We took our chances - no amnio and DS is healthy - no chromosomal issues.

What does your doctor suggest?

JToll

Hello everyone. I had a nt test done about two weeks ago. The doctor said the measurement was about a six indicating downs or turners. I am declining the amnio because regardless of the outcome I love my baby. If anyone had any thoughts or suggestions please let me know.
Thank you

PipSqueak0313

I also have a healthy boy with down syndrome. I found out through the MaterniT21 test at 13 weeks. We chose to have the test done so we could plan for his needs during pg and after. I preferred finding out during pg so I had time to ride the emotional roller coaster and enjoy all of his precious first few days (and beyond).

babylimas

kitchencolors said:

JToll said:

Hello everyone. I had a nt test done about two weeks ago. The doctor said the measurement was about a six indicating downs or turners. I am declining the amnio because regardless of the outcome I love my baby. If anyone had any thoughts or suggestions please let me know.
Thank you

Ask your doctor or genetic counselor about the cell free DNA tests.  They are just blood tests but have accuracy similar to an amnio for certain abnormalities. 

I have a daughter with Down syndrome.  I promise that my decision to have an amnio when I was pregnant with her was in no way related to my love for her.

I'd say depending on your odds it would be prudent to perhaps push for monitoring the pregnancy as though the baby does have some chromosomal abnormality to ensure that potential health problems are identified in a timely manner.

Best of luck with your pregnancy.




I agree. I had an amnio and it was in no way indicative of the love I felt and now feel for him.