May 2014 Moms

Clinodactyly - Soft Marker for Downs

We went for our level II US today and found out that we have a baby with clinodactyly - or a curved little pinky finger on each hand. They brought us in to speak with the perinatologist and apparently this happens in 2 - 4% of normal babies but 60% in babies with Downs Syndrome. We declined the first trimester screen so not having anything to go off of but this finding, has us worried. We did elect a non cell DNA test called maternit21, which was quick blood test and we'll have results back in a week. There were no other markers found and the genetic counselor didn't seem worried being that this was the only marker, but had to do her job and give us the facts. The outcome does not affect our decision to keep the baby but certainly is a lot for us to wrap our heads around. Anyone else have any experience with this?

Re: Clinodactyly - Soft Marker for Downs

  • I have no experience with this but I just wanted to wish you good luck while you wait for the results.
    GBCB!!! Regs, lurkers and newbies we are leaving TheBump. Come join us at the new place ****/board/50/14 image
  • Loading the player...
  • I don't have any experience either but I wanted to wish you well. I can only imagine how you must feel.
    Pregnancy Ticker
  • I'm sorry that you are going through this stress right now :(I hope that everything goes well for you.
  • Aww hugs to you.
    I was born with a bent pinky finger, I don't have ds, it was just a congenital birth defect. I got it straighten when I was about 11.
    Also, dh has two nieces that each have a bent toe; another marker for ds but it's just another birth defect.

    I hope the DNA test comes back normal.
    Lilypie Angel and Memorial tickers 

    BFP #1 Jan. 2011 - mmc Mar. 2011 
    BFP #2 Aug. 2011 - My sleeping angel Stella, born April 21, 2012 
    BFP #3 Nov. 2012 - mmc Dec. 2012
    BFP #4 April 2013 - mc May 2013
    BFP #5 Sept. 2013 - EDD 5.24.14
  • I do not have this specific marker experience, but my son had a soft marker for Down's at his A/S and Level II.  It was the only marker and at the time, the only further test was amniocentesis which we declined.  He was born perfectly healthy.  I know it is scary to hear this kind of news, but the odds really are still in your favor.  You will be in my thoughts.
    Anniversary 
    Baby Birthday Ticker Ticker
    Baby Birthday Ticker Ticker
  • On Monday our perinatologist found an EIF on the heart - also a soft marker for downs. I never had the NT test, nor will i have an amnio, but I too opted for the blood DNA test. I find out in 7-14 days from this past Monday. The waiting game is the worse. I believe he told me my odds were 1 in 700. Good luck to you. Hopefully we both hear before Christmas ... 
    Baby Birthday Ticker Ticker


    BabyFruit Ticker
  • We had two soft markers for Ds at a 16w u/s (echogenic bowel and short femurs), and Mat21 came back with results of typical chromosomes.  It is a long wait to get the Mat21 results, but it certainly provided peace of mind, and if had come back with a Ds result, it would have given us lots of time to prepare.  I'm sorry your a/s didn't go as planned - it's hard.  Good luck.
    DD - 12.14.10
    Always missing little Phoebe 22w5d (4.5.13) - diagnosed with TD Type I.  
    DS - 5.6.14
    CP - 2.25.16
    Surprise BFP - 6.8.18 - due 2.17.19
  • Thank you all so much for your T&P!! This waiting game is hard! I'll let you know what we find out. 
This discussion has been closed.
Choose Another Board
Search Boards
"
"