2 Soft Markers found at anatomy scan yesterday — The Bump
2nd Trimester

2 Soft Markers found at anatomy scan yesterday

Has anyone ever had 2-3 soft markers for Down's Syndrome and had the baby be healthy and fine? One soft marker was an Echogenic Cardiac Focus (just one), the other was the kidneys were slightly enlarged (one is 5.5mm and the other is 5.7mm). The doctor also mentioned the dilation of small bowel, but I don't believe that is really a soft marker of Down's Syndrome. He has referred us to a genetic counselor, and I will probably opt to have an amnio if recommended...but I'd like to hear some positive stories. I've been crying since we left our appointment yesterday and I'm just at a loss. We initially opted out of the 12 week blood test because our risk for any chromosomal or congenital defects was so low. We literally have no history of anything in our families except for one aunt with juvenile diabetes. DH and I are both 29 and healthy. My OB does not seem very concerned, but he says he's not an expert so he'd rather send us to one. 

Just hoping to hear some positive outcomes, please. 

Re: 2 Soft Markers found at anatomy scan yesterday

  • In one of my pregnancies certain tests showed my daughter was at a higher risk for genetic abnormalities but she did not have any. I know its not the same but the screening tests like an ultrasound are only screening. Before having an amnio I would have the blood test. If that shows down syndrome is likely then you can decide if you want the amnio. Being young and healthy doesn't mean there is no risk, it does make it much less risky. 

    I am sorry you are facing the unknown and I hope you are able to see the genetic counselor soon. The waiting is so difficult. I would ask if your doctor would give you the blood test now, if he was offering it before maybe that would be an option now. 
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  • i had the first two markers, however, her nt scan was perfect and i'm currently sitting here with my perfectly healthy 16 week old, so don't stress too much! they usually resolve themselves :) 
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  • Thank you! I should be hearing back from the genetics clinic between today and tomorrow to set up an appointment. Hopefully they will do bloodwork. 
  • Thank you! I spoke with my doctor again today and he said the dilated bowel isn't really a marker...just more of a precautionary thing because of the other 2 markers. Please pray my outcome is the same as yours! 
  • fx it's fine. my mfm told me that the NT scan is the big deal.'if the NT has concerns then the soft markers mean a lot more. 
  • Unfortunately I did not have the NT scan done. We opted out of all first trimester screenings due to our low risk and the amount of false positives. 
  • Not sure if this helps but we had an echogenic cardiac focus and went for a level 2 ultrasound. It was still there so we opted to do the harmony test. Results came back as very low risk and indeed he was born without Down syndrome. I do understand how scary and nerve wracking it can be. I hope you get good results! Even with two markers the odds are highly in your favour! 

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  • So my story won't be your favourite because my DS does have a syndrome (not DS). Our first marker was bilateral hydronephrosis (dilated kidneys). They later found other things as well (including a heart defect that was missed on multiple ultrasounds) but since only a handful of syndromes are tested for during an amnio, we didn't get an official diagnosis until he was 10 months old.

    I just want you to know that many, many syndromes are not inherited genetically, my son's is a spontaneous mutation. He will have a 50/50 chance of passing it on but my SO and I do not have the mutation. Also, many times parents aren't aware they either have or carry a condition until their child is diagnosed. DS is not found to be genetic at all so far so having any genetic history wouldn't help.

    Prayers your baby is healthy, I'd never wish for a child to be unhealthy or have to struggle more in life, but if for some reason it isn't I pray you find comfort in whatever you decide.
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