March 2015 Moms

Any experience?

As always..never a dull moment. These past 2-3 days have been a whirlwind of emotion.
I went to the high risk (perinatal) as per my OB. At 12 weeks I went to my OB for the NT scan and bloodwork (harmony test). The ultrasound was inconclusive because no one informed me to have a full bladder. So my OB said not to worry, to make an appointment with the MFM center and have them do the NT and their own evaluation.
They did a repeat of the NT scan at the MFM I was 13 weeks 5 days. The NT measurement came to 1.95mm, then they did a screen (the blood on the paper) for trisomy 18, 13 and Down syndrome. They were supposed to have the harmony results that day but I guess they hadn't come in yet. They said the NT measurement was normal and heart rate was normal.
We also saw a genetic counselor because my dad has a cousin and a second cousin (the first cousins nephew) who had/have Down syndrome. So they sent me for chromosome analysis also.
So yesterday the genetic counselor calls me to let me know the screen was in. She said my risk for trisomy 18 & 13 was low at 1 in 1,000.
But then she said the risk for Down syndrome was intermediate at 1 in 308... Which is high for my age (23) (these results do not factor in family history, solely based on the blood work). And then she also said that my "Papp A" hormone level was pretty low, 5th percentile (whatever that means) and has something to do with the placenta. I was so upset, I could hardly comprehend anything. Then I realized I still never heard about my harmony results, she didn't even know I had it done, but she saw those results were in, and from those results it was negative for all 3 of the trisomies. so now I'm so confused.
So my question is can anyone shed any light? I'm going to call the genetic counselor back tomorrow to clarify things, but in the mean time I was wondering if anyone has any advice, experience, or some kind of medical training that could explain anything? like if Down syndrome is negative what's with the low "Papp A"?

and also found out the little one, is a little dude, which is so crazy to know! I can't believe they are able to tell it's a boy by some blood work. It's so exciting, but hard to enjoy when I'm so worried about his health.
:(:(

Please and thank you. and hope everyone else is having a better week, prayers to those who aren't. ((Hugs))

M & N: 05.27.2012 <3 
Natural M/C: 08.27.13 at 8 weeks
BFP: 07.02.14 ! 
Baby #1 EDD: 03.11.15 

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Re: Any experience?

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  • Thank you ladies, prayers are definitely hugely appreciated!

    And @ToasterCat‌ you're absolutely right, I know, it's just easier said than done. But I'll be keeping that in mind, thank you!

    M & N: 05.27.2012 <3 
    Natural M/C: 08.27.13 at 8 weeks
    BFP: 07.02.14 ! 
    Baby #1 EDD: 03.11.15 

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  • So sorry to hear the uncertainty that you're having to deal with. Thoughts and prayers! And congrats on your baby boy :)
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  • I'm so sorry you're having so much conflicting info! From what I've been told, the harmony results should be the most accurate, since it is a newer test, but I'm not 100%. I wish you the best in getting the answers from the specialist as soon as you can!
     
    Surprise! Baby #2 EDD 7/28/17
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  • I am sorry that you're having to sort through all this. I hope the genetic counselor gives you helpful information. In the mean time, take care of yourself and your baby boy!
  • My OB said sometimes a low PAPP-A shows in the bloodwork while everything else is normal, and at that point the baby is genetically fine. What it does mean is for some unexplained reason those babies tend to be smaller but otherwise healthy. He said if that were the case, that they would just monitor with a couple of extra ultrasounds to monitor the size of the baby. Hope that's helpful.
  • Thank you everyone for all the well wishes!
    And @ac123185‌ that is very helpful, and gives me some hope. I've been trying not to google too much, I'm afraid of what I'll find. But if all it means is extra monitoring, I will be so grateful and relieved. Thank you

    M & N: 05.27.2012 <3 
    Natural M/C: 08.27.13 at 8 weeks
    BFP: 07.02.14 ! 
    Baby #1 EDD: 03.11.15 

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  • I don't know if it's true 100% of the time but I've heard from a lot of parents about how they've received "false positives" from the NT Scan & the child ended up being born with no Chromosomal abnormalities. Sorry if I worded that strange, just hate it when people post that the child ended up being 'normal' since there's nothing abnormal about Downs syndrome. 


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  • Congrats on the baby boy! I don't have any experience in this but offer y O u my T&P. I opted not to do NT scan, etc. Because i know i would stress too much. There are false positives so hopefully that is what is going on in your situation.
  • I font have any insight on the situation, but lots of T&Ps that tomorrow's appointment brings good news! Please keep us updated.
  • Thank you everyone, I didn't have an appointment today, I'm sorry if my wording confused anyone. I was only going to put a call in to the genetic counselor for some explanation, or advice. However, I didn't get a call back yet :-S
    Hoping that by sometime tomorrow I get a call. I'm just nervous and curious, and wondering if maybe we could do another blood test...just to be sure.
    And @CiaoBella081311‌ I now completely understand why some people opt not to have the testing done. I mean I'm the type of person who likes scientific fact and blood results, but this is definitely stressing me out. I can absolutely see why someone would opt out of testing. It really is stressful. Good luck to you!

    M & N: 05.27.2012 <3 
    Natural M/C: 08.27.13 at 8 weeks
    BFP: 07.02.14 ! 
    Baby #1 EDD: 03.11.15 

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