High-Risk Pregnancy

Indeterminate micro deletion nipt

Just got my NIPT results Back. Chromosome 15 is showing indeterminate micro deletion. We have an appointment with the genetic counselor but I was hoping somebody could share more info. They made it seem that it could just be an issue with the blood test but reading into it. I also know there could be larger problems. We will likely have to go for an amnio, but that won’t be for another three weeks. Any stories of people who had indeterminate micro deletions on there and It turned out to be fine thank you.

Re: Indeterminate micro deletion nipt

  • Just got the same results. Meeting with a genetic counselor this week but praying everything is fine. Hope everything turned out okay for you! 
  • edited February 7
    Hi there, I'm so sorry you're going through this. 

    Chromosome 15 issues on an NIPT is often very (less than 1%) true positives. It's only a flag for risk, but the raised risk is from something like 0.05% regularly to 0.35% with the NIPT findings. Is it 7 times higher? Yes. Is it still so deeply unlikely? Yes. It is also very likely that the issue is confined to the placenta and not present in the baby - so an amnio is the best course of action most definitely but if there have been no other markers or issues on ultrasound, your chances of there being a real issue are still quite, quite low. To the very best of your ability, remain calm. NIPT testing is not FDA approved, and for anything except trisomy 21, it's actual predictive capabilities are very shakey. I of course can't guarantee that everything is okay and I am not trying to provide you false hope, however I don't want you to be distraught for the next 3 weeks thinking this is an inevitable true positive. This is a shakey screening result that can only say "Maybe more testing should be done for this" and if the amnio comes back negative, it is still possible the abnormality is in the placenta but other than the possibility for rare placental insufficiency things often can be considered back to 'normal' risk pregnancy. I hope your amnio returns all clear. In the mean time, I recommend trying the anxiety management tool below. Wishing you the best.

    Instituting the Worry Window - an anxiety management tool

    Pick a time everyday (it can change as needed!) that you designate your worry window. A 10-15 minute long section of time, ideally once a day, but if you need two in the beginning that's alright. You will open a worry window and you will allow yourself to feel what you are worrying about. You can cry, breakdown, doom scroll, research or play out scenarios for those 10-15 minutes and then you close the worry window with an affirmation that you are doing everything you can to get answers, the tests or results will come in soon, and that you can do this. 

    When the anxiety starts to creep in or a question comes up, you take 3 deep slow breaths, remind yourself of your affirmations, write down any questions and put them and the anxiety away until your next worry window. 

    To the very best of your ability, you continue the rest of your day and nights as normal as possible. Controlled worry can keep you from spiraling out, keep you from going down a Google rabbit hole, and also keep you connected with the rest of your life that is still happening around you. 

    Try to institute a worry window process for yourself, adapt as needed and see if it can help you keep putting one foot in front of the other until you have the answers you need, and then keep using it to help you make the decisions that come from those answers. 
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