June 2017 Moms

NIPT (Noninvasive Prenatal Testing)

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Re: NIPT (Noninvasive Prenatal Testing)

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  • I've logged off(general social media) for a bit, but I did get my NIPT done, it was Natera's PANORAMA.  Completely covered by insurance,  for maternal age.    It's been super good  for my peace of mind, but that $795-995 sticker price is a bit much.  Good luck to all
    J+J 05.12  .  N 04.15  .   No.2 due 06.17
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  • Got my MaterniT21 genome results back yesterday - low risk across the board (HUGE relief given my first screen/NT bloodwork was positive), and it's a boy!
    Me 37, DH 40
    BFP #1 6/13 DD 3/14
    Mirena 10/14-5/16
    BFP #2 9/2/16, CP confirmed 9/8/16
    BFP #3 10/10/16 EDD 6/22/17
  • Assiram42 said:
    I had my blood draw today and expected to b scheduled for my nt scan, but my doc said that this test takes the place of the nt scan and quad screen. Less false positives and higher accuracy rate. Just a heads up. Some docs might still do both.
    Sorry for the dumb question nt scan and the quad screen is that when you get your ultrasound done at 18 or so weeks?
  • @Momofboys NT scan is usually around 12w and the anatomy scan is usually between 18 - 20w.

    NT scan is looking at the nuchal fold, typically wanting a measurement of less than 3mm.  If it is 3mm or greater, it can be indicative of down syndrome, spina bifida, and other physical defects (e.g., heart).  But it isn't diagnostic, just a screening to see if it is larger and that could mean that there is something they'll be watching for/looking at later.  It also isn't 100% in regards to there being no issue either...

    My OB still did the NT scan for the physical indications that are associated with a nuchal fold measurement 3mm or greater even through I did NIPT and was low risk for everything tested.
  • Momofboys said:
    Assiram42 said:
    I had my blood draw today and expected to b scheduled for my nt scan, but my doc said that this test takes the place of the nt scan and quad screen. Less false positives and higher accuracy rate. Just a heads up. Some docs might still do both.
    Sorry for the dumb question nt scan and the quad screen is that when you get your ultrasound done at 18 or so weeks?
    NT scan is between ~11-14 weeks and takes a measurement of the neck (nuchal translucency measurement) - it gets combined with bloodwork (first screen, I believe) to give an early look at likelihood of chromosomal abnormalities like Down's Syndrome. The quad screen adds in a second set of bloodwork to further refine the odds given from the first screen. A lot of doctors won't do the NT scan / bloodwork if you're doing NIPT since it's more accurate, but mine likes to do both since the hormone levels measured in the first screen are predictive of other things (e.g., possible growth issues later on).

    An ultrasound at 18 weeks is more likely to be an overall anatomy scan - my doc does an early one at 14-16, and then another at 20, but everyone does things slightly differently.

    Hope that helps!
    Me 37, DH 40
    BFP #1 6/13 DD 3/14
    Mirena 10/14-5/16
    BFP #2 9/2/16, CP confirmed 9/8/16
    BFP #3 10/10/16 EDD 6/22/17
  • @Momofboys Looks like @michaela0704 and I both answered simultaneously - giving you two accurate and yet entirely different answers. Gotta love how different people's brains work in such different ways!

    Me 37, DH 40
    BFP #1 6/13 DD 3/14
    Mirena 10/14-5/16
    BFP #2 9/2/16, CP confirmed 9/8/16
    BFP #3 10/10/16 EDD 6/22/17
  • @Momofboys NT scan is usually around 12w and the anatomy scan is usually between 18 - 20w.

    NT scan is looking at the nuchal fold, typically wanting a measurement of less than 3mm.  If it is 3mm or greater, it can be indicative of down syndrome, spina bifida, and other physical defects (e.g., heart).  But it isn't diagnostic, just a screening to see if it is larger and that could mean that there is something they'll be watching for/looking at later.  It also isn't 100% in regards to there being no issue either...

    My OB still did the NT scan for the physical indications that are associated with a nuchal fold measurement 3mm or greater even through I did NIPT and was low risk for everything tested.


    This was my experience exactly.  I had NIPT at 10 weeks and then the NT scan and first part of the quad screen at 12 weeks, and will get more blood drawn for the remainder of the quad screen at 16 weeks (I think they can't scan for spina bifida until the second tri so that's what the extra bloodwork is for).  My risk of Down Syndrome was actually reported as different between the two - NT/quad said <1/8700 and NIPT said <1/10000.  I looked back at my NT scan from DD which had almost identical numbers and the Down Syndrome risk was <1/10000 that time - I think the difference is simply because I'm two years older now so the risk is naturally higher (i'll be two days shy of 35 when I'm due this time, but for some reason this testing said that my age at EDD was 35.  No idea on that one, but I hope they told the NIPT people that so that my insurance will maybe cover it haha).  My age is one of the reasons we decided to do NIPT this time around, and I consider those results more accurate, so I'm not concerned at all about the NT scan results for the conditions that the NIPT also screened for.

     

    NIPT is great for screening genetic conditions, but there are still physical conditions that are independent of genetics that  can be caught as early as the NT scan, so that's another reason my doctor still does it.  All of these conditions would also be seen at the Anatomy Scan, but if they can catch something earlier, they want to.  My office does Anatomy Scans at 18 weeks.

  • @delujm0 Your risk will indeed be different given the NT results are based off of a statistical model combining your NT measurement, age, and the hormone levels in your blood while NIPT is based off the actual fetal DNA. (For me, the spread was enormous - 1/24 for Down's by NT/bloodwork, but <1/10,000 by NIPT. I did a LOT of reading on this topic while waiting for my NIPT results!)
    Me 37, DH 40
    BFP #1 6/13 DD 3/14
    Mirena 10/14-5/16
    BFP #2 9/2/16, CP confirmed 9/8/16
    BFP #3 10/10/16 EDD 6/22/17
  • Is anyone doing MASFP blood work at 16 weeks?  My doc schedule this and I haven't seen anyone else talking about it and now I'm wondering if she saw something on the last ultrasound.
  • @lmudra I just googled this testing and yes, I'm doing it and have done it with my other two, my doctor just didn't call it that. It's a screening test for spina bifida (and maybe some other things) and often is a part of the quad screen that you have probably seen people talking about.
  • @lmudra it has been mentioned, but i will have to re-address with the OB. We've had a busy month with the high risk scares and i honestly can't keep anything straight in my head.  I'm going in for 16 week glucose test so I"ll aska bout it then.
  • also, for anybody wondering about turnaround time- i had my blood draw for mat21 on 12/07 in chicago, sequenom told me they got the sample on 12/09. my doctor called after-hours on 12/14 with my results. faster than i expected!
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  • @lmudra, I'll be having it around 16w. 
    DD1 4.14.10
    DD2 8.22.13
    MMC 1.4.17 at 16w
    Expecting #3, EDD 1.29.18

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  • Whew!  Glad it's just part of the whole package (I'm AMA).  I just didn't remember her mentioning it before and she brought it up right after our NT scan so that's why got my worried.  Thanks ladies!
  • Ok so today was filled with mixed emotions.  On the good side the ultrasound tech and OB were both completely stunned by what my baby girls ultrasound looked like.  They were expecting a malformed placenta and baby with lots of issues.  However my placenta is completely healthy from what they can see and baby girl is not showing any visual signs of Turners.  I guess by this point her heart should have major defects or be failing.   Her nuchal fold was 2.5 which Turners babies at this stage are 6 or over.  So she looks really good with regard to her possible Turners diagnosis.  

    Now the not so good.   She has a large cyst on the back of her brain.  They're calling it a Dandy Walker cyst or variant.   It is not something that will just go away.  Their concern now is if it will continue to grow or stay as it is.  I have to go back in January for a fetal MRI to assess the cyst and see if it's growing and just how it's impacting her brain.  This cyst like anything else can cause a whole range of issues from seizures to learning disabilities.  I was also told I may be referred out to Seattle Children's for further diagnostics on her since they are the premier children's hospital in my area.  

    I just feel like my poor little girl can't catch a break.  Otherwise she's measuring ahead 4 days and has a heartbeat of 150.  

    The amnio wasnt too bad.  I cried a lot.  I think more so from the stress of all of this than pain.  
  • Oh man. You'll continued to be in Munich prayers, @Wearmi1
    DD1 4.14.10
    DD2 8.22.13
    MMC 1.4.17 at 16w
    Expecting #3, EDD 1.29.18

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  • Ugh, I'm sorry you didn't get any relief from bad news, @Wearmi1! Thinking of you and your girl!
  • @Wearmi1 I'm sorry to hear about the cyst. I'll be praying for the very best possible outcome for your family and your little girl. Did they say about how long the amnio results would take? 
  • @Wearmi1 Thinking of you. 

  • I'm praying for you and your LO @Wearmi1
  • You will continue to be in my thoughts @Wearmi1
  • Thinking about you and your sweet little one @Wearmi1
  • I'm sorry to hear about the news of the cyst... praying that the bad news ends and your little girl gets the very best outcome possible! @Wearmi1
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  • Thanks ladies for your thoughts.  Any of you in the medical field and encountered a child with a cyst like this?  

    Ill get the FISH results in 24-36 hours and the other results in about 10 days.  
  • I'm sorry to hear about the cyst @Wearmi1
  • @Wearmi1 Was so hoping for only good news for you here - will continue to have you and your LO in my thoughts.
    Me 37, DH 40
    BFP #1 6/13 DD 3/14
    Mirena 10/14-5/16
    BFP #2 9/2/16, CP confirmed 9/8/16
    BFP #3 10/10/16 EDD 6/22/17
  • I'm so sorry you didn't get a simple and happy answer today, @Wearmi1. I will keep praying that your little girl comes through strong and healthy. I'm sure that she can feel that she is so loved and in the best care with you as her mama. 
  • @Wearmi1 Continued prayers for you and your baby girl! 
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  • @Wearmi1 I'm praying for you and sweet baby girl. Thanks for the update. 
    Me: 29
    DH: 29
    DS: 18 months 4/2/2015
    Baby #2 EDD: 6/1/2017 
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  • @Wearmi1 I'm sorry this is going on. You will
    continue to be in my thoughts and prayers. 
  • @Wearmi1 praying for you and your precious baby girl! Wishing you only good news going forward.
  • @Wearmi1 prayers for you and your little one!
  • @Wearmi1 I'm so sorry to hear that you did not get good news today. You will continue to be in my thoughts and prayers.


    Me: 36;  DH: 38
    DD: 7; DS1: 4; DS2 due 6-21-17!
    **TW**
    MMC & D&C Aug 2016
  • @Wearmi1 Thinking of you xoxo
  • @Wearmi1 I am so sorry. My SIL is a NICU nurse. She just said the that night that the treatments for little babies is so much more advanced than even 10 years ago. Hope for better news for you and your precious girl going forward.
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