April 2020 Moms
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NIPT,AMNIO &CVS Experiences and questions

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Re: NIPT,AMNIO &CVS Experiences and questions

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    sanpelligrinosanpelligrino member
    edited September 2019
    Quick question, ladies. My Ob told me to do my NIPT test after 11 weeks and the prenatal clerk who gave me my harmony box today told me they recommend testing after 12 weeks, but they said it's up to us to decide when we want to test. They told us early testing might give inconclusive results.

    Those who have experience with NIPT, what week did you test, and did you have any issues with it being early and not seeing enough fetal DNA?
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    @sanpelligrino my OB said between 9-11 weeks with 10 being ideal.  I did my blood work today, at what I thought was 10 weeks, but had an ultrasound first to make sure pregnancy was still viable before we spent the $800, and I was measuring a week ahead (even though I had two previous dating scams). The lab didn’t comment, so hopefully it’s ok. 
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    Just got the call, today, that my 11 week NIPT blood draw (drawn on 9/12) gave insufficient fetal fraction to run the test. So, I picked up a new kit, after work today, and had a second blood draw at 11+5. 🤞 for more info, soon!
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    @sanpelligrino my OB refers to the MFM who does it at exactly 12 weeks.  I go for the NT scan and they do the blood draw right there after the scan.  I don't have my NT/NIPT scheduled yet since they might push my due date back a week, they're that rigid with the timing.  
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    graces41graces41 member
    edited September 2019
    I am 36 so opted to get the NIPT test done. I just went to my OB lab office (no appt necessary) and they took my blood and sent in the test (Natera Panorama). Said it would take up to 10 days and they would call. Was such a stressful wait. I went in on Tuesday Sept 3, @ 9weeks+4days. I got a text from Natera (after registering in their website) on Thurs Sept 5 that they had received my sample. I called my OB on Friday but no results yet. I called Monday afternoon and they had received my results and told me over the phone. Came back low risk and I’m having a boy! Received an email from Natera on Sept 11 saying I could view my results in their website.
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    I go in tomorrow at 10+4. I really hope it's not too soon and they are able to get enough fetal fraction for results.
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    sanpelligrinosanpelligrino member
    edited September 2019
    I plan to go in next week at approx 11w3d to play it safe.

    Congrats @graces41 on the low risk results.
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    babybisonbabybison member
    edited September 2019
    To get pricing did you guys call each company individually? Or does your OB have a set company/price?

    ETA: price for NIPT?
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    ohemgee-2ohemgee-2 member
    edited September 2019
    I'm not sure if it's different because i'm in Canada, but my OB didn't give me an option.  There are two labs that do the testing (Dynacare which does Harmony & Lifelabs that does Panorama), and he only works with the one that he thinks is better.  There were 3 levels of the NIPT testing, each with a different price, and we went with the more detailed one, which is more expensive.

    Edit: @babybison
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    We didn't have a choice.  The MFM we get referred to uses Counsyl.  
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    sanpelligrinosanpelligrino member
    edited October 2019
    @babybison I didn't have a choice either. During my last OB appt they pushed the sequential screening 
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    So I just had the NT ultrasound and it was abnormal at 4.5mm. I'm freaking out and they are sending me to the maternal fetal specialist to have it repeated and do the CVS if we choose. I did the Harmony and it was very low risk for all the trisomies so I just dont know what to think. I've had 2 kids before and both of their NT were normal so I was not expecting this, although I know every baby is different. It is a boy and so the doctor said the NT is usually high due to Downs syndrome or Turner syndrome, but they have ruled them out with the harmony and Turner's only affects females. Sounds like just about anything else could be wrong. I wonder if there is any chance the baby is normal with this reading, and the OB couldn't really say. For now, I'm a nervous wreck.
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    @mwill291 I'm so sorry you're going through this 
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    @mwill291 I’m sorry you’re going through this. Talk to your MFM and see a genetic counselor if you can. There are other things that can cause the abnormal result, such as heart conditions, that the genetic counselor can help you understand. I will also note that the NIPT gives you a risk-based result. Only an amino or a CVS can completely rule out Downs. There are also stories out there of women who had abnormal results and still had a perfectly healthy baby. I had abnormal NT results the first time (but based on the blood sample, not the measurement) and my son doesn’t have any of the trisomies. 

    ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

    Me 34 DH 34 
    PCOS

    DS1 born September 2017
    Baby number 2 due 4/11/20
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    @mwill291 I’m sorry you’re going through this. The NT ultrasound is just a screening and not a diagnosis. Same with the blood tests. So everything could still be perfectly fine. Hopefully the follow up with specialist will go well. 

    Diagnosed PCOS 2013
    7th Round of Fertility treatment (Femara + Ovidrel + IUI) 12/14 = BFP. DS born Sept.15 
    Natural BFP Feb 2017. DD born Oct. 2017
    Natural BFP Aug. 2019, EDD April 2020

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    sanpelligrinosanpelligrino member
    edited September 2019
    @mwill291 - I'm sorry for the stressful time. I do hope you get better answers from the MFM and genetic counselor. There are several times a higher NT measurement doesn't correlate to anything being wrong. I hope you get reassuring results from your CVS. 
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    Thank you all so much for the reassuring words. I'm super worried but just keep holding on to some hope that everything turns out okay. We did end up going to see MFM today and had the CVS done so we are waiting for results, which they said will take 3 days for a prelim result and 10 days for the full karyotype. We have scheduled the fetal echocardiogram for 1 month from now so after those two tests, we should have as much info as possible. Thanks again for the support and keep the prayers coming!
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    @mwill291 I understand how scary it all is. Genetic testing of any kind, but know some results can sound far scarier than they are.
    I am 34 and was just diagnosed with a condition 2weeks ago!! I'm married, have a kid, great job, went to college...no clue until recently. 
    So while I am fingers crossed for great results I am also here if you need anything. 
    My CVS for this baby isn't til the 8th and I'm terrified!! 
    TW: 
    1 infant loss
    8/17: Our daughter was born
    8/18: Our daughter kicked open heart surgery ass
    2/19: We lost our son to Prader-Willi/Paradoxical Vocal Cord/ Noonans at 6wks old 
    4/26/2020: EDD for baby #3!!!
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    @mwill291 I'm glad that the preliminary CVS results were normal. Praying for good final results as well!
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    Thinking of you @mwill291. Hopefully all this anxiety is for nothing.  
    I did my NIPT blood work last week (waiting for results), and have my NT scan tomorrow. I’m so nervous. This pregnancy business is so stressful. 
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    @ohemgee-2 how did the NT scan go? I'm a little anxious about mine, it's this Tuesday. I'm also waiting on my NIPT bw.
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    @sanpelligrino Ultrasound was good. I asked the tech for my NT measurement, but she just said my number was fine, and not to worry. She said “perfect” a couple times while doing the ultrasound, so I’m taking it as a good sign.  It’s been 8 days since my NIPT. My OB runs on a “no news is good news” policy, but I’m still going to call I think - I’m just nervous to actually do it! 
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    Glad to hear the NT went well, the phrase "perfect" would sound great to me too :wink: Did you check off the box to find out the sex too?
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    @sanpelligrino my Dr did. We don’t want to know the sex so we won’t get a copy of the report. He wanted to know because he said there are certain things that they test for that could be an issue for one sex and not the other. It is a weird feeling knowing I could know this week, but we are firmly team green again. 

    Good luck with your NT scan!  Update here when you get your NIPT results too (this goes for everyone who’s doing the test) 😊
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    @kerriann0o114 I would have already opened that envelope if I was you. I have no self control.

    ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

    Me 34 DH 34 
    PCOS

    DS1 born September 2017
    Baby number 2 due 4/11/20
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    @mwill291 that is great! So far we just have our FISH. Another week+ til we get our results on the specific condition we have fears around called Noonans Syndrome, then another few weeks til we get the Micro-array and another genetic specific test. Fingers crossed for you, because I am in the same nervous boat. But with an extensive history in the genetic world. 
    TW: 
    1 infant loss
    8/17: Our daughter was born
    8/18: Our daughter kicked open heart surgery ass
    2/19: We lost our son to Prader-Willi/Paradoxical Vocal Cord/ Noonans at 6wks old 
    4/26/2020: EDD for baby #3!!!
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    @mwill291 Great news so far. Hope it continues. 

    @smallbutmighty77 Hoping so hard for great results for you. 

    ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

    Me 34 DH 34 
    PCOS

    DS1 born September 2017
    Baby number 2 due 4/11/20
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    @mwill291 and @smallbutmighty77 Thinking of you and praying for a great result.
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    @ohemgee-2 What province? Going in for my NT scan and NIPT tomorrow and it's fully covered by OHIP.
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    We had our NIPT done a little over 2 weeks ago and everything came back normal! However, the doctors office refuses to let me know the gender. I know they have to know the gender because they test for Turner’s syndrome which is in females. When I go for my appointment on Tuesday I’m going to ask for a copy of the bloodwork to read. 
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