July 2018 Moms

Genetic Testing Results Thread

135

Re: Genetic Testing Results Thread

  • @morganelizabeth123 I'm so sorry to hear that I hope that you take some time to process the news and take care of yourself.
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  • @morganelizabeth123 so sorry to hear that. Thinking of you!
  • @morganelizabeth123 So sorry the news wasn't good. Praying for you and your family moving forward.
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  • @morganelizabeth123 I am so sorry that you received that news. I'll keep you and your family in my thoughts. 
  • @morganelizabeth123 I am really sorry that you didn’t get the news you were hoping for. I hope you guys find the answers and support you need soon. 
    Meagan
    <3 Married 6.12.10 <3
    DS 11.8.12
     Baby GIRL! due 7.4.18
  • @morganelizabeth123 I'm so sorry to hear that.  I have gotten unfortunate amnio results and know how awful that is.  If you ever want to talk feel free to PM me anytime.
    Married 9/19/09
    Me (32) Dx PCOS, DH (32) SA = Normal/mild morph issues
    TTC#5 July 2017 - 3rd cycle TTC = BFP on 11/12/17 at 9dpo Beta #1 = 96 at 13dpo - Beta #2 = 207 at 15dpo
    TTC#1  starting Nov. 2009
    3 rounds of Clomid + TI and 3 rounds of 7.5 mg Femara + IUI before our BFP on 11/8/10 at 12dpiui
    TTC #2 3rd cycle of Femara 7.5mg+Ovidrel+TI = 4 follies = BFP on 10/12/12 
    TTC#3 July 2014 - Metformin +TI = BFP at 9dpo - Twins, one baby lost at 5.5 weeks 
    Macy Annabelle born at 37w4d on 4/29/15.  Diagnosed with Cri du Chat and passed away on 6/6/15.  Forever in our hearts.
    TTC#4 3rd cycle of Metformin + Femara 7.5mg+Ovidrel+TI = 3 follies = BFP on 12/24/16
    BabyFruit Ticker
  • @morganelizabeth123 I am so sorry you are going through this. You and your family are in my thoughts and prayers.  
  • @morganelizabeth123 Thinking of you and your family!  Hugs on hugs!
  • @morganelizabeth123 I’m so sorry the news wasn’t so good. I also really hope anyone who might experience this will find this thread and then the support they need- it’s so valuable when you feel alone in something. Also, I personally like the anonymity incase it’s something you’re not willing to share yet with those you know. 
  • I'm so sorry you got bad news @morganelizabeth123. Thinking of you and sending hugs if you want them  <3
    run along Pond...2015/12/10

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  • @babybakie that is such a positive attitude to take! Good luck with your amnio! When do they do those?
  • @morganelizabeth123 I'm so sorry the results were not good. I hope you get all the support you need. There are some amazing resources out there and I hope that wherever you are, you can find access to them.  <3
  • @SmashJam thank you. They do the amnio after 16wks and before 20wks so thats 2 and a half more weeks for me. Then the results take almost 2 weeks, so I guess in about a month I will know what we are dealing with. Hopefully the NIPT will give us reassuring results but we personally plan to choose the amnio either way. I feel like I shouldn't worry but it seems like theres actually TMI through the Doctors which puts a negative spin on the risks. AMA is higher risk but odds of having a healthy baby is still most likely. I just wanted to remind any other AMA who may feel scared by all these statistics. 
  • @babybakie I am so sorry you are in this situation and especially for all the waiting. That is a really hard situation to be in.  I hope your wait to results goes quick, and you have a healthy baby!
    Meagan
    <3 Married 6.12.10 <3
    DS 11.8.12
     Baby GIRL! due 7.4.18
  • @babybakie I'm so sorry the doctor put it that way, it seems super insensitive. I love how positive you are and you are right, chances are your baby is going to be just fine. 
  • @babybakie I am praying all results are good, and yes, your doctor was a touch insensitive. 
    I totally agree you have more chances of a healthy baby and I'm so glad you're staying positive. I think since you already have reassuring news from the NT and bloodwork the wait may be a little bit easier.

    In other news, I'm still waiting in the results of the blood draw they did the day of the NT! It's been over 3 weeks, come on California!
  • @babybakie Sending you tons of hugs! 

    @kissableviv I was told because we go through the CA prenatal screening, they won't tell us the full results until the 2nd trimester screening is completed. They want to compare all the data. This is per Kaiser though...

    However, the OB did give me "preliminary" results for the 1st trimester screening and NT scan. Baby looks great. NT scan came back negative. Chances are extremely low for abnormalities. (Based on what they told me above then this, it kind of feels like a contradiction...). 

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  • Final NT results ar good, low risk for abnormalities. 

    I hope things look look good on your amnio @babybakie, it’s so scary your doc phrased things that way!
    run along Pond...2015/12/10

    Lilypie Premature Baby tickers
    Lilypie First Birthday tickers
  • @zombiehoohaa that actually makes sense! I will ask my doctor. I was supposed to got this week for the second tri screening draw but had NO TIME so I will go next week. It's between 15-20 weeks so I still have time.
  • babybakie said:
    My NT blood results came back normal which made me feel very positive. My risk before the test was 1/35 as a 43 yo. After the NT results, now my risk is 1/144 which is considered the risk of a 38yo. I thought wow! I turned back my clock 5 years!

    I said to my OB today, it is our plan to have an amnio even though the NT blood work had good results. My heart dropped when he said, the results were NOT good at all. I said but the genetic counselor said everything came back normal!! He looked at my chart and apologized and said he misinterpreted the results of the test. The bottom line is, 1/144 is not considered good but my age will always be factored in and it's something I can't change so even with normal blood results,  I can never be considered low risk for these things.

    I was feeling positive,  but after today's visit I'm back to worrying a little. I can't wait until I finally know for sure. 

    To other AMA moms here, and I think I'm still  the most AMA in our bmb,  I find the numbers they throw at us a bit scary BUT Fyi 1/144 translates to 99.3% chance that all will be fine. I'm trying to focus on the odds being in my favor. Even 1/35 is still over 97% in favor of all working out ok!!

    Good luck to all those still awaiting results.❤ 


    Thanks so much for sharing this. I’m still trying to wrap my head around a 99.3% chance of things being fine, as being a bad thing per your doctor. I would interpret that as a good, too! I’m 38 and AMA and I’m currently awaiting the results of my Counsyl test. I have no idea what numbers are considered good or bad. What do they consider good or low risk? I know you said you had decided to get the amnio regardless but did your doctor also advise that you should? I haven’t really thought about it but now I’m thinking I may need to depending on my results. 

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  • @babybakie I'm sorry that your Dr handled your results in that way, but your outlook is wonderful. I wish you more good news moving forward. 

    I didn't get the chance to get on here, but our NIPT results came in last week and all results were normal! I will still need to have additional scans in the third tri just to keep a close eye on Tater Tot's growth due to the low PAPP-A levels, but our DS risk is back down into the normal range for my age. 
    Me: 32 DH:33
    Married 9/2015
    TTC #1 6/2016
    BFP: 4/21/2017 - CP
    Dx Unexplained IF 6/2017
    Clomid + Ovidrel + IUI 7/2017 - Cancelled (overstimulated)
    Letrozole + Ovidrel + IUI #1 - BFN
    Letrozole + Ovidrel + IUI #2 -BFN
    Letrozole + Ovidrel + IUI#3 - BFP! EDD July 15 2018
    Baby Girl H - July 22 2018


  • Looks like I need to post here. Had my NT scan on 1/18. The ultrasound results were great. They said baby was perfect and that there was nothing concerning. I got a call from mfm today saying that my blood screening came back positive. She didnt tell me the details except that my age, 32 almost 33, and low hcg levels are part of the reason for the positive test.  I go in tomorrow to talk with the specialist and see what next test we want to do. Im trying not to stress but this pregnancy has been such a roller coaster. Im hoping that everything is fine since baby looked great on the ultrasound. I just dont know what to think at this point. 
    Married since 5/23/09
    Stepdaughter-2/17/02
    DS #1 born 1/25/10
    DS #2 born 4/25/12
    BFP 2/2016 M/C 3/2016 @ 5 weeks
    Trying for #4 since 11/2015
  • @busymommy23 I think it’s reassuring that the ultrasound looked great!  I don’t even have the blood work portion of the NT scan done for this exact reason.  My age alone (33) makes my risk higher than I’d like to see, which just causes me anxiety.  (That and we will probably be doing an amino later in the pregnancy for peace of mind).  I’ll be thinking of you and hope things go well tomorrow and that you feel good about testing moving forward.  I can’t remember, did you do NIPT blood work?
    Married 9/19/09
    Me (32) Dx PCOS, DH (32) SA = Normal/mild morph issues
    TTC#5 July 2017 - 3rd cycle TTC = BFP on 11/12/17 at 9dpo Beta #1 = 96 at 13dpo - Beta #2 = 207 at 15dpo
    TTC#1  starting Nov. 2009
    3 rounds of Clomid + TI and 3 rounds of 7.5 mg Femara + IUI before our BFP on 11/8/10 at 12dpiui
    TTC #2 3rd cycle of Femara 7.5mg+Ovidrel+TI = 4 follies = BFP on 10/12/12 
    TTC#3 July 2014 - Metformin +TI = BFP at 9dpo - Twins, one baby lost at 5.5 weeks 
    Macy Annabelle born at 37w4d on 4/29/15.  Diagnosed with Cri du Chat and passed away on 6/6/15.  Forever in our hearts.
    TTC#4 3rd cycle of Metformin + Femara 7.5mg+Ovidrel+TI = 3 follies = BFP on 12/24/16
    BabyFruit Ticker
  • @Sarafuss I didnt have it done yet. Anthem will not cover unless there is an issue or concern. So that is one of the options we can do tomorrow. What we will probably decide is to see what the numbers are and then procede with the nipt. If those come back concerning, then i will go with the amnio. 
    Married since 5/23/09
    Stepdaughter-2/17/02
    DS #1 born 1/25/10
    DS #2 born 4/25/12
    BFP 2/2016 M/C 3/2016 @ 5 weeks
    Trying for #4 since 11/2015
  • @busymommy23 I think my genetic counselor or OB told me the NT blood work is only like 70% accurate... so you could be in that 30% inaccurate portion and have gotten a false positive. Also, your insurance should cover the NIPT since you had an abnormal NT bloodwork result. 
  • @busymommy23 We had a very similar situation, all looked good on U/S but the bloodwork set off a positive. At the time the Dr had told us that this is incredibly common, and the NIPT would help to alleviate any worry without being invasive. And like @moguippy said, since you did have an abnormal result from your NT bloodwork insurance should cover the NIPT (although I cannot guarantee this, I am still waiting to confirm that mine was covered). Good luck tomorrow. 
    Me: 32 DH:33
    Married 9/2015
    TTC #1 6/2016
    BFP: 4/21/2017 - CP
    Dx Unexplained IF 6/2017
    Clomid + Ovidrel + IUI 7/2017 - Cancelled (overstimulated)
    Letrozole + Ovidrel + IUI #1 - BFN
    Letrozole + Ovidrel + IUI #2 -BFN
    Letrozole + Ovidrel + IUI#3 - BFP! EDD July 15 2018
    Baby Girl H - July 22 2018


  • @busymommy23 agree with the others- do the NIPT. From what my OB explained the NIPT is most accurate, then the NT blood work, then the second tri quad screen. Hopefully that will alleviate concerns or help you plan next steps. Sorry you’re going through this! 
  • Thank you all. I believe anthem stated it would be covered as long as there was a concern so I just need to find out where I am at with my deductible. Either way we are getting it done. I just am hoping for the beat at this point. After trying for 2 years to get pregnant with 1 miscarriage, this has been such a whirlwind of ups and downs. Im taking solace in the fact that the ultraspund was perfect!
    Married since 5/23/09
    Stepdaughter-2/17/02
    DS #1 born 1/25/10
    DS #2 born 4/25/12
    BFP 2/2016 M/C 3/2016 @ 5 weeks
    Trying for #4 since 11/2015
  • @busymommy23 I’m sorry for your history of struggles and now a worry :neutral: I know it’s so hard to just wait and wait to find more out because that means more time to worry and wonder about all the what ifs! One thing I’ve definitely learned lately is that there are a TON of pregnant women who go through a scare like this and most often it ends up being nothing! The waiting game is really a killer though. Thoughts are with you!! 
  • babybakiebabybakie member
    edited January 2018
    Thanks ladies for all the positive words, well wishes and support! 

    @Stlmegs thanks for the well wishes!!  I don't mean to come off as though I'm complaining about my situation. I'm lucky to be pregnant and so far no alarming blood results.... its  just my age of 43 but we knew that before trying. I imagine this waiting game is nerve racking for all of us no matter what the odds! I just want to share how even those scary fractions translate into less scary sounding percentages. 

    @LadyJ2949 I don't know what is considered the line between low risk and high risk, just that at 43 I will always be considered high risk. The doctors and counselors made it very clear they can't advise for or against an amnio. I am sure that could be a liability either way for them. It's just our personal choice to go for it. I spoke to the genetic counselor again today and she reconfirmed my blood work was good, so only my age Is bringing my risk factor up. She made me feel good about it.  Hopefully the NIPT will be in soon and be normal.  My OB was just misinterpreting the NT blood results which freaked me out. I am not going back to him. I have had numerous issues things which turned me off with him. Anyway, Stay positive! the point of my post was to try to express how the odds are in ALL our favor to have healthy babies, yet I feel all these tests and consultations that are meant to help actually breed fear and doubt in our minds. 

    @busymommy23 I am sorry you got a result that is bringing you anxiety. I really do feel some of these screenings just cause unnecessary worry. Your NT scan was good, that's great! And I have read tons of cases of how the NT blood work OFTEN comes back saying there is a problem when there is not!! Hang in there. May you get reassurance soon that you are on track. Odds are, everything is fine!!! 

    Edited to fix typos
  • Thank you all for the kind words. I am going to take all of your advice and talk with the dr and hope that eveeything will be fine. Im so thankful to have ladies like you to listen when I have a question or be there just to give support. So thanks again! 
    Married since 5/23/09
    Stepdaughter-2/17/02
    DS #1 born 1/25/10
    DS #2 born 4/25/12
    BFP 2/2016 M/C 3/2016 @ 5 weeks
    Trying for #4 since 11/2015
  • Are there any questions that you asked that were helpful when talking with the genetic counselor or the dr? I had a few that I thought of yesterday but I didnt write them down and now I cannot remember.
    Married since 5/23/09
    Stepdaughter-2/17/02
    DS #1 born 1/25/10
    DS #2 born 4/25/12
    BFP 2/2016 M/C 3/2016 @ 5 weeks
    Trying for #4 since 11/2015
  • @busymommy23 Unfortunately my NIPT test got screwed up and I hadn't had my NT yet, so the genetic counselor had no lab results other than my bloodwork for thalassemia (which is why we got referred).  We talked about thalassemia (which my OB thought I was a carrier for and the genetic counselor said I wasn't...) and Marfan's syndrome (my husband has a relative that died of it).  Pretty much she took an entire family history from both me and my husband and we talked about that. We didn't have many questions bc we didn't have any NIPT or NT results yet. Some questions could revolve around accuracy of tests, statistics of chances, other tests that can be performed, etc.
  • So DH and I met with the dr. He wouldnt give specific numbers but told me that our chance of downs was extremely low, no concern at all there, but our chance of trisomy 13 or 18 is 1 in 5....extremely high. I felt like someone punched me in the gut. We decided to move forward with the nipt, which I just had done at the lab. He told me that we would have to opt for the amnio because cvs isnt a good test for those trisomies. So now we have to wait a week to see what the nipt says and go from there. I think we may opt for an amnio even if the nipt comes back normal just to be certain but DH and I need to discuss more. I am trying to remain positive but I have to admit that it is difficult right now. Heres to hoping that the test comes back ok.
    Married since 5/23/09
    Stepdaughter-2/17/02
    DS #1 born 1/25/10
    DS #2 born 4/25/12
    BFP 2/2016 M/C 3/2016 @ 5 weeks
    Trying for #4 since 11/2015
  • oh @busymommy23 i am so sorry for those results, it must be worrisome! Hugs to you as you wait for the other blood work, and keep trying to stay positive! 
  • Oh @busymommy23 23, I am so sorry to hear this news.  I will keep you in my thoughts as you wait for these results!
    Meagan
    <3 Married 6.12.10 <3
    DS 11.8.12
     Baby GIRL! due 7.4.18
  • @busymommy23 I’m so sorry you’re going through this.  I hope the NIPT comes back low risk!  I would feel the same as you about doing the amnio even with low-risk NIPT results (and that’s what we did with baby #3).  If you need someone to talk to about having the amnio done, I’m here!  Big hugs!
    Married 9/19/09
    Me (32) Dx PCOS, DH (32) SA = Normal/mild morph issues
    TTC#5 July 2017 - 3rd cycle TTC = BFP on 11/12/17 at 9dpo Beta #1 = 96 at 13dpo - Beta #2 = 207 at 15dpo
    TTC#1  starting Nov. 2009
    3 rounds of Clomid + TI and 3 rounds of 7.5 mg Femara + IUI before our BFP on 11/8/10 at 12dpiui
    TTC #2 3rd cycle of Femara 7.5mg+Ovidrel+TI = 4 follies = BFP on 10/12/12 
    TTC#3 July 2014 - Metformin +TI = BFP at 9dpo - Twins, one baby lost at 5.5 weeks 
    Macy Annabelle born at 37w4d on 4/29/15.  Diagnosed with Cri du Chat and passed away on 6/6/15.  Forever in our hearts.
    TTC#4 3rd cycle of Metformin + Femara 7.5mg+Ovidrel+TI = 3 follies = BFP on 12/24/16
    BabyFruit Ticker
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