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Indeterminate micro deletion

knottiec21bd39fb39f7301knottiec21bd39fb39f7301 member
in April 2023 Moms
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.
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Re: Indeterminate micro deletion

  • scaredunpreparedscaredunprepared member
    @knottiec21bd39fb39f7301 I'm honesty surprised your NIPT tested for microdeletions.  Our MFM said they typically don't test for all the micro deletions because there are just way too many to test for.  I would say wait until the amnio to really start looking into it because worrying now won't change anything.  I know that is much easier said than done.  I'm sorry you are going through this.
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  • acleverusernameacleverusername member
    Just adding my research input her: I came across this article, and it looks like the NIPT might be able to predict the presence of Chrom 15 microdeletions exclusively. 

    Something to remember is that NIPT is a screening  tool, not a diagnostic tool, so you might not need to be worried about it at all. As @scaredunprepared said, recommend waiting until after the amnio. Of course, I can say "don't worry" but that's not going to happen, right? So... try not to worry too much at this point.

    TTC History
    TTC#2
    Me: 41; MH: 40 | Met 02/2009 | Started Dating 08/2017 | Married 02/02/2020
    Mar 2024 | consult to get established with a new reproductive immunologist (Alan Beer Center)
    Apr/May 2024 | required testing & waiting for a protocol
    May 2024 | protocol given / decided to go back to my old reproductive immunologist, Dr. Jubiz
    Jun / Jul 2024 | more testing, incl. SIS, ultrasound, and endometrial biopsy
    Jul 2024 | Dx chronic endometritis; 14 days of 100mg of doxy given
    Sep 2024 | Repeat endometrial biopsy; still + for chronic endometritis. 2 more antibiotics + an antiviral
    Oct 2024 | Hysteroscopy turned polypectomy; endometriosis consult w/ specialist who confirmed high likelihood of endo based on symptoms and ultrasound; lots of blood tests ordered
    Mar 2025 | Endo excision surgery. Stage 3 endo found! Recoveing
    Apr 2025 | Planning transfer w/ RE & green light protocol w/ RI; target transfer July or August 2025
    May 2025 | Surprise BFP! EDD 1/11/2026


    TTC #1
    Me: 36, MH: 34 | Met 02/2009 | Started Dating 08/2017 | Married 02/02/2020
    TTC #1 02/2020 - 07/2022
    2009 | Dx PCOS; likely a misdiagnosis
    07/14/20 | Dx Hashimoto's Thyroditis
    07/21/20 | 1st RE appointment
    07/2120 - 08/20/20 | so much testing; no signs of PCOS
    08/20/20 | Dx Unexplained; AMA
    09/08/20 | IUI #1 Clomid + Trigger + Prometrium | BFN
    09/30/20 | Urology consult; more testing required
    10/2020 | Clomid + OPK + TI + Prometrium | BFN
    10/26/2020 | Starting 2nd IUI cycle, with Letrazole and with a new RE / different clinic
    11/03/2020 | New Dx "poor egg quality"; IUI cancelled in favor of Trigger + TI + Prometrium | BFN
    11/26/2020 | Combo IUI (Clomid + Menopur) + Trigger + Prometrium | BFN
    12/20/2020 | Combo IUI (Clomid + Gonal-F) + Trigger | IUI Cancelled due to thin lining; TI only | BFN
    01/14/2021 | Combo IUI (Letrazole + Menopur) + Trigger | BFN
    02/06/2021 | Switched to a new RE (TEW) ; trying naturally until we complete additional testing 
    03/14/2021 | Hybrid Double IUI, with Zymot (Letrazole, Gonal-F) + Trigger + Endometrin | Ovulated 4 mature eggs but still a BFN ☹️
    04/07/2021 | Natural cycle while we regroup | BFN
    04/09/2021 | Employer announces fertility benefits starting 05/01/2021! | Search for a new doctor who accepts insurance
    05/10/2021 | New RE consult & plan for IVF
    05/13/2021 | Mid-luteal IVF cycle #1 interrupted; had to get cancer genetic screening done to make sure I didn't have the same SDHA gene mutation as MH. 
    06/10/2021 | Aygestin priming IVF cycle #1; opted to Cx after 9 days of stims since only 5-6/12 follicles responded
    07/26/2021 | Attempt #2 at IVF cycle #1 (mid-luteal start): 8 retrieved, 8 MII, 6 fert (1 PN3), 3 Day 5 & 6 blasts: 3AA, 3AA, 6AB; 3 euploid
    08/09/2021 | Rest cycle / unmedicated TTC | Shockingly, a BFP! EDD: 5/25/202 | CP at 4w4d
    09/23/2021 | IVF cycle #2 (mid-luteal start): 14 retrieved, 13 MII, 11 fert, 5 Day 5 & 6 blasts: 2 x 3AA, 2 x 3AB, 3BB; 2 euploid
    11/12/2021 | IVF cycle #3 (mid-luteal start): cancelled due to ovaries being on vacation
    12/20/2021 | Rest cycle / unmedicated TTC + Pregmune Immunology Testing; BFN
    01/22/2022 | Rest cycle / unmedicated TTC + understanding uncovered immunological issues; BFN
    02/18/2022 | Mock transfer cycle! ERA, ReceptivaDx, EMMA/ALICE; start Prednisone to address NK activity
    03/16/2022 | Final, "Hail Mary" super-ovulation + TI cycle before FET; BFP! EDD: 12/21/2022 | MMC 05/08/2022
    05/20/2022 | D&C; recovering... 
    06/21/2022 | Trying naturally until October 2022
    07/21/2022 | BFP! EDD 04/02/2023; 👦🏼 born on 4/5/2023


    Report Reply
  • acleverusernameacleverusername member
    I would also check out this post on R e d d i t 's NIPT sub. It's very wordy, but very informative. 

    TTC History
    TTC#2
    Me: 41; MH: 40 | Met 02/2009 | Started Dating 08/2017 | Married 02/02/2020
    Mar 2024 | consult to get established with a new reproductive immunologist (Alan Beer Center)
    Apr/May 2024 | required testing & waiting for a protocol
    May 2024 | protocol given / decided to go back to my old reproductive immunologist, Dr. Jubiz
    Jun / Jul 2024 | more testing, incl. SIS, ultrasound, and endometrial biopsy
    Jul 2024 | Dx chronic endometritis; 14 days of 100mg of doxy given
    Sep 2024 | Repeat endometrial biopsy; still + for chronic endometritis. 2 more antibiotics + an antiviral
    Oct 2024 | Hysteroscopy turned polypectomy; endometriosis consult w/ specialist who confirmed high likelihood of endo based on symptoms and ultrasound; lots of blood tests ordered
    Mar 2025 | Endo excision surgery. Stage 3 endo found! Recoveing
    Apr 2025 | Planning transfer w/ RE & green light protocol w/ RI; target transfer July or August 2025
    May 2025 | Surprise BFP! EDD 1/11/2026


    TTC #1
    Me: 36, MH: 34 | Met 02/2009 | Started Dating 08/2017 | Married 02/02/2020
    TTC #1 02/2020 - 07/2022
    2009 | Dx PCOS; likely a misdiagnosis
    07/14/20 | Dx Hashimoto's Thyroditis
    07/21/20 | 1st RE appointment
    07/2120 - 08/20/20 | so much testing; no signs of PCOS
    08/20/20 | Dx Unexplained; AMA
    09/08/20 | IUI #1 Clomid + Trigger + Prometrium | BFN
    09/30/20 | Urology consult; more testing required
    10/2020 | Clomid + OPK + TI + Prometrium | BFN
    10/26/2020 | Starting 2nd IUI cycle, with Letrazole and with a new RE / different clinic
    11/03/2020 | New Dx "poor egg quality"; IUI cancelled in favor of Trigger + TI + Prometrium | BFN
    11/26/2020 | Combo IUI (Clomid + Menopur) + Trigger + Prometrium | BFN
    12/20/2020 | Combo IUI (Clomid + Gonal-F) + Trigger | IUI Cancelled due to thin lining; TI only | BFN
    01/14/2021 | Combo IUI (Letrazole + Menopur) + Trigger | BFN
    02/06/2021 | Switched to a new RE (TEW) ; trying naturally until we complete additional testing 
    03/14/2021 | Hybrid Double IUI, with Zymot (Letrazole, Gonal-F) + Trigger + Endometrin | Ovulated 4 mature eggs but still a BFN ☹️
    04/07/2021 | Natural cycle while we regroup | BFN
    04/09/2021 | Employer announces fertility benefits starting 05/01/2021! | Search for a new doctor who accepts insurance
    05/10/2021 | New RE consult & plan for IVF
    05/13/2021 | Mid-luteal IVF cycle #1 interrupted; had to get cancer genetic screening done to make sure I didn't have the same SDHA gene mutation as MH. 
    06/10/2021 | Aygestin priming IVF cycle #1; opted to Cx after 9 days of stims since only 5-6/12 follicles responded
    07/26/2021 | Attempt #2 at IVF cycle #1 (mid-luteal start): 8 retrieved, 8 MII, 6 fert (1 PN3), 3 Day 5 & 6 blasts: 3AA, 3AA, 6AB; 3 euploid
    08/09/2021 | Rest cycle / unmedicated TTC | Shockingly, a BFP! EDD: 5/25/202 | CP at 4w4d
    09/23/2021 | IVF cycle #2 (mid-luteal start): 14 retrieved, 13 MII, 11 fert, 5 Day 5 & 6 blasts: 2 x 3AA, 2 x 3AB, 3BB; 2 euploid
    11/12/2021 | IVF cycle #3 (mid-luteal start): cancelled due to ovaries being on vacation
    12/20/2021 | Rest cycle / unmedicated TTC + Pregmune Immunology Testing; BFN
    01/22/2022 | Rest cycle / unmedicated TTC + understanding uncovered immunological issues; BFN
    02/18/2022 | Mock transfer cycle! ERA, ReceptivaDx, EMMA/ALICE; start Prednisone to address NK activity
    03/16/2022 | Final, "Hail Mary" super-ovulation + TI cycle before FET; BFP! EDD: 12/21/2022 | MMC 05/08/2022
    05/20/2022 | D&C; recovering... 
    06/21/2022 | Trying naturally until October 2022
    07/21/2022 | BFP! EDD 04/02/2023; 👦🏼 born on 4/5/2023


    Report Reply
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