High-Risk Pregnancy
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High Risk NIPT Test Results- Chromosome Deletion

I decided to post my experience having a high risk NIPT (non-invasive Prenatal test) test result since I didn’t see many posts on it . At 10 weeks I had the NIPT test and 10 days later found that I was high risk (1/19 chance normally there is a 1/20,000) for cri du chat syndrome which a chromosome deletion. While there is not much information on cri du chat I was told if my daughter had it she would cry like a cat and have disabilities such as maybe never walking or talking and would never be able to live on their own. All of this was very frightening and we had to wait a week to talk to a genetic counselor.  Due to the serious of the condition we decided to have a CVS test they also performed a microarray test which apparently shows small chromosome deletions that might not be detected by the  normal CVS  test.  My CVS test came back normal but the sample was small so they had to grow it another two weeks for the microarray test. Finally a month later it came back normal too! We are so relieved. I wanted to post my story in case anyone else has had the same issue and could take some comfort that you may be worrying for nothing. It’s funny with my first daughter , which was only two years ago, I didn’t have any of these tests and never worried. While I think the NIPT test was great at first, I am now mad it caused me so much grief …but grateful everything is okay. 

 

Jamie

Re: High Risk NIPT Test Results- Chromosome Deletion

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    Thank you for posting your story. I had a friend that was told at her 20w u/s that her little girl had a hole in her diaphragm and stomach contents were in the chest. Further testing with an MRI showed no such hole-and weeks of worrying were completely unneeded. It was recommended that she abort the pg at 20w. Noninvasive tests and ultrasounds are not always right.
    TTC since 10/09 Me-43 DH-44 RE and testing 10/10-11/10, Recommending IVF 1/11 New RE AMA and DOR-DH low motility IVF #1.1 cancelled 3/11 due to poor response IVF #1.2 May 2011, one perfect 8-cell embryo, 3dt-BFN, IVF #2.1 Converted to IUI d/t poor response. New RE 9/2011. IVF 2.2 completed using HGH,EPP,DHEA, Q-10 and accupuncture. Transferred one 8-cell, grade one embryo on 10/19. BFP 10/31/11 Chemical pregancy on 11/2/11. Started stims for IVF #3, our final try, on 12-2-11. ET on 12/18. Transferred 3 Grade A embryos-BFFN Planning DE IVF, late March/early April- Donors ER expected to be 4/2-4/4. PAIF/SAIF welcome
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    Thank you for that! I hope a lot of people read this because most of us can use good news on here.
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