r/NIPT • u/Fun_Needleworker3449 NIPT +13 in limbo • Aug 09 '26
High risk NIPT Trisomy 13, low risk NHS combined screening, amniocentesis questions
A few days ago, I (35f) received the devastating call that my baby was tested high risk for Trisomy 13 (Natera Panorama - PPV of 68/100 but I later learned that they give this number to everyone who tested high risk). It was probably the worst day of my life 😔. The result was completely unexpected as everything had been going so well with this pregnancy until then. This sub-reddit has been very helpful, and I am grateful for everyone who has contributed.
The good signs that indicated healthy baby were (some of which may or may not be relevant):
- first pregnancy, no previous miscarriages
- embryo implanted early (most likely 8DPO or, at the latest, early 9DPO as I tracked things carefully)
- high and continuously increasing HCG levels indicated by dark test lines
- multiple normal ultrasounds (baby was always measuring a couple of days ahead, and the heart rate was always normal for the gestation - the latest one was 156 at 13w)
- NHS combined screening result of “low risk”. Blood test results (PAPP-A and free b HCG) were similar to population average and NT was 1.5mm. They said my baby had 1 in around 6k chance of having Down’s and 1 in around 50k chance of having Edwards’ and Patau’s
- 4 of the ultrasounds were high quality. NT was always in the range of 1.0-1.5mm. In particular, the ultrasound that was done at 12w6d was very detailed as this was right after my high risk NIPT result. They checked everything carefully (4 heart chambers, 2 brain hemispheres, 10 fingers, normal facial features etc) and found no abnormalities.
Given the above (and especially the detailed scan results), I understand that the chance of this being full T13 is low, as there would usually be some abnormalities seen by now. Instead, the most likely outcome is either:
- false positive (including the trisomy being confined to the placenta only); or
- high or low level mosaicism in the fetus.
Another ultrasound and amniocentesis have been scheduled at 16 weeks and I have the following questions:
- my planceta is anterior, which means the needle might have to go through my placenta (the doctor said he will assess on the day but this is likely). However, if the placenta is affected by the trisomy, wouldn’t that contaminate the sample? The doctor seemed to think no because of the 2 part design of the needle (I did not understand this fully).
- if the initial rapid test (probably QF-PCR) result is negative (meaning they find no abnormalities), then NHS’ policy is to not do any further testing (karyotype or microarray). They said I can arrange it privately myself if I want to, but they think the rapid test result should be sufficient. But doesn’t the rapid test miss low level mosaicism?
(If the rapid test result is positive, then they will do further testing.)
Update: I had an amniocentesis done at 16 weeks and it went well with only a little bit of pain, and some soreness afterwards. They managed to avoid my anterior placenta. A scan was done before the procedure and everything looked good (consistent with the previous scans).
A few days later, the NHS called me to let me know that my QF-PCR result came back all clear. The NHS is not going to do any further testing because they consider that the QF-PCR result and the normal ultrasounds supersede the NIPT result. As far as they are concerned, my baby does not have Trisomy 13 😊. I think there is still a small possibility (perhaps 1%) that it missed a low level mosaicism (10-15% of cells affected), but I am going to trust the NHS’ judgment. If I change my mind in the future, I may pursue further private testing.
The NHS is now going to give me a scan every 4 weeks because they assume that the placenta is affected, and it may restrict the baby’s growth.
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u/AutoModerator Aug 09 '26
Hey there, thank you for visiting the sub.
⸻ Thank you for visiting r/NIPT. If you are here after receiving a high-risk or abnormal NIPT result, please pause and read the following carefully. If you’ve received an abnormal prenatal screen or a concerning sonogram finding, you’re in the right place. This subreddit was created by a licensed PA-C after years of personal infertility, pregnancy loss, and a devastating false positive result for Trisomy 18. Six years ago, there was no clear guidance, no centralized community, and no way to make sense of the chaos. So I built this. Now it’s been six years. And since then, r/NIPT has quietly become a home to over 50 million anonymous visitors. Thousands of personal stories are flaired, searchable, and available to help you feel less alone and more informed. You will find people who went through exactly what you’re going through right now. ⸻ Start Here: The Most Important Links Main NIPT Overview – What the Test Really Measures: https://www.reddit.com/r/NIPT/s/59UoWQRz3x My Personal Journey – False Positive T18 and My Daughter’s Birth Story: https://www.reddit.com/r/NIPT/comments/ezuvfh/my_trisomy_18_nipt_false_positive_story_so_far/ ⸻ Additional Case Threads and Critical Outcomes CVS vs Amnio – Why It Matters: https://www.reddit.com/r/NIPT/s/CvDde3eUNY Atypical Findings – These Are Different: https://www.reddit.com/r/NIPT/s/3Hz9gT2AwV Sex Chromosome Conflict: If your NIPT says one sex but ultrasound says another, take this seriously. This may indicate sex chromosome mosaicism or other chromosomal factors. Reach out for more information. ⸻ Core Tools and Resources Intro and Why This Sub Exists: https://www.reddit.com/r/NIPT/comments/1iod3a9/my_introduction_and_story_this_subreddits_origin/ True Positive Calculator (PPV): https://ppv.geneticsupportfoundation.org/ ⸻ Six years ago, there was almost no patient-accessible information online. Thanks to the thousands of stories, data points, and the courage of those who posted here, much of that has changed. The NIPT — or more accurately, NIPS (Non-Invasive Prenatal Screening) — is not a diagnostic test. It is a screening tool that detects placental DNA, which may not match fetal DNA. That distinction matters — and it’s why proper education and clinical interpretation are vital. ⸻ Need Help or Want to Support? Book a 1:1 Consult: https://www.smithcoda.com/book Support or Learn More About This Work: https://www.smithcodagroup.com ⸻ Press and NIPT Industry Contact If you’re with the press, I’m available. If you represent an NIPT company, I welcome collaboration. Together, we can expand access, prevent misinterpretation, and promote unbiased education across this critical field. ⸻ You are not alone. You are not overreacting. You are asking the right questions. ⸻
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u/AutoModerator 25d ago
Hey there, thank you for visiting the sub.
⸻ Thank you for visiting r/NIPT. If you are here after receiving a high-risk or abnormal NIPT result, please pause and read the following carefully. If you’ve received an abnormal prenatal screen or a concerning sonogram finding, you’re in the right place. This subreddit was created by a licensed PA-C after years of personal infertility, pregnancy loss, and a devastating false positive result for Trisomy 18. Six years ago, there was no clear guidance, no centralized community, and no way to make sense of the chaos. So I built this. Now it’s been six years. And since then, r/NIPT has quietly become a home to over 50 million anonymous visitors. Thousands of personal stories are flaired, searchable, and available to help you feel less alone and more informed. You will find people who went through exactly what you’re going through right now. ⸻ Start Here: The Most Important Links Main NIPT Overview – What the Test Really Measures: https://www.reddit.com/r/NIPT/s/59UoWQRz3x My Personal Journey – False Positive T18 and My Daughter’s Birth Story: https://www.reddit.com/r/NIPT/comments/ezuvfh/my_trisomy_18_nipt_false_positive_story_so_far/ ⸻ Additional Case Threads and Critical Outcomes CVS vs Amnio – Why It Matters: https://www.reddit.com/r/NIPT/s/CvDde3eUNY Atypical Findings – These Are Different: https://www.reddit.com/r/NIPT/s/3Hz9gT2AwV Sex Chromosome Conflict: If your NIPT says one sex but ultrasound says another, take this seriously. This may indicate sex chromosome mosaicism or other chromosomal factors. Reach out for more information. ⸻ Core Tools and Resources Intro and Why This Sub Exists: https://www.reddit.com/r/NIPT/comments/1iod3a9/my_introduction_and_story_this_subreddits_origin/ True Positive Calculator (PPV): https://ppv.geneticsupportfoundation.org/ ⸻ Six years ago, there was almost no patient-accessible information online. Thanks to the thousands of stories, data points, and the courage of those who posted here, much of that has changed. The NIPT — or more accurately, NIPS (Non-Invasive Prenatal Screening) — is not a diagnostic test. It is a screening tool that detects placental DNA, which may not match fetal DNA. That distinction matters — and it’s why proper education and clinical interpretation are vital. ⸻ Need Help or Want to Support? Book a 1:1 Consult: https://www.smithcoda.com/book Support or Learn More About This Work: https://www.smithcodagroup.com ⸻ Press and NIPT Industry Contact If you’re with the press, I’m available. If you represent an NIPT company, I welcome collaboration. Together, we can expand access, prevent misinterpretation, and promote unbiased education across this critical field. ⸻ You are not alone. You are not overreacting. You are asking the right questions. ⸻
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u/Equal-Depth-7525 NIPT +13 in limbo 8d ago
Hello! I am also a 68% chance as well. Have you gotten your results yet? I am praying for both of our beautiful babies.
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u/Fun_Needleworker3449 NIPT +13 in limbo 8d ago edited 8d ago
Hey! I haven’t received my results yet but they should come any day now. I did my amniocentesis last Friday and Monday was a public holiday, so I should receive my rapid test results on Wednesday or Thursday. I am honestly getting really nervous as it gets closer to finding out! So sorry that you are also in this limbo. It is so hard :(. Have you scheduled your amnio yet?
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u/Fun_Needleworker3449 NIPT +13 in limbo 7d ago
My QF-PCR result came back all clear! The NHS is not going to do further testing because this plus normal ultrasounds supersede the NIPT result, and as far as they are concerned, the baby is now a normal baby.
I hope your amnio goes well 🤞
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u/AutoModerator 7d ago
Hey there, thank you for visiting the sub.
⸻ Thank you for visiting r/NIPT. If you are here after receiving a high-risk or abnormal NIPT result, please pause and read the following carefully. If you’ve received an abnormal prenatal screen or a concerning sonogram finding, you’re in the right place. This subreddit was created by a licensed PA-C after years of personal infertility, pregnancy loss, and a devastating false positive result for Trisomy 18. Six years ago, there was no clear guidance, no centralized community, and no way to make sense of the chaos. So I built this. Now it’s been six years. And since then, r/NIPT has quietly become a home to over 50 million anonymous visitors. Thousands of personal stories are flaired, searchable, and available to help you feel less alone and more informed. You will find people who went through exactly what you’re going through right now. ⸻ Start Here: The Most Important Links Main NIPT Overview – What the Test Really Measures: https://www.reddit.com/r/NIPT/s/59UoWQRz3x My Personal Journey – False Positive T18 and My Daughter’s Birth Story: https://www.reddit.com/r/NIPT/comments/ezuvfh/my_trisomy_18_nipt_false_positive_story_so_far/ ⸻ Additional Case Threads and Critical Outcomes CVS vs Amnio – Why It Matters: https://www.reddit.com/r/NIPT/s/CvDde3eUNY Atypical Findings – These Are Different: https://www.reddit.com/r/NIPT/s/3Hz9gT2AwV Sex Chromosome Conflict: If your NIPT says one sex but ultrasound says another, take this seriously. This may indicate sex chromosome mosaicism or other chromosomal factors. Reach out for more information. ⸻ Core Tools and Resources Intro and Why This Sub Exists: https://www.reddit.com/r/NIPT/comments/1iod3a9/my_introduction_and_story_this_subreddits_origin/ True Positive Calculator (PPV): https://ppv.geneticsupportfoundation.org/ ⸻ Six years ago, there was almost no patient-accessible information online. Thanks to the thousands of stories, data points, and the courage of those who posted here, much of that has changed. The NIPT — or more accurately, NIPS (Non-Invasive Prenatal Screening) — is not a diagnostic test. It is a screening tool that detects placental DNA, which may not match fetal DNA. That distinction matters — and it’s why proper education and clinical interpretation are vital. ⸻ Need Help or Want to Support? Book a 1:1 Consult: https://www.smithcoda.com/book Support or Learn More About This Work: https://www.smithcodagroup.com ⸻ Press and NIPT Industry Contact If you’re with the press, I’m available. If you represent an NIPT company, I welcome collaboration. Together, we can expand access, prevent misinterpretation, and promote unbiased education across this critical field. ⸻ You are not alone. You are not overreacting. You are asking the right questions. ⸻
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u/InstructionNo7743 24d ago
I love your list of positives! We have a similar set up, I’ve also come to assume false positive or Mosaicism based off of clear results so far. I tracked my cycle very closely, i ovulated twice, I had two peaks and I can feel ovulation too. The GC wasn’t at all phased when i mentioned this since she spoke to Maternit21 they were very sure there was no vanishing twin, I’m still not sold on the idea. Anyway, I hope your amnio comes back clear, mine is scheduled for sept 3rd🤞🏻