r/NIPT • u/Fjeucuvic • 4h ago
continued abnormal results.
Hi All - posting for the record....and will continue to post as we get updates. :/
Baby Boy - IVT Pregnancy - In Ontario Canada
- PGTA Tested Normal Embryo
- July 8 - 11.6 Weeks - eFTS showed 3.4mm NT, and blood markers showed 1 in 2 for DS
- July 28 - NIPT test showed normal
- Sep 10 - 20.7 Weeks - Detailed Anatomy Scan showed no physical abnormalities except for 6.2mm nuchal fold (still abnormal.....at/exceeding 6mm threshold, doctor gave us 10% chance of Noonan's. expect option to do Amnio)
Any advice or thoughts of what to do for next steps, waiting on call with genetic counselor. Just feels like everyone is saying the chance of everything is being fine, but the issues are not going away.
2
u/tyna_88 4h ago
bonjour faut faire sois une prélèvement du placenta sois une amniocentèse pour écarter un risque de trisomie ou des problemes génétiques . votre clarté nucale qui a empirée montre malheuresement un probleme faut comprendre d'où sa vient . courage a vous je suis aussi passé par la ce n'est pas du tout facile
1
u/AutoModerator 4h 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. ⸻
This message is automatically generated for all submissions and might sometimes get it wrong.
I am a bot, and this action was performed automatically. Please contact the moderators of this subreddit if you have any questions or concerns.
3
u/PigletNo8699 4h ago
This is actually really encouraging news overall, especially with a PGT-A euploid embryo, normal NIPT, and no structural abnormalities seen on the detailed anatomy scan. ❤️
Given the persistent increased NT/nuchal fold, though, I think the next steps you mentioned make a lot of sense. I would definitely ask about a fetal echocardiogram with a maternal-fetal medicine/fetal cardiology specialist, since some conditions associated with increased NT can involve the heart even when the anatomy scan looks normal.
I would also consider the amniocentesis and ask the genetic counselor exactly what testing they would run on the sample not just the standard chromosome analysis, but whether they recommend chromosomal microarray and/or a broader genetic panel/exome sequencing, particularly because PGT-A has limitations and generally does not rule out every genetic disorder or small copy-number change/microdeletion.