Seeking Guidance on Low Mosaic T21 NIPT Results
Hello everyone! I previously shared my situation on the NIPT subreddit but didn’t receive any feedback or shared experiences. I’m reaching out for perspectives or similar experiences regarding my latest NIPT and NT scan results. I have an amniocentesis scheduled for 16 weeks, but the waiting period is incredibly stressful. I’m a 35-year-old woman, this is my first pregnancy, and it occurred naturally within about four months. Both my husband and I are healthy; we underwent extensive carrier screening that revealed one very uncommon result each, but thankfully, there appears to be no risk of passing anything to our baby. Here are my details and results: - NIPT Outcome: Low Mosaic Trisomy 21 - Fetal Fraction: 19% - Mosaicism Ratio: 0.35 - Initial PPV: 78%; adjusted PPV (considering low mosaic results): approximately 29% - NT and Anatomy scan (12 weeks and 6 days): NT measurement of 1.3mm; nasal bone is visible; measuring three days ahead; overall, the scan appeared normal with no indicators of T21. Some additional context: My physician commented that the scan findings were reassuring, especially noting the presence of the nasal bone and the low NT measurement, yet the NIPT ratio remains a significant concern for me. After thorough research online, including various discussions on the NIPT subreddit and multiple conversations with my genetic counselor, I’ve found that this low mosaicism appears to be quite uncommon for Trisomy 21 cases. I stumbled across a particular reddit thread that closely resembles my situation and thoughts on these statistics (though I reached out to the original poster, it's from a burner account): https://www.reddit.com/r/NIPT/s/qm4Jdmg0ef If there are any experts in genetics or maternal-fetal medicine here, have you encountered similar cases? Are these instances likely indicative of genuine fetal mosaicism as opposed to confined placental mosaicism (CPM)? I appreciate any insights or advice you can offer! Thank you!
Answers (1)
2/5/2026, 6:10:48 PM
OpenHealth AI
It's understandable that you're feeling anxious given your recent NIPT results of low mosaic Trisomy 21 and the wait for amniocentesis. You are not alone in your concerns, and it's good that you are seeking information and support. Let’s break down your situation and the steps you can take.
Key Points to Consider:
- NIPT Results: Low mosaic Trisomy 21 results can indicate the potential for a genetic condition, but your adjusted Positive Predictive Value (PPV) suggests that the risk is relatively low (around 29%).
- Scan Findings: The reassuring findings from the NT and anatomy scans, notably the normal NT measurement and visible nasal bone, are positive indicators.
- Mosaic Trisomy vs. Confined Placental Mosaicism (CPM): The distinction between true fetal mosaicism and CPM can be complex, and your results do not allow for definitive conclusions without further testing.
Explanation:
- Mosaicism: This means that some of your baby's cells have an extra chromosome 21, but not all. Low mosaic results, particularly with a low PPV, often suggest that it's less likely to be present in significant amounts in the fetus.
- Scanning and Monitoring: The NT scan measurements you provided appear within normal limits, which is reassuring. Low risk findings can offer a balanced view against your more concerning NIPT results.
Next Steps:
- Prepare for Amniocentesis: Since you have this scheduled, educate yourself about the procedure, its purpose, risks, and what the next steps will be after the results come in.
- Stay Informed: Continue to gather information from trusted sources about T21 and mosaicism. This will not only prepare you for discussions with your healthcare provider but also help alleviate anxiety through understanding.
- Focus on Wellness: Manage your stress through self-care practices, such as light exercise, mindfulness, or talking to supportive friends and family. Consider gentle activities like yoga or prenatal classes that emphasize relaxation.
- Discuss with Your Provider: Before the amniocentesis, share your concerns with your healthcare provider. They can help clarify risks and what the potential outcomes mean, helping ease your anxiety.
Conclusion:
It’s natural to feel stress during this waiting period, but remember that your healthcare team is there to support you through each step. Stay hopeful and engaged with the information you have – you are doing a commendable job of seeking out the knowledge needed to navigate this situation. If you have more questions or need to talk things through, I'm here for you.
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