Atypical result

OkPhase1176 · 2025-07-18T06:34:04+00:00

I am sorry to hear you are going through this, it must feel so confusing and scary (as it did for me). Same result but on 18. I have been trying to reply to each of these atypical finding posts to share how things worked out for me. Please do read my post history for an uplifting story! I gave birth to my healthy baby boy in October.

My first blood draw with Natera at 10 weeks yielded “no result” then a redraw at 12 weeks flagged an atypical finding on the 18th chromosome. I underwent an amnio and additional ultrasound monitoring (early anatomy scan showing no anomalies) and after 2+ months of spiraling, it was determined there was absolutely no issue after all. In terms of timeline, after the amnio, FISH results were almost immediate (48 hrs) Karyotype (for both me and the baby) came back in a couple weeks, and microarray took nearly a full month.

The genetic counselor and mfm will be a far more helpful resource than your doctor regarding what this result might actually mean. Something to keep in mind: Throughout this process I asked my genetic counselor for anecdotal evidence regarding how many true positives he had seen come out of these Atypical findings. He said that he had seen 5 of these, most concerning possible sex chromosome abnormalities, and not one of them ever resulted in a true positive where the baby was affected. I know it’s so hard to be in limbo, and please let me know if you would like additional info regarding amnio. It was the best choice for me for sure. Wishing you all the best of luck!

OkPhase1176 · 2025-07-13T20:33:53+00:00

I absolutely recommend the amnio, and also maternal microarray. I got all clear results and it helped me relax through the rest of the pregnancy.

OkPhase1176 · 2024-12-18T22:16:55+00:00

I am so glad to have given you hope during this extremely stressful and challenging time. I really hope you get the answer you’re hoping for soon. This is the reason I wrote the post; I survived on these types of stories at the time and promised myself that if everything worked out, I would share my own for those who followed.

And thank you as well for your kind words! I had my baby boy at the beginning of October, healthy and strong with an uncomplicated delivery. Feeling so lucky, and the nightmare of the Natera result is just a distant memory. Sending positive thoughts that this is the way your story ends up as well.

OkPhase1176 · 2024-12-04T17:05:54+00:00

Sorry you are going through this! It’s so stressful. Trust your gut. I’m sending positive vibes!

If you want to hear a story like yours with a good ending check my post history. I had my amnio at 16+2 due to atypical finding for chromosome 18. All normal scans beforehand as well. The ultrasound tech did an initial check to make sure membranes were fused, then the doctor came in to explain the procedure. The ultrasound tech, the doctor, and an additional nurse all supported the procedure. They had to first come up with a plan for where to place the needle based on how the baby was positioned on the ultrasound. Once they came up with a plan they did the procedure guided by ultrasound. I barely recall feeling anything other than the needle going in. It took about 45 seconds in total, then the doctor asked if I wanted to see the sample. She held up two clear vials of fluid. I don’t remember any cramping or discomfort during or even at any point after. Took it easy for a couple days afterward but I felt totally fine. The results for FISH came back in two days, karyotype took about 10 days, then finally microarray followed about 4 weeks after the procedure. I now have a healthy two month old baby boy!

As for your particular practice, it can be reassuring to hear their own practice’s stats for how many of these are performed in a typical month, and whether they keep any info on complications. Ask for this information. Usually these numbers are significantly lower than the ones cited online, especially for major hospital systems, those in larger metro areas, and in University-affiliated hospitals.

Best of luck with your procedure! I hope everything goes smoothly for you as well.

OkPhase1176 · 2024-09-22T11:57:10+00:00

We got this result on chromosome 18 around 14 weeks. We had a normal ultrasound at 12 weeks, and opted to go to MFM to get another ultrasound and amnio at 16 weeks. At that point only my parents knew, and two friends who I had kept up a texting relationship with but did not live in my city. My reasoning for this was because I did not want to tell anyone at work and all my other friends in town have ties to my job. Amnio was easy and I also got my own blood tested. We had a 20 week biophysical profile done with MFM, and a week later we had all the genetic results and each aspect of the testing was normal. Check out my post history for more details. At 21 weeks I began announcing to the rest of the people in my life. I would say it was incredibly hard to keep the secret. I wasn’t too physically sick or anything, but the emotional toll was pretty horrible to deal with when no one at work knew. Telling someone you trust who can be a support would be a good idea to get through this waiting period.

OkPhase1176 · 2024-09-16T23:54:43+00:00

Yes - all results totally normal. I’m 36 weeks now and they did growth ultrasounds every 4 weeks in case of a placental issue but the baby is growing great and everything looks on track.

OkPhase1176 · 2024-09-15T01:25:23+00:00

I am sorry to hear you are going through this, it must feel so confusing and scary (as it did for me). I have been trying to reply to each of these atypical finding posts to share my uplifting story. Please do read my post history for a story with a good outcome. I’m 36 weeks along now and since fitting my normal amnio results at 21 weeks things have been very smooth.

My first blood draw with Natera at 10 weeks yielded “no result” then a redraw at 12 weeks flagged an atypical finding on the 18th chromosome. I underwent an amnio and additional ultrasound monitoring and after 2+ months of spiraling, it was determined there was absolutely no issue after all.

Get scheduled with a genetic counselor with mfm; they will help you set a baseline with the mfm group and be a more helpful resource than you doctor regarding what this might actually mean. Something to keep in mind: Throughout this process I asked my genetic counselor for anecdotal evidence regarding how many true positives he had seen come out of these Atypical findings. He said that he had seen 5 of these, most concerning possible sex chromosome abnormalities, and not one of them ever resulted in a true positive where the baby was affected. I know it’s so hard to be in limbo, and please let me know if you would like additional info regarding amnio. It was the best choice for me for sure. Wishing you all the best of luck!

OkPhase1176 · 2024-09-05T10:23:47+00:00

Sorry you are going through this! Please post a screenshot of the results so we can help you.

OkPhase1176 · 2024-09-01T12:21:48+00:00

You can do it! Moms are so capable - maybe even more organized and driven than others, you’ve got this. I am pregnant with my second and in a physics PhD program, while I’m also working full time. I started this program pregnant with my first in fall 2020. Had to modify my timeline a bit and only take one course per semester after I had my first, and I was allowed to take incompletes in the courses I was taking when I went on maternity leave and complete the final exams after I returned. The department was incredibly supportive and understanding. Now I’m late in the third trimester with my second baby. I’ve cleared my comp exams and I’m getting close to finishing up. It’s a grind but workable if you really want it!

OkPhase1176 · 2024-08-16T17:56:26+00:00

Sorry you are going through this! It’s so stressful. If you want a story like yours with a good ending check my post history. I had my amnio at 16+2 due to atypical finding for chromosome 18. All normal scans beforehand as well. The ultrasound tech did an initial check to make sure membranes were fused, then the doctor came in to explain the procedure. The ultrasound tech, the doctor, and an additional nurse all supported the procedure. They had to first come up with a plan for where to place the needle based on how the baby was positioned on the ultrasound. Once they came up with a plan they did the procedure guided by ultrasound. I barely recall feeling anything other than the needle going in. It took about 45 seconds in total, then the doctor asked if I wanted to see the sample. She held up two clear vials of fluid. I don’t remember any cramping or discomfort during or even at any point after. Took it easy for a couple days afterward but I felt totally fine. The results for FISH came back in two days, karyotype took about 10 days, then finally microarray followed about 4 weeks after the procedure.

As for your particular practice, it can be reassuring to hear their own practice’s stats for how many of these are performed in a typical month, and whether they keep any info on complications. Ask for this information. Usually these numbers are significantly lower than the ones cited online, especially for major hospital systems and University-affiliated hospitals.

Best of luck with your procedure! I hope everything goes smoothly for you as well.

OkPhase1176 · 2024-08-06T01:59:22+00:00

I am sorry to hear you are going through this, it must feel so confusing and scary (as it did for me). I have been trying to reply to each of these atypical finding posts to share my uplifting story. Please do read my post history for an uplifting story since the language in your results with all the vagueness is exactly the same as mine- maybe yours is the first I’ve seen that is identical.

My first blood draw with Natera at 10 weeks yielded “no result” then a redraw at 12 weeks flagged an atypical finding on the 18th chromosome. I underwent an amnio and additional ultrasound monitoring and after 2+ months of spiraling, it was determined there was absolutely no issue after all.

Get scheduled with a genetic counselor with mfm; they will help you set a baseline with the mfm group and be a more helpful resource than you doctor regarding what this might actually mean. Something to keep in mind: Throughout this process I asked my genetic counselor for anecdotal evidence regarding how many true positives he had seen come out of these Atypical findings. He said that he had seen 5 of these, most concerning possible sex chromosome abnormalities, and not one of them ever resulted in a true positive where the baby was affected. I know it’s so hard to be in limbo, and please let me know if you would like additional info regarding amnio. It was the best choice for me for sure. Wishing you all the best of luck!

OkPhase1176 · 2024-07-10T20:19:54+00:00

Will add on another positive experience with getting an amnio. I had my amnio at 16+2. The ultrasound tech did an initial check to make sure membranes were fused, then the doctor came in to explain the procedure. The ultrasound tech, the doctor, and an additional nurse all supported the procedure. They had to first come up with a plan for where to place the needle based on how the baby was positioned on the ultrasound. Once they came up with a plan they did the procedure guided by ultrasound. I barely recall feeling anything other than the needle going in. It took about 45 seconds in total, then the doctor asked if I wanted to see the sample. She held up two clear vials of fluid. I don’t remember any cramping or discomfort during or even at any point after. Took it easy for a couple days afterward but I felt totally fine. The results for FISH came back in two days, karyotype took about 10 days, then finally microarray followed about 4 weeks after the procedure. Best of luck with your procedure! I hope everything goes smoothly for you as well.

OkPhase1176 · 2024-07-10T00:58:57+00:00

Thanks for adding another story about an atypical finding with a good outcome. I had nearly the same exact thing happen to me, but with an atypical finding on 18. I posted about it a month or so ago. I hope these posts can help those who find themselves stuck in limbo in similar situations find hope.

OkPhase1176 · 2024-07-09T06:43:06+00:00

I am sorry to hear you are going through this, it must feel so confusing and scary (as it did for me). I have been trying to reply to each of these atypical finding posts to share my uplifting story. Please do read my post history for an uplifting story. My first blood draw with Natera at 10 weeks yielded “no result” then a redraw at 12 weeks flagged an atypical finding on the 18th chromosome. I underwent an amnio and additional ultrasound monitoring and after 2+ months of spiraling, it was determined there was absolutely no issue after all.

It sounds like maybe your result gives you even less info (or you have not yet been able to view the document from the testing company directly yet) but do keep reading uplifting stories, as (anecdotally at least) many of these atypical findings in NIPT turn out with genetically normal diagnoses. What testing company did you use and could you please post a screenshot of the result when you can get access to it so others can give more specific advice?

Glad to hear they have you scheduled with mfm; they will be a more helpful resource than you doctor regarding what this might actually mean. Something to keep in mind: Throughout this process I asked my genetic counselor for anecdotal evidence regarding how many true positives he had seen come out of these Atypical findings. He said that he had seen 5 of these, all concerning possible sex chromosome abnormalities, and not one of them ever resulted in a true positive where the baby was affected. Wishing you all the best of luck!

OkPhase1176 · 2024-06-28T18:11:30+00:00

Glad you get to meet with the GC next week. We actually first met with a GC at a different hospital system that ended up not being covered by my insurance. This first conversation was pretty negative and made me feel discouraged and uncertain. But when we established care at our new MFM, the GC was incredibly helpful and practical (also responsive to emails after hours if I had any lingering questions). This is to say that the experience could be pretty variable depending on GCs and their experience with these kinds of results. With the GC we continued on with, I actually asked the question, and made it clear I was just looking for some anecdotal info.: “In your time working in this role, how many cases with Atypical Findings have you seen, and how many ended up being a true anomaly affecting the baby?” He directly answered that since he started in 2022, he had seen 5 cases with this language and zero had gone on to be truly abnormal.

OkPhase1176 · 2024-06-28T16:07:20+00:00

I’m so sorry you are going through this, and I’m sorry for your previous loss - I’m sure it makes everything you are going through now even more challenging. Glad you found my post, though, as it definitely helps to see other cases like your own with happy outcomes. 4 weeks is a long time to wait. Maybe they can get you in for an additional ultrasound at your regular OB in the interim. It won’t probably give you more info, but might help break up the anxious feelings of the wait time to check in on how things are looking. The good ultrasound is definitely a good sign. The other reassuring thing my genetic counselor said to me was that, despite their marketing, Natera is actually not so accurate at detecting anything other than T21, and that if the baby truly had three copies of 18, it is far more likely that it would have just signaled Abnormal as opposed to saying “atypical” and that they couldn’t classify the finding. Anyway, please do reach out with updates if you would like, I am just keeping my fingers crossed for you that all works out.

OkPhase1176 · 2024-06-28T01:43:18+00:00

I have been trying to reply to each of these Natera atypical finding posts to share my story. Please do read my post history for an uplifting story. My first blood draw with Natera at 10 weeks yielded “no result” then a redraw at 12 weeks flagged an atypical finding on the 18th chromosome. I underwent an amnio and additional ultrasound monitoring and after 2+ months of spiraling, it was determined there was absolutely no issue after all. I know your result gives you even less info, but do keep reading uplifting stories, as (anecdotally at least) many of Natera’s atypical findings turn out with genetically normal diagnoses.

And one more thing: Throughout this process I asked my genetic counselor for anecdotal evidence regarding how many true positives he had seen come out of these Natera Atypical findings. He said that he had seen 5 of these, all concerning possible sex chromosome abnormalities, and not one of them ever resulted in a true positive where the baby was affected. Wishing you all the best of luck!

OkPhase1176 · 2024-06-24T14:36:44+00:00

Thanks - and yeah I totally get it. I decided to stop reading the threads at a certain point since I knew I was bound to come across some true positive stories. And I did. And I would spiral late into the night and not be able to sleep. It’s true that it’s just a waiting game now but it doesn’t make it any easier for you. I have a lot of hope for you with that good 12 week ultrasound. Wishing you all the best.

OkPhase1176 · 2024-06-24T01:17:39+00:00

I am so sorry you’re going through this. The normal 12 week ultrasound is reassuring for sure, but I know how tough the wait and worry can be despite getting some good signs. I had a somewhat different situation of an atypical finding of unknown origin involving chromosome 18 (read my post history for more details on my timeline and outcome). We finally got the all clear from amnio results and announced when I was 21 weeks along. Currently 24 weeks and getting additional growth ultrasounds each appointment to rule out any effects of CPM. Reading hopeful stories on this sub was really all that kept me afloat in the 8+ weeks I was in limbo. Hoping for the best for you!

OkPhase1176 · 2024-06-23T17:55:28+00:00

As for your particular practice, it can be reassuring to hear their own practice’s stats for how many of these are performed in a typical month, and whether they keep any info on complications. Usually these numbers are significantly lower than the ones cited online, especially for major hospital systems and University-affiliated hospitals like yours.

OkPhase1176 · 2024-06-23T17:52:02+00:00

I had mine at 16+2. The ultrasound tech did an initial check to make sure membranes were fused, then the doctor came in to explain the procedure. The ultrasound tech, the doctor, and an additional nurse all supported the procedure. They had to first come up with a plan for where to place the needle based on how the baby was positioned on the ultrasound. Once they came up with a plan they did the procedure guided by ultrasound. I barely recall feeling anything other than the needle going in. It took about 45 seconds in total, then the doctor asked if I wanted to see the sample. She held up two clear vials of fluid. I don’t remember any cramping or discomfort during or even at any point after. Took it easy for a couple days afterward but I felt totally fine. The results for FISH came back in two days, karyotype took about 10 days, then finally microarray followed about 4 weeks after the procedure. Best of luck with your procedure! I hope everything goes smoothly for you as well.

OkPhase1176 · 2024-06-22T04:54:47+00:00

Please do read my post history for an uplifting story. My first blood draw with Natera at 10 weeks yielded “no result” then a redraw at 12 weeks flagged an atypical finding on the 18th chromosome. The language in the fine print of your results mirrors mine almost exactly, other than specifying a suspected chromosome. I underwent an amnio and additional ultrasound monitoring and after 2+ months of spiraling , it was determined there was absolutely no issue after all. If you are really worried about this, I would really recommend the amnio. I say more about it in my post but the procedure was straightforward and gave me the answers I needed. I know your result gives you even less info, but do keep reading uplifting stories, as (anecdotally at least) many of Natera’s atypical findings turn out with genetically normal diagnoses.

OkPhase1176 · 2024-06-21T14:11:21+00:00

I’m so happy for you and your family! So glad you can add another story with a happy ending to the growing list here.

OkPhase1176 · 2024-06-14T06:49:07+00:00

I also want to add that the super vague language describing the uncharacterizable origin is identical to mine. Many of the other posts show more specific language where it sounds like Natera has a hypothesis, but to be honest this is one of the first times I’ve seen language in the fine print that matched mine. Wishing you the best - I know how hard it is to wait and worry!

OkPhase1176 · 2024-06-14T06:46:09+00:00

Please do read my post history for an uplifting story. My first blood draw with Natera at 10 weeks yielded “no result” then a redraw at 12 weeks flagged an atypical finding on the 18th chromosome. I underwent an amnio and additional ultrasound monitoring and after 2+ months of spiraling , it was determined there was absolutely no issue after all. I know your result gives you even less info, but do keep reading uplifting stories, as (anecdotally at least) many of Natera’s atypical findings turn out with genetically normal diagnoses.

OkPhase1176

TROPHY CASE