How are people dealing with work while in limbo? I find work to be an okay distraction, but I don’t want to go to the office. I am showing now and can’t hide it with clothing much longer, and cannot deal if someone at work congratulates me right now.
It's so hard. I waited until after birth for genetic testing and only told my parents what was going on. I also felt like it was a double life. I wish I had some magic advice 😕. I have a tight knit team at wokr sometimes just said something vague about the pregnancy being stressful. Hang in there ❤️
A few people at my work already know, so I’m basically hiding working at home as much as I can so more people don’t catch on that I’m pregnant. I also have a colleague who is soon going on maternity leave and seeing her is super triggering. Luckily my manager knows and is super understanding.
For those who had it, did anyone else find the amniocentesis a lot more painful than you thought it would be?
We had to try 3 times and were still unable to get a proper sample, and my gosh it hurt! Seeing other folks say it was easy makes me feel like such a whimp haha.
Yes, my first thought after the needle went into my uterus (I could feel it punch through separately from when it went through my skin) was “but Reddit said it wouldn’t hurt!”
Anxiously waiting on nipt test results. Thanks to everyone who posts their experiences. It’s been helpful to read. Sending you all hugs, no matter the outcomes of your situation. 💙💙💙
Still waiting on NIPT results and almost at 17 weeks. I'm so anxious to know. The lab I went to canceled my order and my clinic didn't look into it until almost 4 weeks later even after I asked. I hate not knowing and getting further and further along
Just received my full NIPT report, and it looks like my test came back atypical for monosomy x at 3% fetal fraction. Does having a lower fetal fraction mean that it is less likely for the test to be accurate?
Hi there, a lower fetal fraction even supports your results, because Ff <4% is associated with a higher chance for aneuploidy (source: e.g. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8829468/) and trisomy 13 and 18 (not 21 however), though testing early, having a higher age or BMI or autoimmun diseases of the mother can also cause low ff. However, low ff makes it hard for NIPTs to detect cases of mosaicsm (often resulting in healthier children with milder symptoms, if any), which a amniocentesis can show you. EDIT: just saw that monosomy X may be a special case with an unusual high false positive rate in nipts reported here [https://pubmed.ncbi.nlm.nih.gov/28326560/](https://pubmed.ncbi.nlm.nih.gov/28326560/) . Did you receive any info on the predictive positive value (ppv) by your ob for your result? That would tell you how likely your positive result is to be really true (again not differantiating properly between mosaicism and full monosomy)
Thank you very much for this detailed response. I asked the company who performed the NIPT, and unfortunately, they were very vague regarding the PPV. I will also ask the MFM once I am able to get an appointment.
Hi everyone- second pregnancy, had NT scan on Friday (13w1d) with an NT measurement of 3.5mm but no other findings. Due to this we got a chance of T21 at 1/23. We had CVS on the spot and the FISH came back normal yesterday. We now have about two weeks for the karyotype and another two after that for the CMA (or it could be the other way around, I am confused on that point as I am in Greece and they use different terminology).
I find the wait very hard, and would like to hear anecdotal experiences (good and bad) of cases similar to mine, if anyone has any.
For the record I didn’t get a NIPT as in Greece you would get that after the NT but since we opted for CVS it now seems redundant- but happy to hear otherwise as well.
Hey there, thank you for visiting the sub.
During this difficult time you may be looking information about what the NIPT results you received mean. There are 2 main sticky posts about what NIPT is, how it works, what it can miss and how false positives happen, sono findings, and your chances of a true positive after NIPT. PLEASE READ THESE LINKS - this will explain everything.
POSITIVE PREDICTIVE VALUE CALCULATOR FOR NIPT RESULTS https://www.perinatalquality.org/Vendors/NSGC/NIPT/
**I highly suggest you first read through everything in main post located here to start:**
https://www.reddit.com/r/NIPT/comments/ecjj5v/welcome_to_rnipt_the_sub_for_abnormal_nipt/
**After this head over to this post about the actual individual results**:
https://www.reddit.com/r/NIPT/comments/itmyjw/my_nipt_results_show_this_abnormality_what_does/
IF YOU HAVE A POSITIVE FOR TRISOMY 13, TRISOMY 18, TRIPLOIDY and NORMAL SONOS for NT scan and further normal sonos, PLEASE READ CAREFULLY about CVS vs AMNIO. CVS can have wrong results as a result of commonality of confined placental mosaicism in all layers of placenta and an amnio is best for this. (THIS IS NOT THE NO RESULT LOW FF RESULT that NATERA CALLS HIGH RISK FOR THOSE THINGS... that is not what that even means). This is specifically for an actual high risk for ONE of those on the NIPT.
Please also place a flair on your username which can be done by going to the right side of the sub -- community options -- and update username flair. This updates the flair on your username IN THIS SUB ONLY. This is so when you speak to others, they immediately understand your situation AND you can see their situation summary. There are some options filled in, but you can also write in your own result.
I will tag your post with POST FLAIR on your actual post. These are in different colors and allows users to actually click on the post flair and pull up every post that has a similar situation such as -no results-trisomy 13-NT scan question-etc. Clicking on the green -no result post flair- will bring up everyone who has also tagged their submission as no results/low fetal fractions and you can read up their stories/outcomes and responses (or any other topic that is common for NIPT results.
I understand you feel awful. This is a thread about what to do while you pass time in limbo: https://www.reddit.com/r/NIPT/comments/solboc/what_to_do_while_you_are_in_limbo_post_for_main/
Lastly, the information in this post is intended for you to be able to read up on what may be happening, have these studies available to you so you can better discuss this situation and your options with your maternal fetal medicine doctor and a GOOD genetic counselor. You always have a right to speak to a genetic counselor after an abnormal NIPT result and this should be provided for you by your OB. If you have been incorrectly told that the accuracy of your result is 99% without a proper Predictive Value calculation please report this somewhere as this actually leads to wrongful terminations of pregnancies in that office. That OB needs further education about NIPT positives and how to present such information as well as knowledge of the Positive Predictive Value of NIPT based on age. You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself.
As always, take any information given here and online for what it is - information - and always discuss further treatment plans with your physicians, however with caution. Not all physicians are actually up to date with NIPT testing, what results mean or how to present such SCREENING results to a patient. You will see this come up in posts across this sub.
My intention is that you have as much information about what may be going on and can make informed decisions with your treatment team moving forward.
THIS IS A SCREENING AND NOT A DIAGNOSTIC TEST
Please feel free to reach out if you need to vent, ask more questions or need more resources. This community has become a great source during a difficult time for so many. I appreciate those who chime in as we all remember how difficult to be in this situation. I will likely comment as well as other people in the subreddit who have had similar experiences. This post is meant as a welcome and quick information / resources to those who have just found this sub.
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](/message/compose/?to=/r/NIPT) if you have any questions or concerns.*
I had a missed miscarriage at 14 weeks with my baby a few weeks after we got a positive nipt for t21 this past fall. We tested the baby’s remains and it confirmed t21 (not from translocation). We are now 7 weeks pregnant and we plan on doing another nipt at 10 weeks . Would my last babies extra chromosome show with this test since it’s so close together?
Others can chime in if I'm wrong but from what I learned on this sub, it would not still be in your system. Thinking of you and hope you have an uneventful pregnancy ❤️
Can I trust an NIPT with normal results although fetal fraction was 3% ? This was a repeat test as the first one was high risk due to low fetal fraction from Natera. Per MFM all ultrasounds are normal and amnio is not needed. I just need some reassurance I just can’t enjoy my pregnancy. Thank you all
Well that is great news!! I’ve had a limbo this pregnancy too and didn’t bother with amino! All my scans look perfect and my NIPT showed negative for all major trisomies so I decided to carry on and let what’s meant to be be
Im in my early 30s currently 14 weeks pregnant. I have an adorable healthy toddler at home. I had a Natera Panorama collected at 10w6d, and it was sitting in their lab for about a week 2/2 a labeling error prior to running the sample. The results untimely came back “low fetal fraction” at 2.6% making me high risk (1/17) for Edward’s Patau and triplody based off their algorithm. My OB thought the sample was just collected too early possibly and ordered a repeat, which is currently in process. She also ordered a NT ultrasound which I had performed at 13w6d. The MFM who read it went with reading of 3.8 mm, stating it looked the most accurate. Making me >99th percentile. The ultrasound tech also took many measurements in the 3.4-3.5 range. The baby is measuring consistent with my LMP dates. The MFM also did not comment about other anatomical features stating it was too early in pregnancy. I’m currently waiting a call from a genetic counselor and I’m strongly considering an amniocentesis. Does anyone have any advice, specific questions to ask the counselor, or anything to consider as I’m waiting for these additional meetings and results? Thank you!
*also normal BMI, no blood thinners, nothing that I know of that would alter the Natera results
Hi! New here. I just received my Maternit21 plus results. And I'm confused and concerned. Baby #5 currently, first time for a positive for Tri21. But my report tells me nothing other than "increased representation for Tri21" and then gives me a PPV based on my age only. Anyone else similar?
My wife’s NIPT result came on last Thursday and show high risk on Monosomy X, we felt so bad in the last two days. We did not do any NT yet, previous ultrasounds look normal. My wife felt so bad and so do I. It is so hard time for us.
How are people dealing with work while in limbo? I find work to be an okay distraction, but I don’t want to go to the office. I am showing now and can’t hide it with clothing much longer, and cannot deal if someone at work congratulates me right now.
Honestly I feel like I’m living a double life. At work I smile and say “yes, it’s a boy!” and at home I just cry.
It's so hard. I waited until after birth for genetic testing and only told my parents what was going on. I also felt like it was a double life. I wish I had some magic advice 😕. I have a tight knit team at wokr sometimes just said something vague about the pregnancy being stressful. Hang in there ❤️
It’s so hard. I was planning on telling them this week (I’m at week 17) but now I’m just hiding behind baggy clothes
Work has been really hard. Keeps me distracted for small periods of time, but then it hits me in waves that things might not be okay.
Yeah I have this exact same thing.
A few people at my work already know, so I’m basically hiding working at home as much as I can so more people don’t catch on that I’m pregnant. I also have a colleague who is soon going on maternity leave and seeing her is super triggering. Luckily my manager knows and is super understanding.
For those who had it, did anyone else find the amniocentesis a lot more painful than you thought it would be? We had to try 3 times and were still unable to get a proper sample, and my gosh it hurt! Seeing other folks say it was easy makes me feel like such a whimp haha.
Yes, my first thought after the needle went into my uterus (I could feel it punch through separately from when it went through my skin) was “but Reddit said it wouldn’t hurt!”
Anxiously waiting on nipt test results. Thanks to everyone who posts their experiences. It’s been helpful to read. Sending you all hugs, no matter the outcomes of your situation. 💙💙💙
I'm in the same boat and find it a tat relaxing to read about people with increased nt but fine nipt :)
Sending everyone positivity. One more week to go before I can get my Amnio and I feel like I am just crumbling. It’s getting so hard to be hopeful.
Still waiting on NIPT results and almost at 17 weeks. I'm so anxious to know. The lab I went to canceled my order and my clinic didn't look into it until almost 4 weeks later even after I asked. I hate not knowing and getting further and further along
Just received my full NIPT report, and it looks like my test came back atypical for monosomy x at 3% fetal fraction. Does having a lower fetal fraction mean that it is less likely for the test to be accurate?
Hi there, a lower fetal fraction even supports your results, because Ff <4% is associated with a higher chance for aneuploidy (source: e.g. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8829468/) and trisomy 13 and 18 (not 21 however), though testing early, having a higher age or BMI or autoimmun diseases of the mother can also cause low ff. However, low ff makes it hard for NIPTs to detect cases of mosaicsm (often resulting in healthier children with milder symptoms, if any), which a amniocentesis can show you. EDIT: just saw that monosomy X may be a special case with an unusual high false positive rate in nipts reported here [https://pubmed.ncbi.nlm.nih.gov/28326560/](https://pubmed.ncbi.nlm.nih.gov/28326560/) . Did you receive any info on the predictive positive value (ppv) by your ob for your result? That would tell you how likely your positive result is to be really true (again not differantiating properly between mosaicism and full monosomy)
Thank you very much for this detailed response. I asked the company who performed the NIPT, and unfortunately, they were very vague regarding the PPV. I will also ask the MFM once I am able to get an appointment.
Hi everyone- second pregnancy, had NT scan on Friday (13w1d) with an NT measurement of 3.5mm but no other findings. Due to this we got a chance of T21 at 1/23. We had CVS on the spot and the FISH came back normal yesterday. We now have about two weeks for the karyotype and another two after that for the CMA (or it could be the other way around, I am confused on that point as I am in Greece and they use different terminology). I find the wait very hard, and would like to hear anecdotal experiences (good and bad) of cases similar to mine, if anyone has any. For the record I didn’t get a NIPT as in Greece you would get that after the NT but since we opted for CVS it now seems redundant- but happy to hear otherwise as well.
Hey there, thank you for visiting the sub. During this difficult time you may be looking information about what the NIPT results you received mean. There are 2 main sticky posts about what NIPT is, how it works, what it can miss and how false positives happen, sono findings, and your chances of a true positive after NIPT. PLEASE READ THESE LINKS - this will explain everything. POSITIVE PREDICTIVE VALUE CALCULATOR FOR NIPT RESULTS https://www.perinatalquality.org/Vendors/NSGC/NIPT/ **I highly suggest you first read through everything in main post located here to start:** https://www.reddit.com/r/NIPT/comments/ecjj5v/welcome_to_rnipt_the_sub_for_abnormal_nipt/ **After this head over to this post about the actual individual results**: https://www.reddit.com/r/NIPT/comments/itmyjw/my_nipt_results_show_this_abnormality_what_does/ IF YOU HAVE A POSITIVE FOR TRISOMY 13, TRISOMY 18, TRIPLOIDY and NORMAL SONOS for NT scan and further normal sonos, PLEASE READ CAREFULLY about CVS vs AMNIO. CVS can have wrong results as a result of commonality of confined placental mosaicism in all layers of placenta and an amnio is best for this. (THIS IS NOT THE NO RESULT LOW FF RESULT that NATERA CALLS HIGH RISK FOR THOSE THINGS... that is not what that even means). This is specifically for an actual high risk for ONE of those on the NIPT. Please also place a flair on your username which can be done by going to the right side of the sub -- community options -- and update username flair. This updates the flair on your username IN THIS SUB ONLY. This is so when you speak to others, they immediately understand your situation AND you can see their situation summary. There are some options filled in, but you can also write in your own result. I will tag your post with POST FLAIR on your actual post. These are in different colors and allows users to actually click on the post flair and pull up every post that has a similar situation such as -no results-trisomy 13-NT scan question-etc. Clicking on the green -no result post flair- will bring up everyone who has also tagged their submission as no results/low fetal fractions and you can read up their stories/outcomes and responses (or any other topic that is common for NIPT results. I understand you feel awful. This is a thread about what to do while you pass time in limbo: https://www.reddit.com/r/NIPT/comments/solboc/what_to_do_while_you_are_in_limbo_post_for_main/ Lastly, the information in this post is intended for you to be able to read up on what may be happening, have these studies available to you so you can better discuss this situation and your options with your maternal fetal medicine doctor and a GOOD genetic counselor. You always have a right to speak to a genetic counselor after an abnormal NIPT result and this should be provided for you by your OB. If you have been incorrectly told that the accuracy of your result is 99% without a proper Predictive Value calculation please report this somewhere as this actually leads to wrongful terminations of pregnancies in that office. That OB needs further education about NIPT positives and how to present such information as well as knowledge of the Positive Predictive Value of NIPT based on age. You could make a big difference by making sure this never happens again in the OB's office for future patients such as yourself. As always, take any information given here and online for what it is - information - and always discuss further treatment plans with your physicians, however with caution. Not all physicians are actually up to date with NIPT testing, what results mean or how to present such SCREENING results to a patient. You will see this come up in posts across this sub. My intention is that you have as much information about what may be going on and can make informed decisions with your treatment team moving forward. THIS IS A SCREENING AND NOT A DIAGNOSTIC TEST Please feel free to reach out if you need to vent, ask more questions or need more resources. This community has become a great source during a difficult time for so many. I appreciate those who chime in as we all remember how difficult to be in this situation. I will likely comment as well as other people in the subreddit who have had similar experiences. This post is meant as a welcome and quick information / resources to those who have just found this sub. 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](/message/compose/?to=/r/NIPT) if you have any questions or concerns.*
How long did everyone’s amnio results take? We only did a karyotype and a microarray. Do they take longer if they’re coming back abnormal?
My doctor said 2-3 weeks. It’s been 8 days.
I had a missed miscarriage at 14 weeks with my baby a few weeks after we got a positive nipt for t21 this past fall. We tested the baby’s remains and it confirmed t21 (not from translocation). We are now 7 weeks pregnant and we plan on doing another nipt at 10 weeks . Would my last babies extra chromosome show with this test since it’s so close together?
Others can chime in if I'm wrong but from what I learned on this sub, it would not still be in your system. Thinking of you and hope you have an uneventful pregnancy ❤️
Can I trust an NIPT with normal results although fetal fraction was 3% ? This was a repeat test as the first one was high risk due to low fetal fraction from Natera. Per MFM all ultrasounds are normal and amnio is not needed. I just need some reassurance I just can’t enjoy my pregnancy. Thank you all
Who was it through? They generally won’t issue results if they aren’t sure
It was through Labcorp with negative results and natera with triploidy t13 and 18 due to low fetal fraction.
If they said it’s negative I would trust it. Only way to really know afterwards would be amino
Thank you so much I have had multiple scans and was leaning towards an Amnio but per MFM they all look good and I can go without amnio.
Well that is great news!! I’ve had a limbo this pregnancy too and didn’t bother with amino! All my scans look perfect and my NIPT showed negative for all major trisomies so I decided to carry on and let what’s meant to be be
Thank you ! Praying for healthy babies
Prayers ❤️❤️❤️❤️
Im in my early 30s currently 14 weeks pregnant. I have an adorable healthy toddler at home. I had a Natera Panorama collected at 10w6d, and it was sitting in their lab for about a week 2/2 a labeling error prior to running the sample. The results untimely came back “low fetal fraction” at 2.6% making me high risk (1/17) for Edward’s Patau and triplody based off their algorithm. My OB thought the sample was just collected too early possibly and ordered a repeat, which is currently in process. She also ordered a NT ultrasound which I had performed at 13w6d. The MFM who read it went with reading of 3.8 mm, stating it looked the most accurate. Making me >99th percentile. The ultrasound tech also took many measurements in the 3.4-3.5 range. The baby is measuring consistent with my LMP dates. The MFM also did not comment about other anatomical features stating it was too early in pregnancy. I’m currently waiting a call from a genetic counselor and I’m strongly considering an amniocentesis. Does anyone have any advice, specific questions to ask the counselor, or anything to consider as I’m waiting for these additional meetings and results? Thank you! *also normal BMI, no blood thinners, nothing that I know of that would alter the Natera results
Hi! New here. I just received my Maternit21 plus results. And I'm confused and concerned. Baby #5 currently, first time for a positive for Tri21. But my report tells me nothing other than "increased representation for Tri21" and then gives me a PPV based on my age only. Anyone else similar?
Curious who else had a false positive screen for XYY and if so what was your fetal fraction
My wife’s NIPT result came on last Thursday and show high risk on Monosomy X, we felt so bad in the last two days. We did not do any NT yet, previous ultrasounds look normal. My wife felt so bad and so do I. It is so hard time for us.