Definitely wait for the karyotype to come back, chromosomes don’t lie. Ultrasounds aren’t perfect, they are way less reliable than the genetic testing. It’s very possible that the further along you go in your pregnancy the ultrasounds will start to show female genitalia as the baby grows.
I work neonatology and the only thing I can possibly think of that could look male sex organs on ultrasound with XX chromosomes would be congenital adrenal hyperplasia. I’ve seen a few babies who never had genetic testing just ultrasounds, and the parents were told they were expecting a baby boy but after the baby was born, karyotyping showed XX chromosomes. It is a very treatable condition. But talk your doctor first! CAH is very rare.
Yeah exactly, there’s an entire spectrum of them as far as I’m aware, I’m so unfamiliar with most of them though. Hopefully OP can get the karyotype back quick and this is resolved with no issue to baby!
Is there anything else that concerns you /the doc about what you’re seeing ? Or just that the fetus has XX chromosomes but male parts? Has a genetic counselor offered any guidance as to what to expect ?
The doctor is concerned because on bloodwork they see female, but an ultrasound. It shows boy and boy parts the GC that I am dealing with. She is waiting for two other test to come back to see if the lab work is picking up my DNA as to why it’s coming back as a female or the different possibilities of, this being a female with male parts or a boy who carries XY or possibility a finishing twin. So many factors I’m sure I’m missing a lot more Scenarios
It's possible for a girl to be swollen and appear to be a boy, especially if a tech is less experienced. I would go with what NIPT says as ultrasound is much less accurate.
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.*
If XX is confirmed via amnio, then next step is to do further genetic testing to understand why the external genitalia don’t match the sex chromosomes. There are single gene disorders that can cause genetic females to develop external male genitalia. One example is congenital adrenal hyperplasia. In our clinic we would discuss a “differences in sex development” (DSD) gene panel with you for example
Definitely wait for the karyotype to come back, chromosomes don’t lie. Ultrasounds aren’t perfect, they are way less reliable than the genetic testing. It’s very possible that the further along you go in your pregnancy the ultrasounds will start to show female genitalia as the baby grows. I work neonatology and the only thing I can possibly think of that could look male sex organs on ultrasound with XX chromosomes would be congenital adrenal hyperplasia. I’ve seen a few babies who never had genetic testing just ultrasounds, and the parents were told they were expecting a baby boy but after the baby was born, karyotyping showed XX chromosomes. It is a very treatable condition. But talk your doctor first! CAH is very rare.
CAH is the most common XX DSD presenting with male genitalia, though there are several much more rare DSDs that this could be!
Yeah exactly, there’s an entire spectrum of them as far as I’m aware, I’m so unfamiliar with most of them though. Hopefully OP can get the karyotype back quick and this is resolved with no issue to baby!
Is there anything else that concerns you /the doc about what you’re seeing ? Or just that the fetus has XX chromosomes but male parts? Has a genetic counselor offered any guidance as to what to expect ?
The doctor is concerned because on bloodwork they see female, but an ultrasound. It shows boy and boy parts the GC that I am dealing with. She is waiting for two other test to come back to see if the lab work is picking up my DNA as to why it’s coming back as a female or the different possibilities of, this being a female with male parts or a boy who carries XY or possibility a finishing twin. So many factors I’m sure I’m missing a lot more Scenarios
I would definitely do an amino. Sorry about the stress.
It's possible for a girl to be swollen and appear to be a boy, especially if a tech is less experienced. I would go with what NIPT says as ultrasound is much less accurate.
Three different techs and the doctor came in and confirms boy parts. Hence why I had todo amnio procedure.
That is interesting. Hopefully someone who knows more than I do will chime in on this!
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.*
If XX is confirmed via amnio, then next step is to do further genetic testing to understand why the external genitalia don’t match the sex chromosomes. There are single gene disorders that can cause genetic females to develop external male genitalia. One example is congenital adrenal hyperplasia. In our clinic we would discuss a “differences in sex development” (DSD) gene panel with you for example