So stressed—NIPT said boy but no penis on any ultrasounds

sassygal922

Anyone else have this happen? I know it’s so rare for it to be wrong but I’ve had three scans in the last month and none have been able to find a penis. MFM at anatomy scan did say it was a girl but referred me to a genetic counselor because of the discrepancy in results. He said ultrasound showed no signs of ambiguous genitalia and it looked like a normal girl, but the three lines aren’t super visible (especially in earlier scans) and stark white and not sure why there would be a Y chromosome in my blood if I’m definitely having a girl. I’m just really lost and confused right now. I’m 19 weeks and also just fyi I had really early scans (like at 5-6 weeks) so a vanishing twin would have been caught.

harpseal135

I'm sure a MFM can tell the difference between a girl and boy.  Those NIPT test can and are wrong sometimes.  After 3 scans and three results saying girl I would be planning on a girl. 

It's nothing to be stressed about - you have a baby and the health is a million more times mire important than how it is going to pee and possibly reproduce in the future. 

QFP

sassygal922 said:

Anyone else have this happen? I know it’s so rare for it to be wrong but I’ve had three scans in the last month and none have been able to find a penis. MFM at anatomy scan did say it was a girl but referred me to a genetic counselor because of the discrepancy in results. He said ultrasound showed no signs of ambiguous genitalia and it looked like a normal girl, but the three lines aren’t super visible (especially in earlier scans) and stark white and not sure why there would be a Y chromosome in my blood if I’m definitely having a girl. I’m just really lost and confused right now. I’m 19 weeks and also just fyi I had really early scans (like at 5-6 weeks) so a vanishing twin would have been caught.

swoff

Hi! I am a genetic counselor but I don't specialize in prenatal so I am not going to be able to answer your question fully. You definitely should meet with a GC though just to talk through all the possible causes - I think it will bring you some peace of mind. The test can be wrong but there are also other causes like baby could have a Y chromosome that is missing the SRY gene (which is what leads to development of a penis). I wouldn't expect that to have any significant health effects, but again, we don't really know right now what exactly is the cause of the discrepancy. I'd be really shocked if there was something concerning for baby's health going on but I still think you should talk to someone so you have some clarity to help you get through the next 20 weeks. 

Cilo26

What ended up happening here? In the exact same situation.

expectingnyc

Would love to hear if you have an update!

I had my 20 week anatomy scan a little over a week ago and was told that the baby either has (i) ambiguous genitalia, (ii) micropenis, or (iii) hypospadias. I did an amniocentesis the next day to retest chromosomes (I already did a CVS which all came back normal) and to send for whole genome sequencing with the goal of ruling out any genetic issues. I have a f/u scan this Friday. 

All of this has been devastating in so many ways - ruining the gender surprise for my significant other, worrying about what could be wrong, wondering if I’ll have to make a decision to terminate (or not), how one or multiple of the potential issues could impact the quality of life for my unborn child, etc. I am trying so hard everyday to be positive and manifest a healthy and normal baby but it is a tremendous struggle. 

finalcountdown5

This news has to be stressful to hear. Your feelings are 100% valid. We have soo many great tools now and often times those tools aren't correct. I know so many stories from people I personally know that had US results that were not correct in the end. 

One the medical professionals were pressuring the parents to terminate. They were very religious so they did not. Their daughter was in my grade. She was perfectly healthy a beautiful girl. She had 1 surgery. One side was a little longer than the other. You'd have no idea if she didn't share that fact with you. She has 4 children now who are all also very healthy. 
Another girl I went to school with was supposed to be a boy according to the US. She was definitely not. Has 3 kids herself now. 

I know technology has advanced since these 2 stories. There is still hope that whomever created us has it under control and the technology we created may not be perfected.

Also it's 2024. If there is an issue with gender, of all the times to be alive I think now is the most favorable. I am praying for you and hoping you hear some good news Friday! I'm so sorry you are going through this at the moment. 

britters314

@reednm I really hope your doctors aren’t suggesting you terminate based on your scan. None of these conditions mean your child will have a lower quality of life. Hypospadias can be corrected with surgery. A micropenis is still fully functional and can be left alone or, if desired, can be treated with testosterone and/or surgery. Ambiguous genitalia can be addressed during infancy, though nowadays it’s probably more common and socially acceptable to wait until the child is old enough to make a decision on what to do.  But also, all of these conditions are rare and it’s possible your scan was just hard to read and your baby won’t actually have any of these conditions. Hopefully your follow-up scan was able to give a clearer picture!