Sex / Gender confusion?

chopsnoni · September 2015

Hi Ladies, I'm wondering if anyone has ever heard of my current situation before.
I had the NIPT genetic testing done at 10.5 weeks and found out a week later that there was very low risk of genetic issues and that we were having a little boy. A few days ago at my 20 wk scan the tech asked if we knew what we were having and we told her boy (and it was on my file) but throughout the whole ultrasound kept looking between the legs and not saying anything. She even did an internal ultrasound to double check, then called in the Dr. Turns out our little one is clearly a little girl, and now there is an issue of why the NIPT test showed Y chromosomes in my blood yet I'm having a girl.

They have retested my initial blood sample and had the same result, and I have an appt tomorrow with a genetic specialist dr to discuss what this means, as they are keen to do an amnio to rule out genetic sex chromosome issues.

Not sure what to do / think and whether it's with risking an amnio when the NIPT test could have just been wrong?!

TIA

cawalp · September 2015

I have never heard of this but the blood tests they do that determine the sex can't be wrong when a Y chromosome shows up. If it said a girl and turned out to be a boy, they could have just missed the Y but if they found the Y, it's definitely not yours so it has to be the baby's. The only reason I could think of is if you had twins and lost one very early on. The risks associated with amnios now are very low and I think it's worth it to find out exactly what is going on. Hope you get your answers soon!

ainverso · September 2015

I am sorry you are going through this. It seems weird that the NIPT was wrong? Did they say it is possible that baby is a boy but has smaller genitals or what was their explaination?

Mommyduclos · September 2015

Oh gosh I would talk to the Dr about this one. My personal thinking with amnios (though I've never been in a position where I needed one) is that if the result will change prenatal care/ delivery to improve the situation for me and my baby then great I would do it, but if it is something that wouldn't change anything and could be persued further after birth I might go that route to avoid unnecessary risk (though it does seem small) it is possible you had a vanishing twin, there could be a genetic issue, or maybe the u/s is just wrong???? But that's the main thing I would address- what issues are they looking for and would it be beneficial to know before birth or would it be the same to run more tests after birth.

chopsnoni · September 2015

thanks ladies. The NIPT test is relatively new here (Aus) and the ultrasound place has never had this happen before so they are trying to work it out. 3 docs have looked over the ultrasound and are apparently convinced it looks like a girl so they are more worried about the rogue Y chromosome than missing the penis/testes. they also mentioned it could be a Y chromosome issue with me (which is a strange idea to think about!) but unlikely as it would make it hard for me to get pregnant in most cases. Fingers crossed I find out more tomorrow, I'm leaning towards doing the amnio even through I hate the idea of how invasive it is...

ChrissyD1203 · September 2015

I think @Mommyduclos gave some great advice.

Kelley421 · September 2015

I read another story about this happening, with verifi test. This lady had a loss at 14w last year and it was a boy, so most likely it picked up a bit of left over from previous pregnancy.
The lab graded the results for Y as "very weak" all the way to "very strong". Hers was very weak, and she is definitely having a girl.
Hoping everything turns out fine for you!

claireloSC · September 2015

This could be a couple things, but I think ultimately the important thing to remember is all situations you will still have a healthy baby. This is not to make light of your situation, but to offer comfort.

Either your baby has x/y chromosomes but female sex organs, you do, or there is genetic material from a vanished twin or previous miscarriage. Once Y result could be a lab mistake, but I think two probably means it is right. Even though the first possibility isn't really ideal, I would try not to worry too much until your doctors can confirm that. In some cases, it might not be possible to get all the information until your baby is born. In the unlikely event that is the issue, I would suggest researching intersex issues before your baby is born so you know how you want to proceed. This is a good perspective: https://www.buzzfeed.com/azeenghorayshi/born-in-between. This is good information too: https://www.newscientist.com/article/dn16934-girl-with-y-chromosome-sheds-light-on-maleness/

This isn't a very likely scenario but I wanted to provide the info in case it was helpful. Intersex births aren't very common, so there's a low chance of this: https://www.isna.org/faq/frequency From what I've heard from intersex people, the hardest part for them is that their parents typically only found out they were intersex at birth, and then made a quick decision to have surgery. Until recently, that was the standard of care. Now many parents wait to see what their child's preference is as they get older and this is generally what most intersex adults advocate for. If this were to be the case for your baby, I think you'll have an advantage having the information ahead of time so you can make an educated decision about the best route for your family.

That all being said, I hope it's just a something like a vanished twin that won't cause any concerns or hardships for your family, and I think that's probably the most likely scenario. Good luck and keep us updated.

chopsnoni · September 2015

Thanks so much @Mummyduclos and @claireloSC this does give me some good points to think over. I've done some research too and found quite a few cases where this has happened and the mums have ended up having perfectly normal little girls (proving the NIPT test was wrong or picking up something else) so I'm hoping this is the case with us too.

I've thought through the more complex intersex situation too and although it is could be the worst case result, as said above, its not a terrible outcome and still means a healthy and hopefully happy child.

Fingers crossed we get some kind of clarification - thanks so much for the support!

claireloSC · September 2015

Glad the info helped! Keep us posted!

Blueyedsky · September 2015

I wouldn't get an amnio, but if have the baby genetically tested after birth. Even if it's a sex disorder, there's not anything you can do about it and it won't add complications to the birth, but that would be important to know for your babys life in general. There are hard symptoms that come with sex disorders, or if you lost an early twin it could be chimerism, which opens up a lot more things you'd need to deal with.

andreachristine81 · September 2015

cawalp said:
I have never heard of this but the blood tests they do that determine the sex can't be wrong when a Y chromosome shows up. If it said a girl and turned out to be a boy, they could have just missed the Y but if they found the Y, it's definitely not yours so it has to be the baby's. The only reason I could think of is if you had twins and lost one very early on. The risks associated with amnios now are very low and I think it's worth it to find out exactly what is going on. Hope you get your answers soon!

This. That's exactly what I was thinking... I had a case of vanishing twin and was warned of this exact scenario... I didn't do the early NIPT test... I personally wouldn't risk an amnio unless you think that there are chromosomal issues with your baby that an "off" anatomy scan gave any warning to...

chopsnoni · September 2015

Just to update... I did go for the consult with the genetic specialist yesterday (after another ultrasound done which clearly showed a little girl) and was of the mindset that I wouldn't have the amnio and would just get the full genetic testing / karyotype done at birth.

However discussing possible outcomes that could cause this situation (and one of them being a few rare micro-deletion / micro-duplication issues with chromosomes that can result in a heavily handicapped child) I broke down a little and went ahead with it.

The amnio wasn't pleasant but its done now and we just have to wait 7 days for the results. Thanks for your help and support, fingers crossed for the news of a perfectly healthy little girl.

Latina211508 · September 2015

Wishing you the best and that baby is healthy!

Krisdee123 · September 2015

All the best to you and your family. I will have you in my thoughts, and really hoping you are able to find some peace from the results.

andreachristine81 · September 2015

Please keep us updated! Hoping for happy results of a healthy baby girl

!! I personally know how agonizing those seven days can be... Hang in there!

MrsB915 · September 2015

I'm glad the amino went well, that can be kinda scary. Hopefully the next week gois by quickly for you and you get comforting news. I wish you the best!

Hrc724 · September 2015

Thinking of you and hoping for a speedy 7 days so you can get answers. PS, I would have done the amnio too.

claireloSC · September 2015

I would have done amnio also. The risk of miscarriage is actually pretty low nowadays and especially this late in pregnancy. Thinking good thoughts for your little one! Let us know what they say next week.

SamAdams2006 · September 2015

Hope you get good news this week!

EC2016 · September 2015

Any updates?

MaeHunter · September 2015

Hi! We just went through a similar situation as this and I thought I'd share in case it might be helpful! We did a third-party free-cell DNA test early on in the pregnancy and they too detected a y chromosome and told us we were having a little boy. Then at our 20 week ultrasound our doctor confirmed that it is a girl. We then followed up with a partial-cell free-cell DNA test from another outside clinic and they confirmed that we are indeed having a little girl. What we were told caused the discrepancy in our case is that the free cell DNA technology is relatively new and they are still working out the kinks. Some labs still use full-cell DNA (where they isolate full cells in the mother's blood that do not match the mother's DNA and analyze those). Recently, they have discovered, however, that full cells do not degrade very rapidly (indeed, they think it is possible that you keep some of your babies' full cells in your blood for your entire life). But partial, or broken, cells degrade very quickly, so now they use those in the free cell DNA technology because they can be relatively sure that these actually come from the baby you are presently carrying. Anyhoo, in our case, I had a miscarriage at 11 weeks in January and so the doctors think that in initially analyzing the full cells' DNA, they were picking up the prior baby's DNA, and that must have been a little boy. But when they went back and isolated only the partial cell DNA, it is definitely a little girl. If there is any chance that you may have been pregnant before, you may want to look into this as a possible cause of the discrepancy reported in your case, too. But the amnio should give you clarity either way. Hope that helps!

chopsnoni · September 2015

Hi @MaeHunter, wow thats super interesting, and I think is similar to what happened to us.

I did have a miscarriage in December, and although my doctors think that is far enough back that it wouldn't affect the outcome of the NIPT testing, I've read otherwise so I'm not sure they are right.

Either way, we have had a XX confirmed by amnio results (as well as ruling out the other chromosomal issues that were brought up).

Crazy! thanks for replying, its nice to know someone else has been through this

claireloSC · September 2015

Good news! Glad they confirmed your baby is ok!

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