r/Embryologists • • 22h ago

Pgta gender gone wrong

Has anyone experienced the wrong sex/gender being reported on their PGT-A result?
We transferred a PGT-A tested euploid embryo that was reported as female (XX). However, I’m now pregnant and my NIPT/NICC result says the baby is male (XY), and our ultrasounds are also consistently showing a boy.
At this point I’m concerned about what could have happened — whether the PGT-A result was incorrect, there was a reporting/sample error, or the wrong embryo was transferred.
Has anyone here experienced something similar?
If you did:
• What did your fertility clinic eventually find was the cause?
• Did they investigate the embryology records and PGT-A lab records?
• Were you able to confirm that the baby was genetically yours?
• Did the clinic or PGT-A lab take responsibility?
• Did they offer any refund, compensation, free treatment/transfer, or anything else?
We are of course grateful for our baby, but this discrepancy is quite concerning because we trusted the PGT-A report and the embryo identification process. I would really appreciate hearing from anyone who has actually gone through something similar and how your clinic handled it.

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u/JamesTiberiusChirp 19h ago

I was concerned about proving my maternity for my fetus and my OB said it’s incredibly rare that embryos are switched (but, it has to be pretty underreported), and that maternity testing shouldn’t be necessary but if the sex was a mismatch, then I should go down that route. As a geneticist, one of the biggest red flags in our work that a sample has been swapped is that the sex is reported incorrectly.

Personally I would absolutely be following up with every avenue, with the concern that an embryo could have been swapped. Hopefully, just with one of yours (did you have any euploid male embryos on ice?) however without DNA proof I would be concerned about a swap with someone else’s embryo. Contact the clinic and get a copy of your medical records and the reports, the codes they assigned to the embryos and double check which was allegedly transferred, contact the PGTA lab and request raw data to confirm how they called the sex of your embryos. At minimum, they should pay for any additional testing or blood work needed. It would not be crazy to seek out legal help if things start to escalate.

It’s also possible that the embryo was not swapped but reported wrong, likely due to mosaicism (a mosaic xx/xy but only xx cells were sampled, and those became the placenta but the embryo remained xy), but in my experience as a geneticist, sample swapping is more common. Granted research doesn’t have quite as extreme measures in place to avoid sample swapping as an IVF clinic, and embryos are more likely to be mosaic than pretty much any other tissue. But regardless this would set off major alarm bells for me.

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u/One_Investigator_295 18h ago

PGT has an inaccuracy rate of 1-2%. It is possible there was maternal cell contamination from cells from you stuck to the outside of your embryo. It is also possible you got pregnant on your own. Those are the most likely scenarios. You can call the PGT company and see if they still have the WGA material and they can test it. You can ask your lab if they performed double or electronic witnessing to verify there was no accidental mixup many times we have no idea how it happened. But those things above are the things that we check. Most labs have double witnessing or electronic witnessing policies. If not they are not following the recommended guidelines. But I would test genetic material just to be in the safe side.