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Abby - October 17th, 2006 5:35 PM

I have a PGD question and am not sure whose board is best suited to answer but would love any insight you can offer.

I am looking for information/opinion about what might happen in an instance when PGD is performed but there is a lab error in the middle of testing one embryo and not all the chromosomes were able to be checked. As it turned out the other embryos tested all had an issue with aneuploidy in one way or another. Therefore the one that was partially tested, but was alright in what was tested, was transfered and has resulted in a pregnency, currently at 6 weeks.

What I am trying to figure out is there any information on what possible outcomes might be in store if there is an issue with one of the chromosomes they did not get to test. The ones that didn't get tested were 14, 15, and 17 - so what I have been looking for is something on-line that says -- if in fact there was trisomy for 14, 15 or 17 that would mean one is likely to have a m/c by week X.

I am trying to see if there is some point after which it might mean we are a more or less out of the woods for an issue with those chromosomes. As I understand it, embryos with monosomy can rarely even implant, and the vast majority of trisomies don't implant or miscarry so I am trying to be hopeful that if things have progressed this far that that should offer hope that this embryo was also alright even in those chromosomes not looked at and that the pregnancy will progress. Can you offer any insight or opinions? Can you point me in the dirsection of anything on the web where I might research this further? Thanks so much for your assistance

Dr Smith - October 18th, 2006 1:43 PM

It is not unsual for an embryo to have an "inconclusive" result from PGD. The technology is not perfect. Approximately 10% of the results are inconclusive. It wasn't a "lab error" per se, it was the limits of the current technology for embryo testing. To put this in perspective, we are talking about the genetic analysis of a single embryonic cell here. There's lots of room for things to go wrong.

As you probably found out in your research, monosomies and trisomies for 14, 15 and 17 are rare and it unlikely that the "inconclusive" embryo was abnormal.

With the notable exception of trisomy 21, most anueploidies result in miscarriage before 12 weeks. So, for the most part, you will be out of the woods after 12 weeks. CVS and amniocentesis can be performed around that time to confirm euploidy.

Best of luck.

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