Understanding Fetal Genetic Results obtained after DNC following a miscarriage

[lissy713]

I am wondering if anyone can help explain my CombiSNP Array for Pregnancy Loss Analysis results. I am 30 years old, had a miscarriage (1st pregnancy) at 7 weeks and 2 days, and opted for the genetic testing to be done on the fetus to see if they could determine what went wrong.

My doctor wasn't able to explain the results very well, and there are no genetic counselers in my area.

The results say there was a mosaic deletion of 2q21.1-q22.1, a deletion of 2q37.3, and a mosaic duplication of 11q22.3-q25.

It was recommended that my boyfriend and I have karyotyping done, so we are still waiting on those results. I am hoping in the meantime someone can help explain what the above results could mean though? Has anyone had similar results? It sounded like these specific results could be something the baby inherited (and possible any future babies we try to have may inherit) vs just a fluke thing that happened at conception.

I know we will get more information once our karyotype results come back, but please let me kow if anyone can help me understand what the above results mean.

Thanks!

 

[Sweetkat]

I sorry for your loss. I think normally you need a genetic specialist to explain exactly what the results mean but it looks like partial deletion/ duplication of certain chromosomes. So chromosomal issues. A large percentage of first trimester miscarriages is due to chromosomal issues and the pregnancy wasn't viable.

The karyotyping will show whether it was inherited (and therefore there would be a risk of it happening again if either you or your OH carry the chromosomal mutation) or if it was random.

My last loss was due to Down's and we had to have karyotyping done too, which came back fine - so it was just random and not inherited.

Good luck with the karyotyping

Xxx