expanded carrier screening

I have the results back from the expanded carrier screening. I was screened for 84 conditions. Most of these conditions are recessive, which means that both my husband and I would have to be carriers for there to be increased risk to a future pregnancy. It shows that I am a carrier for one condition called "Rhizomelic Chondrodysplasia Punctata Type 1." Me being a carrier for this condition has NO impact on my own personal health. The next step would be to screen my husband. If he is a carrier for this condition as well, then there is a 25% chance a child would be affected. If he is not found to be a carrier, risk for an affected child is drastically reduced. Even now, without knowing whether or not he is a carrier too, there is a 1 in 630 chance to have an affected child. This is less than 1%. If we are both carriers we can discuss testing that can be done on embryos before implantation, or could consider CVS or amniocentesis for testing during pregnancy.

Babies who have Rhizomelic Chondrodysplasia Punctata Type 1 are small and have bone problems, intellectual disability, and eye problems. Most will pass away in childhood.

Oh, this is completely unrelated to CHARGE Syndrome.