Pre-Conception Genetic Testing (Part 2)

The results are in! After a short wait, we received a 7-page report detailing C's genetic testing results (see part 1 here).

Here's a copy of one page of the report we received with identifying information redacted:

You can see under "clinical notes" that we requested the screen because C's family has a known history of Tay-Sachs. C ended up not being a carrier of Tay-Sachs, but is a carrier for 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia.

The recessive trait C carries is the "non-classic" type, which is the least severe genetic strain. Affected children would produce excess androgen, which may put them at risk of decreased fertility (and this would only be the case if A also carries the exact same strain, which is rare). This disease does not have major health implications and is non-fatal. Therefore, we would not seek the cost of pre-implantation testing and IVF to avoid the possibility of children inheriting this trait -- a choice we would have made if we were both carriers of diseases with high risk of morbidity and mortality, such as Tay Sachs or Cystic Fibrosis.

We were very interested to read all of the disorders C was actually tested for. Targeted DNA mutation analysis was used to simultaneously determine the genotype of 394 variants associated with 100 diseases.

In terms of next steps, this test basically served as a "green light" to conceive when we are ready. We both feel relieved and very grateful that C is not a carrier for a fatal genetic disease.

Based on our experience with JScreen, we highly recommend them for pre-conception genetic testing!