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!

Eating Healthy, Easy Recipe

As we are beginning to plan improving our health prior to pregnancy, we are looking to increase easy and healthy options we are eating. This one is great because all of the ingredients are fresh and healthy, including the pasta (it's whole-wheat!). Plus, this recipe is so quick to throw together -- eating healthy is definitely easier when it is fast.

Ingredients:

13 oz. Whole-wheat spaghetti

10oz. Grape or cherry tomatoes 

1 Thinly-sliced white onion

3 Garlic cloves, thinly sliced

1/2 tsp. Red-pepper flakes

4 Fresh basil leaves, chopped

2 T Extra-virgin olive oil

1 teaspoon Sea salt

1/4 teaspoon Black pepper

5 cups Water

Parmesan cheese

1. Use a large, straight-sided skillet with room to hold the liquid for this recipe. Combine spaghetti, tomatoes, onion, garlic, red-pepper flakes, basil, oil, salt, pepper and water. Turn on high heat and bring the pot to a boil. Remember to stir this mixture frequently, as the spaghetti will quickly stick to the bottom of the pan on high heat. Boil for approximately 9 minutes, until the water is mostly evaporated and the spaghetti is cooked. 

2. Serve immediately in bowls. Top with parmesan cheese.

That's it! 

We also recommend adding chopped mushrooms or bell peppers to add even more texture and flavor. Try it out and comment to let us know what you thought!

Pre-Conception Genetic Testing (Part 1)

We have known since the time we were first married that we would be seeking pre-conception genetic testing. C's family has a history of carrying Tay Sachs Disease. Due to his Ashkenazi (eastern and central European) Jewish heritage, we knew that this increases the risk that he carries several recessive genetic disorders in addition to Tay Sachs, including Cystic Fibrosis (1 in 24 Ashkenazi Jews carries this recessive trait), Gaucher Disease (1 in 15), and Niemann-Pick (1 in 115). 

As we began our journey to prepare for pregnancy, we researched different options for completing the process for completing this genetic testing. We learned that for insurance to cover it, C would be tested first. If his test reveals that he is a carrier of any recessive genetic disease, A will then complete her own test to see if she also carries the trait.
We chose to go through the company JScreen for the pre-conception testing. Our kit arrived just a few days ago -- we took a few pictures so you could see what the kit looks like:

The tube in the picture here is for saliva collection. Once filled with saliva, the top of the cap has a solution to stabilize the saliva for shipping (this is released when the tube is sealed).

Here is a close-up of the instructions on the lid of the box.

We received confirmation that C's saliva sample was received by the lab this week. JScreen then sent him a "quiz" to make sure he understands the basics about recessive traits in case anything comes up positive. If any of the diseases are positive in his panel, we also have to meet with a genetic counselor.

Watch for Part 2 once we receive the results!