Are You a Carrier of a Genetic Disease?

January 10, 2012

Blog written by Farifax Cryobank Genetic Counselor Suzanne Seitz, MS

A client I spoke to recently found out that she was a carrier for a genetic disease. Her doctor was doing the routine screen as part of her pre-pregnancy work-up. She was certainly surprised by the result as she had no family history of the disease. Recessive diseases are often like that, hidden from view until they pop up suddenly. Luckily for her she knew about it ahead of time and could make sure that the biological father was tested. If he was negative, the risk for her child would be greatly reduced and as close to zero as possible. Being a single woman, she planned to use a sperm donor.

We worked through a selection process where she used a donor that could be tested easily and still had plenty of units available. We were able to test one of the donors on her top 3 list. When the results came back negative, she quickly purchased the units she needed and had her procedure.

Although she was initially worried and confused by this added burden to getting pregnant, her relief was significant. Since we all carry some mutations for genetic diseases (it is believed everyone carries between 5-7 recessive genes), we could find ourselves in this situation too. Routine genetic screening does pick up carriers for the most common diseases found in all ethnic groups like cystic fibrosis and spinal muscular atrophy. Or your back ground could make testing certain disease more relevant. African Americans should be tested for sickle cell disease; those of Mediterranean and Asian descent should be tested for thalassemia and Jewish individuals should have an entire panel of disease tested.

And for those that find they are carriers of a genetic disease, we will certainly work with them to find the right donor match. It makes the road to having a healthy baby a bit longer, but it is well worth the detour!

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