Genetic Testing Prior to Conception
Carrier Testing Provides Information to Help Avoid Devastating Diseases such as Cystic Fibrosis
More than 10 million Americans are healthy, symptomless carriers of the inheritable disease cystic fibrosis. When two carriers conceive, there is a 25% chance the baby will have CF.
CF affects the lungs, pancreas and digestive system, causing mucous and other body secretions to be thick and sticky.
There is no cure for CF, which currently has a life expectancy of approximately 40 years.
Prior to treatment, your Tulsa Fertility Center physician will review your health history and provide a recommendation for achieving a successful pregnancy outcome. As part of our proactive approach, we may recommend genetic testing during your initial fertility workup. Known as preconception testing, the data compiled is based on a search for alterations and abnormalities in a person’s genes. These are the traits that you “pass down” to your children.
Advances in genetic testing make it possible to proceed to conception with confidence. A simple blood test or cheek swab will help us take preventative steps when abnormalities appear in the results.
Your Tulsa fertility specialist will explain how IVF lab techniques can help you avoid passing along an inheritable genetic disease like cystic fibrosis to your baby. Read more about preimplantation genetic diagnosis here.
Searching for Mutations with Genetic Testing
An inheritable disorder, or autosomal recessive disorder, means that one of a person’s genes is altered. A person has 23 chromosomes, but one is the X or Y chromosome, which determines whether you are a female or a male. Preconception genetic testing confirms whether a person has an altered, or mutated, gene inside those chromosomes.
Why is it so important to know your carrier status?
When two people are carriers of a genetic disorder and conceive a child together, their offspring has a 1 in 4 chance of having the active disease. Again, gene disorders run in families.
At Tulsa Fertility Center, we conduct responsible carrier testing, meaning that we focus on genetic history, ethnic background and statistical risk:
- Cystic Fibrosis
- Canavan Disease
- Familial Dysautonomia
- Tay-Sachs Disease
- Bloom Syndrome
- Fanconi Anemia Type C
- Gaucher Disease
- Mucolipidosis, Type IV
- Niemann-Pick Disease Type A
- Glycogen Storage Disease Type 1
- Sickle Cell Anemia
- Fragile X Syndrome
- Spinal Muscular Atrophy
Who Benefits from Genetic Testing?
You may have a family history of inheritable genetic disease, or simply fall into an at-risk population:
- African American
- Caucasian (risk for CF)
- Far East Asian
- Jewish women of European descent
However, every person has at least some risk for recessive genetic disease. Talk with your fertility specialist if you feel you would benefit from genetic testing.
IVF Lab Techniques Protect the Next Generation
When your genetic testing is positive for autosomal disease, we offer hope and a practical plan for conception. At Tulsa Fertility Center, we deliver leading edge IVF lab services to address inheritable genetic disease. With preimplantation genetic diagnosis, or PGD, we can identify embryos unaffected by genetic disease for transfer in an IVF cycle.
With PGD, the IVF cycle proceeds as usual through egg retrieval and fertilization. At this point, on Day 5 or 6, we schedule a PGD biopsy in the IVF lab. A highly skilled embryologist removes cells for testing, and quickly reports results. Your fertility specialist will then transfer healthy embryos back into the mother’s uterus. PGD benefits couples with a history of failed IVF cycles, recurrent miscarriage and advanced maternal age.
Contact us at Tulsa Fertility Center to learn more about genetic testing, the relatively affordable option that helps provide peace of mind prior to getting pregnant.