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Preconception Testing

Preconception Testing at Ovation Fertility Austin

Individuals or couples planning a pregnancy should consider preconception genetic testing, also known as preconception carrier screening. Ovation Fertility Austin works with fertility specialists and obgyn practices to enable couples to determine whether or not they are carriers of many known genetic conditions prior to conception. Pre-conception testing empowers potential parents with answers to these life-changing questions:

  • Am I a genetic disease carrier?
  • What are the chances that my child will have a genetic disease?
  • What fertility treatment options do I have if I test positive?

A genetic disease carrier frequently does not exhibit any symptoms, as only one of their two genes coding for a specific disease is abnormal. The disease lies dormant in the genetic code until two carriers reproduce. They then have a one in four chance of having a child with two copies of the defect, and thus the disease.

When preconception testing reveals that both the mother and father carry a genetic defect:

  • There is a 1 in 4 chance that the child will inherit two copies of the gene and thus have the active form of the disease.
  • There is a 1 in 2 chance that the child will inherit one copy of the gene and be an asymptomatic carrier, like each parent.
  • There is a 1 in 4 chance that the child will not inherit either copy of the gene. In this case, the disease is eliminated from this child’s future family forever.

 

Genetic Diseases Commonly Screened for with Preconception Testing

Sickle Cell Anemia is a blood disorder that causes the production of an abnormal type of hemoglobin – the molecule in red blood cells that carries oxygen. Under certain conditions, such as infection, stress, or being at high altitude, this abnormality causes the red blood cells to change their shape. When this happens, the red cells can obstruct small blood vessels leading to blood clots or damage to the organs those cells feed. Approximately 1:500 African American children born in the United States have sickle cell disease and at least 2.5 million Americans have sickle cell trait (ie. they are carriers of one abnormal sickle cell gene).


Cystic Fibrosis (CF) is one of the most common genetic disorders in the US; approximately 1:25 citizens are carriers of an abnormal gene. Individuals of European heritage are most commonly affected. After birth, children with CF usually produce thick lung secretions that can lead to debilitating respiratory illnesses, as well as problems with their pancreas, liver, or kidneys. Individuals with CF have shortened lifespans, all to often dying by age 40. There is no cure for CF, although several recent discoveries hold promise for long term therapy and perhaps further increasing the lifespan of affected individuals.


Tay Sachs is a rapidly progressive disease that leads to deterioration of nerve cell function, as well as severe mental and physical disability. The disease typically presents around six months of age and usually results in death by age 4. Ethnic groups most commonly affected include Ashkenazi Jews, French Canadians, and members of the Cajun population of southern Louisiana. The disease results from a lack of a specific enzyme called Hexosaminidase A. Without this enzyme, lipids build up in the brain, leading to rapid deterioration and eventual death. There is no known treatment or cure for Tay Sachs disease. Fortunately, early testing has lead to a 90% reduction in the number of affected children born to Ashkenazi Jews, making Tay Sachs one of the best examples of the value of preconceptual genetic testing.

Congratulations on your decision to take proactive steps to safeguard the health of your family. A simple blood test can provide essential information that our Ovation Fertility Austin embryologists can use to protect the next generation of your family.  Contact us here to learn more about preimplantation genetic testing after screening for inheritable genetic diseases.

 

Who Needs Genetic Testing?>>

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