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Pre-Conception Genetic Screening Recommended for All Patients

The goal of our practice is to ensure that you receive optimal care and attention to improve your chances of having a healthy pregnancy and a healthy child.

An important part of family planning is being informed about your testing options. One of these options is genetic carrier screening which helps you understand your risk of having a child with a severe or life threatening genetic disease. Some of these diseases can also significantly impair a child’s normal development. For some of these conditions, early treatment can improve pregnancy outcomes.

The American College of Obstetrics & Gynecology (ACOG) and American College of Medical Genetics (ACMG) recommends genetic screening for genetic disorders for couples planning to conceive.  Good Start Genetics (GSG) offers a panel of tests recommended by both ACOG and ACMG that tests for 23 (GeneVu) of the most common and/or severe conditions.  If there is a family history of a specific condition, it may be necessary to request a further expanded panel that is also offered by GSG. Please notify your fertility provider.

Genetic Screening is performed by testing a blood sample to see if a person is a carrier for a specific genetic disorder. For a couple planning a pregnancy, the mother is tested first and if she is found to be a carrier of a specific mutation, then the father is tested to see if he is also a carrier of the same mutation. The blood sample is drawn in our office and then sent to GSG.  

If you and your partner are carriers for the same disease, your child has a 1 in 4 (25%) chance of having that disease. If you are found to have a high reproductive risk, you have options. You may decide to have Preimplantation Genetic Diagnosis (PGD), a pre-pregnancy process that significantly reduces the risk of a child inheriting a genetic disease or undergo testing during your pregnancy to make informed decisions. Even if you do not choose any of these options, you can use the information to prepare for the birth of a child with a genetic disorder.  Genetic counseling is available at no charge from GSG.  Genetic screening reduces your risk of having a child with a genetic disorder but does not eliminate it. Please feel free to go to our website to learn more  www.gsgenetics.com.