Genetic Testing Before Pregnancy
Guide To Gene Tests
|Genetic Testing Before Pregnancy
Genetic counselors are healthcare specialists who advise couples on their odds of having a healthy child based on the results of genetic tests. Armed with this information, the couple can then decide if they wish to proceed with trying for children. Most counselors work in hospitals and some are specialized in areas such as cardiology, pediatrics, neurology or oncology. Some even provide their services via phone, video-conferencing and email.
Nearly all of us, in the general population, carry one gene of a genetic disorder. Fortunately, as most congenital defects require two matching pairs of genes, one from each parent, they are not likely to show up in our off-spring. A couple can check for their genetic 'compatibility' before becoming parents. However, this usually makes more sense when one of the couple is aware of a possible disorder within their family medical history. The clue is usually geographical or ethnical. For example, it is recommended that Caucasians be tested for Cystic Fibrosis, as 1 in 25 Caucasians of European descent are carriers of the gene. Jews of Eastern European descent should be tested for Tays Sachs and Canavan disease (also called Canavan-Van Bogaert-Bertrand disease), as should French Canadians and Louisiana Cajuns. Black couples should test for Sickle Cell Anemia and those of Asian and Mediterranean ancestry should test for Thalassaemia. In most cases, the test of one potential parent is all that is necessary. Only if the test is positive, is testing of the other necessary.
Other Reasons why your OB/GYN may refer you to a genetic counselor include:
1. If you already have a child with a birth defect, including less serious defects such as cleft palate.
A counseling session can be held one-to-one, with a couple, or even the whole family. Several sessions are usually required and the counselor will want to:
1. Take a complete overview of your personal and family medical history. So do be sure to bring whatever medical records you have.
What are your options if as you prove high-risk for having a child with a severe birth defect? Your options might include:
1. Pre-implantation Diagnosis: Also known as embryo screening. Refers to procedures which are performed on embryos prior to implantation. This makes it more probable that a baby will be free of the genetic disorder under consideration.
Finding a Genetic Counselor
You can contact the National Society of Genetic Counselors for more information and a list of counselors:
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For more about tests while pregnant, see the following:
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