Genetic Testing Before Pregnancy
Pre-Pregnancy Family Planning Advice

Making an appointment for genetic counseling

Genetic Testing Before Pregnancy

Contents

• Genetic Testing Before Pregnancy
• Do I Need Counseling?
• What Happens When I See A Counselor?
• What Are Our Options If We Test 'High-Risk'?

Guide To Gene Tests
For an overview, see:
Genetic Testing

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.

Most couples are referred to a counselor by a doctor or midwife. They may be referred because of a family history of genetic disorders. Or because of difficulties in getting pregnant or because they have had several miscarriages or suffered a sudden infant death. Other women visit genetic counselors because of the result of prenatal tests (such as an amniocentesis) or because of their advanced age. Another reason is because they are worried about past exposure to environmental factors like excessive x-rays, drug use or chemical contact.

Because of the high costs of genetic screening it is only usually offered to potential parents with known risk factors. Ideally it is best to visit a counselor before pregnancy. However, it is not too late when pregnant (see genetic testing during pregnancy). If testing uncovers a serious defect in a fetus, the counselor will advise a couple on all their options and help them decide how to proceed. Genetic counseling has helped countless high-risk couples avoid the heart break of giving birth to children with serious problems, while realizing their dream of having completely healthy babies.

Do I Need Genetic Counseling?

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.
2. You are hoping for a pregnancy after 35. A woman has a 1 in 400 chance of conceiving a child with Down syndrome at age 35 and 1 in 100 chances at age 40.
3. If you have experienced more than 3 miscarriages or other previous pregnancy problems.
4. If one of the parents has a congenital defect, such as heart disease.
5. If the couple are closely related. The chance of inherited diseases in offspring of first cousins for example is 1 in 9.

What Happens When I See A Counselor?

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.
2. Identify potential risks depending on your ethnic background, age and environmental exposure.
3. Identify appropriate genetic tests to have carried out - and will arrange those tests.
4. Evaluate the results of those tests with you when the paperwork returns.
5. Help parents decide what to do next.

What Are Our Options If We Test 'High-Risk'?

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.
2. Sperm or Donor Eggs: Or assisted reproductive technology (ART). This avoids the issue of passing genetic dysfunctional material to your child.
3. Adoption.
4.Having a child, despite the risks. A prenatal care guide will be essential tool in improving the chances of having a healthy baby.
5. Pregnancy, then taking a prenatal genetic test. Ending the pregnancy if birth defects are detected.
6. Fetal Surgery: Some defects can be part repaired before birth.

Finding a Genetic Counselor

You can contact the National Society of Genetic Counselors for more information and a list of counselors:
http://www.nsgc.org/

Related Articles on GENETIC COUNSELING

For more about tests while pregnant, see the following:
• Paternity Testing and Paternity Testing Research
• Chorionic Villus Sampling Test
• Sibling DNA Tests & Ancestry Gene Tests
• Grandparent DNA Testing & Twin DNA Testing

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