Do I Need Genetic Testing?

• Review your family and medical history.     • A blood test can detect possible problems that can affect your pregnancy.     • Certain ethnic groups have a higher risk for certain disease.     • Diagnostic tests address potential risk factors.

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hile genetic testing isn’t mandatory, it’s an option that more and more couples are adding to their pre-conception ‘“to do” list. If you and your partner have not yet discussed your thoughts on this topic, you might want to make sure you are both on the same page.

Here is a rundown of what you can expect:

REVIEW OF FAMILY & MEDICAL HISTORY
SCREENING TESTS
DIAGNOSTIC TESTING

REVIEW OF FAMILY & MEDICAL HISTORY
You will probably discuss your family history with your obstetrician. 

When reviewing your family history, you will likely be asked the following:

 About yourself:

• If you are over 35
• If you have (or have had) a child with a birth defect, inherited disease, or genetic disorder
• If you are diabetic
• If you have suffered several miscarriages or a stillborn death
• If you are regularly exposed to chemicals or other dangerous environmental factors

About your family:

• If chromosomal problems are in your family history
• If anyone in your family has mental retardation
• If anyone in your family has Tay-Sachs, thalassemia, sickle-cell anemia, hemophilia, cystic fibrosis, fragile X syndrome, or any other inherited disease

The following will also be taken into account:

• Your ethnic background (some diseases are more predominant in certain ethnicities - see chart below)

IF THE ETHNICITY OF BOTH PARENTS IS:		THE RISK FACTOR IS HIGHER FOR:
African American		Sickle Cell Anemia
Askenazi Jews		Tay-Sachs, Canavan Disease, Cystic Fibrosis (along with 7 other diseases - including Familial Dysautonomia - that are now part of an “‘Ashkenazi Jewish Genetic Panel”)
Mediterranean and Asian		Thalassemia

Your doctor can then assess which tests would be applicable to your particular medical and family history and whether or not it would be valuable for you to visit with a genetic counselor. With tests available for hundreds of genetic disorders, it would be impossible (not to mention expensive) to run each and every one on every woman who is planning on becoming pregnant.

SCREENING TESTS
Certain screening tests are offered to all women, regardless of age, ethnicity, or family history. A simple blood test is performed in order to detect the possibility of problems that could affect your pregnancy. You will likely be tested for your immunity to a number of diseases (like Rubella, aka German measles, and toxoplasmosis, aka ‘“kitty litter disease”), as well as have ‘“Carrier Screening” performed. Inherited diseases, like cystic fibrosis, are only passed down to a child if one or both parents are carriers. Unfortunately, carrier screening is not 100% effective and it is possible to have a negative result but still be a carrier.

If you are part of an ethnic group that is at higher risk for certain diseases, you should also run the test (or panel) for those risk factors.

At this point, you will move onto one of the following steps:

• Trying to conceive (if both you and your doctor – or counselor – are comfortable with the results)
• Get any needed immunizations, wait the suggested waiting period, and then try to conceive
• Have diagnostic testing done

DIAGNOSTIC TESTING
If your doctor – or counselor – is still concerned about potential risk factors, s/he might want to run some diagnostic tests.

Or, if the carrier screening tests showed that you are a carrier for any potentially harmful diseases, you will probably want your partner to be tested as well. Some diseases need both parents to be carriers in order to be passed along.

Genetic testing can put your mind at ease, or help you to make informed choices during your pregnancy. Of course, it is a personal choice and;  one that you should discuss with your partner and your doctor.

This article was compiled using information from the following sites:

Mayo Clinic
LabCorp
What To Expect
University of Michigan Health System
March of Dimes