Genetic screening is a process used to determine a child's risk of inheriting certain diseases or birth defects from his or her parents. Couples planning to have a baby might be concerned about illnesses that have occurred in family members. The best time to have a genetic screening done is before you get pregnant, but it can also be done during your first prenatal visit or later in your pregnancy.
There are several tests that look for different genetic disorders.
Keep in mind that genetic testing is not done for every pregnancy. Some have an increased risk of having a child with a genetic condition. Here are some common reasons your doctor may recommend genetic screening :
Conditions that your doctor may screen for include:
You should find out about the medical history of your family, including hereditary diseases in your mother's and father's families. If possible, ask your parents and your partner's parents about any abnormalities, disabilities, or intellectual disability in the family. Make a record of any of the following personal information:
During the genetic screening process, your doctor will ask you and your partner for a detailed family history of diseases, disorders, and birth defects. You may be given blood tests. If you are already pregnant, you might be given tests to examine the chromosomes and condition of the fetus. Examples of genetic screening tests given during pregnancy include:
After the screening and tests, your doctor will discuss the results with you and make recommendations about any treatment that may be beneficial. Treatment is a personal choice that is left entirely up to you. Your doctor should provide you with lots of information about treatment options so that you can make informed choices.
American Congress of Obstetricians and Gynecologists
Women's Health Matters
Genetic Counseling. American Pregnancy Association website. Available at: http://www.americanpregnancy.org/gettingpregnant/geneticcounseling.html. Updated March 2011. Accessed December 17, 2012.
Genetic counseling. March of Dimes website. Available at: http://www.marchofdimes.com/pregnancy/trying_geneticcounseling.html . Updated August 2007. Accessed December 17, 2012.
Routine Tests in Pregnancy. American College of Obstetricians and Gynecologists website. Available at: http://www.acog.org/~/media/For%20Patients/faq133.pdf?dmc=1&ts=20121217T1134335563. Accessed December 17, 2012.
Screening and Monitoring During Pregnancy. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/what. Updated November 28, 2012. Accessed December 17, 2012.
Screening for Birth Defects. American College of Obstetricians and Gynecologists website. Available at: http://www.acog.org/~/media/For%20Patients/faq165.pdf?dmc=1&ts=20121217T1134388121. Accessed December 17, 2012.
Last reviewed December 2012 by Brian Randall, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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