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 or problems with previous pregnancies. The best time to have genetic screening is before a pregnancy, but it can also be done at specific time points during a pregnancy.
There are 2 general types of genetic screening. Testing for a specific gene can be done when an inherited disorder runs in the family or a specific disorder is suspected. A screen for many genetic defects can be done when there are non-specific findings.
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 healthcare provider may recommend genetic screening:
Conditions that your healthcare provider may screen for include:
You should find out about the medical history of your family, including hereditary diseases in your mother 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 healthcare provider 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. The family history may help determine which genetic tests will be needed.
Examples of genetic screening tests given during pregnancy include:
After the screening and tests, your healthcare provider 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 healthcare provider 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—Department of Health and Human Services
Society of Obstetricians and Gynaecologists of Canada
Women's Health Matters
Genetic counseling. American Pregnancy Association website. Available at: http://americanpregnancy.org/getting-pregnant/genetic-counseling. Updated September 2, 2016. Accessed October 25, 2016.
Routine prenatal care. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Updated June 22, 2016. Accessed October 25, 2016.
Routine tests in pregnancy. American Congress of Obstetricians and Gynecologists website. Available at: http://www.acog.org/~/media/For%20Patients/faq133.pdf?dmc=1&ts=20121217T1134335563. Updated January 2016. Accessed October 25, 2016.
Screening for birth defects. American Congress of Obstetricians and Gynecologists website. Available at: http://www.acog.org/~/media/For%20Patients/faq165.pdf?dmc=1&ts=20121217T1134388121. Updated September 2016. Accessed October 25, 2016.
Last reviewed October 2015 by Michael Woods, 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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