For many hopeful parents, the idea of genetic testing is a new and unfamiliar experience. Simply put, genetic testing looks at parental and fetal DNA, the blueprint in almost every cell that directs how our bodies grow, develop, and function. Genetic tests can sometimes identify changes that may increase the chance of a baby being born with certain health conditions. Clear, compassionate information can offer you an overview of your genetic profile and potential inherited risk factors.
Considering Genetic Testing Before Pregnancy
Some people consider genetic testing before pregnancy, often called carrier screening. A “carrier” is someone who has a gene change for a condition but does not have the condition themselves.
Carrier screening can be especially helpful if:
- There is a known genetic condition in your family
- Both partners share a background linked to certain inherited conditions
- You want more information before trying to conceive
If both parents carry the same genetic condition, there may be a higher chance their baby could be affected.
Exploring Testing During Pregnancy
If you are already pregnant, questions about testing can sometimes arise during routine prenatal care, often after a standard ultrasound or blood test.
During pregnancy, there are two main types of genetic tests:
- Screening tests – These tests help estimate the chance of certain chromosomal conditions. They do not provide a definite answer, but they can indicate whether additional evaluation may be worth considering.
- Diagnostic tests – These are more in-depth tests that may provide clearer answers by looking more closely at DNA.
How Genetic Testing Is Done
Genetic testing can involve different types of samples depending on the test and timing:
- Saliva or cheek swab – Sometimes used for carrier screening before pregnancy, this is a noninvasive way to collect DNA.
- Blood sample – A small sample of parental blood can be used for carrier screening before pregnancy and for noninvasive testing during pregnancy. DNA in the sample is analyzed to detect gene changes or small fragments of fetal DNA in the parent’s blood.
- Amniotic fluid (amniocentesis) – This diagnostic test analyzes fetal cells for definitive genetic information by extracting a small amount of fluid from around the baby during pregnancy.
- Placental tissue (chorionic villus sampling, CVS) – Collected early in pregnancy, this test examines fetal cells from the placenta for specific diagnostic genetic results.
Families may consider these tests if an ultrasound shows something unexpected, if there is a known family history of a condition, or if they would like more detailed information.
Informed, Supported, and Empowered
As you consider genetic testing, gentle, open conversations can make a meaningful difference. Try talking with your partner and close family members about your hopes, concerns, and what information would feel comforting to you. You might ask relatives about any known health conditions in your family history to help inform discussions with your provider.
When you meet with your healthcare professional or a genetic counselor, bring your questions and be honest about what matters most to you. It’s okay to take time, to ask for clarification, and to reflect before testing. Your choice should be informed, supported, and aligned with your values as you move forward into parenthood.
Medically reviewed by:
UC Davis Medical Center Prenatal Diagnosis Center
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