Understanding prenatal genetic testing
Genetic testing during pregnancy can explain unexpected ultrasound findings and help families and doctors prepare for future care.
What is prenatal genetic testing?
Prenatal genetic testing looks at your baby’s DNA during pregnancy to understand possible genetic conditions. Your doctor may recommend testing if:
- An ultrasound shows an unexpected finding
- A prenatal screening test raises concerns
- There is a higher-risk pregnancy or family history of a genetic condition
These tests may help explain differences in your baby’s growth or development and provide important information about possible medical needs after birth. Genetic testing does not always provide a clear answer. But for some families, it may help guide next steps, care planning, and conversations with specialists before delivery.
Why is prenatal genetic testing important?
For many families, prenatal genetic testing is about preparation, care planning, and making informed medical decisions before and after birth.
Depending on the situation, testing may help:
- Better understand unexpected ultrasound findings
- Identify conditions that may benefit to in utero therapies and interventions
- Prepare for possible medical needs at and following delivery birth
- Coordinate care with pediatric specialists so support is available immediately after delivery
- Plan for delivery at the right hospital if NICU support could be needed
- Reduce uncertainty and help families know what to expect
Types of prenatal genetic testing
Genetic tests look at genetic information in different ways and can provide different kinds of information. Your healthcare provider may recommend one test or a combination of tests based on your pregnancy, ultrasound findings, or medical history. In some cases, chromosomal microarray is ordered together with exome or genome sequencing to help provide the most complete information possible.
Chromosomal Microarray (CMA)
Chromosomal microarray looks for missing or extra pieces of genetic material that may help explain fetal developmental concerns or certain birth defects identified during pregnancy.
Exome sequencing
Exome sequencing looks at the parts of genes that provide instructions for how the body grows and functions. This type of testing may help identify genetic conditions associated with complex or unexplained ultrasound findings.
Genome sequencing
Genome sequencing is a more comprehensive test that examines nearly all of a baby’s DNA. In some situations, genome sequencing may identify genetic changes that other tests cannot detect.
How prenatal genetic testing works
Your doctor orders a test
Your doctor reviews your pregnancy history, ultrasound findings, and medical and family history to help determine which genetic test may be right for you.
Your sample is collected
Your doctor will retrieve a sample containing your baby’s DNA. Samples for testing are typically collected through either chorionic villus sampling (CVS) or amniocentesis, depending on your pregnancy and your provider's recommendation. That sample is securely sent to GeneDx for analysis.
Results are shared and discussed
Your doctor reviews the results with you and explains options for next steps, with support from genetic experts when needed.
Insurance & billing
GeneDx accepts most commercial insurance plans, Medicaid, Medicare, and Tricare. Prenatal genomic sequencing does not require prior authorization, helping avoid delays in testing.
You will only be responsible for any amount determined by your plan, such as copays, coinsurance, or deductibles, even if the claim is denied.
Financial assistance
We understand that out-of-pocket costs can be a concern. GeneDx offers a Financial Assistance Program for eligible patients, which may help reduce or eliminate remaining costs.
Questions? We're here to help
If you have questions, please contact us.
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