Why choose Geisinger for genetic testing during pregnancy?
Whether you have a family history of a genetic condition or simply want more information, genetic testing and screening can help you better understand your baby’s health before birth.
Your care team may recommend genetic testing during pregnancy for many reasons. Our team will help you understand which tests are appropriate for you — and what the results can mean.
With your genetic counseling and maternal-fetal medicine teams by your side, you’ll never face a diagnosis or decision alone. We’ll help you understand your options and find a clear path forward.
Most tests require only a simple blood draw.
A genetic counselor would be happy to meet with you, review your personal and family history and discuss genetic screening and testing options that may be best for you and your family. If you’re thinking about genetic counseling, talk to your provider.
Tests and screenings we offer
FAQs
Who should have genetic testing during pregnancy?
You may benefit from prenatal genetic testing if:
- A genetic condition runs in your or your partner’s family
- You’re 35 or older
- Your ultrasound identified something that could affect your baby’s development
- You want more information to feel better prepared
What is genetic screening?
Genetic screening tests can tell you if your baby has a chance to inherit any genetic conditions. Types of genetic screening tests include:
- Cell-free DNA testing: The most common option is cell-free fetal DNA screening (also called non-invasive prenatal testing). This simple blood test — the most accurate genetic screening available — will tell you if your pregnancy is high or low risk for a variety of conditions, as well as information about the child’s sex.
- Maternal serum alpha-fetoprotein: This blood test is performed between weeks 16 and 22. It looks for a marker in your blood to determine if your pregnancy is at high risk for spina bifida or abdominal wall defects.
- Carrier screening: This blood test looks at your and your reproductive partner’s genetic information to see if you carry any of up to 600 recessive genetic conditions. Carriers typically don’t have the condition themselves, but if you both carry the same condition, your baby may need further testing.
What can genetic testing during pregnancy tell you?
Genetic testing can identify:
- The chance your baby has chromosomal abnormalities, such as Down syndrome
- The chance you carry a recessive genetic condition
- A diagnosis of chromosomal abnormalities and other rarer genetic conditions that may affect your baby
What happens if my results show a concern?
What is carrier screening?
This blood test analyzes samples from both biological parents to determine if you carry any of several genetic conditions. If you’re both carriers of a certain genetic condition, your children will have an increased risk of inheriting the condition.
You may be offered screenings for more conditions based on your family history or other factors specific to your pregnancy. There are options for carrier screening for more than 600 conditions.
What are diagnostic genetic tests?
Diagnostic genetic tests can tell you if your baby will have certain conditions. If genetic screening calculates the chance your baby has a condition, diagnostic tests tell you whether or not your baby has a certain condition. Tests include:
- Amniocentesis: This procedure, performed by a maternal-fetal medicine specialist, is monitored by ultrasound and involves placing a needle into your abdomen to collect amniotic fluid. This test may be offered if your pregnancy is considered high risk.
- Chorionic villus sampling (CVS): This test takes place between weeks 11 and 14. A maternal-fetal medicine specialist inserts a needle into your abdomen to collect placental tissue, then tests it to determine if your baby has a genetic condition.
Amniocentesis and CVS collect genetic information from your baby. Based on your medical history, family history and test results, your care team will recommend the testing option that's right for you.
Genetic testing during pregnancy at Geisinger
Genetic counselors and maternal-fetal medicine specialists are here to help.
- Convenient care, close to home: With locations throughout central and northeastern Pennsylvania, your care is just around the corner.
- Support when you need it: Whatever your results show, you won’t have to face them alone. You’ll have our team of genetic counselors and maternal-fetal medicine specialists beside you every step of the way, from understanding results to planning your next steps.
- Comprehensive test options: From routine tests to more involved diagnoses, our team will recommend which tests are appropriate for your specific pregnancy, and explain what the results mean for your family’s path forward.