Genetic Screening and Testing

Our team of obstetricians, geneticists and genetic counselors will work with you to recommend the appropriate screening and testing before and during pregnancy, and will empower you to understand your genetic risk.

Physician discussing with patient

Approximately one in 33 infants have a birth defect that affects how the brain, body or both function. Some birth defects are genetic. A gene change (mutation) causes the condition. A child may inherit a genetic disorder, or the mutation may occur without any known cause.

If a genetic condition affects your family, Penn Medicine genetic experts help you understand the disorder and prepare for the future.

What Is Prenatal Genetic Testing?

Geneticists are doctors who diagnose genetic disorders. Some prenatal screenings, like ultrasounds, take place routinely during pregnancy. An ultrasound may detect fetal heart problems and specific chromosomal abnormalities. While this type of screening is helpful, only a geneticist can perform genetic tests to definitively diagnose certain issues.

If your child has a genetic disorder, our compassionate genetic counselors provide support. We help you understand the diagnosis and what it means for your family. We also connect you with helpful resources for your family’s future.

At Penn, we offer comprehensive services to detect all types of genetic conditions. When appropriate, we collect and test an infant’s cord blood to test for genetic disorders. Learn more about our prenatal genetic diagnosis and screening services.

Prenatal Genetic Testing at Penn Medicine: Why Choose Us?

Penn geneticists are global experts. Our doctors actively contributed to developing the national and international prenatal genetic screening guidelines in use today. Families who choose Penn benefit from:

  • Leading expertise: Your care team includes doctors who have advanced, board-certified training in genetics, obstetrics and high-risk pregnancies. Your team meets monthly to collaborate and develop a care plan specific to your family’s unique circumstances.
  • Screening and counseling services: We perform screenings to assess the risk of passing on a known inherited genetic disorder. When appropriate, we partner with Penn Fertility Care for options like preimplantation genetic testing. This embryo screening test can reduce the risk of having a child with an inherited genetic disorder.
  • Advanced care for critically ill infants: Our level 3 neonatal intensive care units (NICUs) tend to newborns with complex medical needs. Here, your baby receives care from Children’s Hospital of Philadelphia (CHOP) neonatologists who specialize in helping critically ill infants. Depending on your baby’s condition, you may see Penn and CHOP doctors throughout your pregnancy. We quickly transport newborns who need surgical procedures to CHOP.
  • Pregnancy options: Rarely, babies have problems so severe that they cannot survive outside of the womb. In these cases, some families decide to end the pregnancy. Experts at our Pregnancy Early Access Center (PEACE) can discuss options. If needed, we also perform termination procedures. PEACE can also help you learn more about your birth control and family planning options after a pregnancy loss or while making decisions about your family’s future.
  • Emotional support: Caring for a child with medical needs can be stressful. Our behavioral health specialists help you cope.
  • Ease of access: We offer genetic diagnostic services at all Penn hospitals that provide maternity care. Services are also available at Penn Medicine Cherry Hill in New Jersey.

Who Might Need Prenatal Genetic Testing?

Your family may need prenatal genetic testing if you have a:

  • Child with a known genetic disorder or birth defect
  • Close family member with a birth defect or unexplained intellectual disabilities
  • Family or personal history of a genetic disorder
  • Known chromosomal abnormality in a prior pregnancy
  • Maternal age of 35 or older (older women have a higher risk of having a child with Down syndrome or another chromosomal abnormality)

Request an Appointment

To request an appointment, please call 800-789-7366 or complete our online form.

In This Section

Prenatal Genetic Diagnosis and Screening Services

Your Penn obstetrician will offer you a variety of prenatal screening tests to determine risks to your baby's health and well-being.

Prenatal Genetic Conditions Glossary

To better understand prenatal screening, view a glossary of prenatal genetic conditions.

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