Prenatal testing and genetic counseling

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Learn about your baby’s health through prenatal and genetic screening

Prenatal testing and genetic counseling at Penn Medicine help you stay informed about your unborn baby’s development. In the rare case that your baby has an anomaly, genetic testing during pregnancy allows our geneticists to detect it early. We can then help you understand the condition and plan for your baby’s future.

You may also choose pre-pregnancy carrier screening to determine whether you, your partner, or both carry genes that may impact a future pregnancy. People who have in vitro fertilization (IVF) through Penn Medicine fertility services can opt for preimplantation genetic testing to screen embryos for genetic disorders.

Global leaders in prenatal genetic screening guidelines

At Penn Medicine, you have access to board-certified geneticists and obstetricians with expertise in high-risk pregnancies. Our physicians helped develop the prenatal genetic screening guidelines currently used worldwide.

We offer advanced testing and screening technology to detect genetic conditions. When appropriate, we can also collect and test an infant’s cord blood for genetic conditions.

You may receive genetic diagnostic services at all hospitals that provide maternity care, as well as Penn Medicine Cherry Hill in New Jersey.

Prenatal genetic diagnosis and screening services

If you have risk factors for a genetic disorder, your provider may recommend genetic screening tests. These include:

Who should have prenatal genetic testing?

You aren’t required to have prenatal genetic testing, but it can help ease any anxiety you may have about your baby’s development during pre-pregnancy planning or your pregnancy. Our specialists may recommend testing for people with:

  • A previous pregnancy with a known chromosomal abnormality
  • Children with a known genetic condition or congenital disorder
  • Close relatives with a congenital abnormality or unexplained cognitive impairment  
  • Family history of a genetic disorder
  • Maternal age of 35 or older (age increases the risk of having a child with Down syndrome and other chromosomal conditions)

If tests show your child has a genetic disorder, our compassionate genetic counselors provide support, guidance, and education. We thoroughly explain the diagnosis and what it means for your family. We also connect you with helpful resources for continued care.

Support and resources for families with medical needs

The discovery that your child has a genetic condition or congenital anomaly is life-changing for you and your family. You may feel overwhelmed and unsure how to prepare. Our compassionate specialists are here for you. At Penn Medicine, we offer a full range of supportive services and resources to help you navigate this journey.

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