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

Pregnancy and childbirth can be one of the most exciting times in a woman’s life, but potential parents often have concerns about the health of their unborn child. Genetic counseling and prenatal diagnosis can help answer some key questions and provide expectant parents with information about their pregnancy. Couples who are thinking about having a child may consider genetic counseling before conception to determine if they have an increased risk for having a child with a birth defect, Down syndrome, or other inherited genetic conditions. Genetic counseling is also recommended for individuals or couples when there is a family history of birth defects, intellectual disabilities, or genetic disorders such as muscular dystrophy, cystic fibrosis or hemophilia. Others may use genetic counseling and prenatal diagnosis after they conceive to evaluate the condition of the fetus.

What is a genetic counselor?

Genetic counselors work closely with physicians. They are licensed health care professionals with specialized degrees and experience in the areas of reproductive genetics and counseling. A genetic counselor will ask you detailed questions about your family history to determine if your child is at increased risk for inheriting a genetic condition or birth defect. A genetic counselor coordinates prenatal screening tests and will help you interpret the results of the testing so that you can make educated decisions about your pregnancy. If you think that you may have a higher risk for having a child with birth defects or a genetic disorder, tell your doctor or call one of our genetic counselors.

What are some reasons to pursue genetic counseling?

  • Previous pregnancy/child with a birth defect or chromosome abnormality
  • Close relative with unexplained intellectual disabilities or birth defects
  • To learn more about available genetic screening and testing options
  • Family history or personal history of a genetic disorder
  • Advanced maternal age (35 years or older at estimated date of delivery)

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.

Prenatal Genetic Diagnosis and Screening Team

Penn obstetricians, geneticists and genetic counselors work together to determine the appropriate prenatal tests.

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