Diagnosing and Treating Reproductive Genetic Disorders

As the only known multidisciplinary clinic of its kind in the United States, we are pleased to offer you and/or your partner a chance at answers to guide your next steps on your reproductive journey. Our clinic may be the right choice for you if you have, or suspect, genetic factors affecting fertility, conception, pregnancy complications, and/or pregnancy loss.

We also partner to care for you and your developing baby during pregnancy when there is a genetic concern—such as one identified in your family, by carrier screening (a standard genetic test to check for a risk of having a child with a genetic condition), or by cell-free DNA screening (cfDNA)—that requires you to be seen quickly so you can receive guidance on reproductive decision-making or immediate care.

By providing genetic testing specifically for genetic reproductive disorders, we can help answer important questions like “Should we keep trying to conceive naturally or try in vitro fertilization?,” “Do I have a genetic condition, and if so, is there a way to prevent passing on my condition to conceive or carry a healthy pregnancy?,” or “Is it time to consider other fertility or reproductive treatments and options, and if so, which ones?”

Reproductive genetic testing and counseling

Our first step in caring for you and/or your partner is conducting genetic testing that is related to the reproductive problem that you are having. This gives us the answers we need to inform your care and help you make decisions. When coming to us for care, you can expect:

  • An initial appointment with a genetic counselor at one of our Bay Area Perinatal Diagnostic Centers. They will make note of your detailed personal, family, and genetic health history, including a review of your and your partner’s prior genetic testing results. If an underlying reproductive genetic condition is identified, you will be referred to our Reproductive Genetics Clinic.
  • A follow-up visit in person or virtually with our clinic care team medical geneticist and one of our perinatal genetic counselors, both of whom specialize in genetic diseases that can cause problems before, during, and after pregnancy. The team will review your history and prior testing and suggest advanced reproductive genetic testing as needed.
  • You may then undergo reproductive genetic testing that may help reveal reasons why you are struggling to conceive, carry, or deliver a baby.
  • Next, our team provides a follow-up visit to review new reproductive genetic test results, suggest other tests that may be needed, and/or discuss joining a Stanford research study related to your condition. At this appointment, we help provide answers and explore possible treatments.

Genetic testing and counseling visits take place within Stanford Medicine Children’s Health Perinatal Diagnostic Centers across the Bay Area and beyond. Visits with reproductive genetic doctors and extended teams are scheduled at Lucile Packard Children’s Hospital Stanford in person or via telehealth.

Reproductive genetic treatments

With possible answers in hand, we assemble a team of providers to determine your tailored treatment plan. Care steps may include:

By providing a continuum of care from diagnosis to treatment, including partnering with various specialists, we help you move forward in the most promising way toward starting a family.