Genetic Testing and Counseling

Young Happy Couple

For couples considering pregnancy or starting a family, The University of Kansas Health System offers preconception consultations, including genetic testing, carrier testing and genetic counseling. Preconception genetic testing is an important step in your family planning process that can help you identify possible problems that could impact a healthy pregnancy. The American College of Obstetricians and Gynecologists recommends information about genetic carrier screening be provided to every pregnant woman, and recommends testing be performed before pregnancy to provide couples with information about any reproductive risks. Doing so allows you to explore all of the reproductive options available to you.

Genetic testing options

  • Many couples are carriers of inherited conditions or genetic disorders and simply don't know it. Carriers are usually healthy, but have a risk of passing on a genetic condition to their children. Preconception carrier screening can help determine whether you carry inherited health conditions that you might pass on to a child. Knowing this information before you get pregnant can make a difference in your family's health and well-being. The results of these tests are discussed with you by a genetic counselor, who can explain if you or your partner are carriers and what that means for a baby.

  • PGD, or single gene testing, is a test that helps increase the likelihood of giving birth to a healthy baby for couples identified as at-risk of having a child with a specific genetic disorder. PGD involves testing embryos created through in vitro fertilization (IVF) and then transferring unaffected embryos. With this test, you decrease the chances of your baby having an inherited genetic disorder and give them the best chance for a healthy start.

  • PGS, also called preimplantation aneuploidy testing, tests whether an embryo created through in vitro fertilization has the correct number of chromosomes. Abnormalities like too few or too many chromosomes in an embryo (aneuploidy), is the leading cause of infertility and miscarriage. All couples are at risk for having abnormal embryos, and this risk increases significantly as we get older. Much like PGD, PGS increases the chances of a healthy pregnancy and live birth from IVF.

About genetic counseling

Genetic counseling can help you understand your risk factors as well as the medical, emotional and familial implications of genetic disease. Genetic counseling can also:

  • Interpret your family and medical histories to determine your chance of disease, or disease recurrence
  • Provide education about inheritance, testing, management, prevention, resources and research
  • Offer guidance and support to help you make informed choices

What does a genetic counselor do?

  • Take a detailed medical and family history to assess risk.
  • Discuss the risks, benefits, limitations and alternatives to any testing.
  • Coordinate testing with the necessary medical professionals and laboratories.
  • Translate the results of genetic tests and how they affect you personally.
  • Explain any possible treatments, prevention or options regarding prenatal genetic disorders.
  • Provide support and information to help patients make decisions.

Who might see a genetic counselor?

  • Someone with a family or personal history of birth defects or a genetic disease.
  • Someone with abnormal prenatal screening results.
  • Someone with concerns regarding ultrasound findings.
  • Couples who have experienced multiple pregnancy losses.
  • Pregnant women who are concerned about exposures in their pregnancy.
  • Someone who would like more information about testing for conditions that occur frequently in their ethnic group.
  • Couples who are blood relatives.
  • Someone who has questions about the options for testing before or during pregnancy.

Why choose The University of Kansas Health System

  • A regional leader in preimplantation genetics – We offer the region's largest group of scientists, including four clinical embryologists.
  • Certified Center of Excellence – Our embryololgy laboratory is one of only three programs in the nation to be certified a Center of Excellence by the American Society for Reproductive Medicine.
  • Advanced training – Our genetic counselors are board-certified by the American Board of Genetic Counseling and have more than 15 years of experience each in the field of prenatal genetic counseling.
  • At the forefront of medicine – We are an academic medical center. That means we offer a complete range of fertility options from screening to diagnostic testing. Many of the infertility services available here are not available anywhere else in the Kansas City region.