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Pregnancy and Family Planning

A prenatal genetic counselor may talk to you about the following:

  • Available genetic screening for chromosome conditions during an ongoing pregnancy including conditions such as Down syndrome, trisomy 13, and trisomy 18.
  • Genetic testing for conditions you or your partner could pass on to a future pregnancy (called carrier screening) prior to getting pregnant, or during a pregnancy.
  • Differences found on an ultrasound that could have an underlying genetic cause.
  • Your family and/or personal medical history that may be relevant to the pregnancy.
  • Any potential exposures or infections that could affect the pregnancy.

Pregnancy or family planning is the most common reason people see genetic counselors. Genetic counselors can speak with people who are pregnant (often referred to as prenatal) or those who are thinking about becoming pregnant.

They also talk to families when something is identified on an ultrasound and discuss potential genetic causes, testing options, and how a genetic diagnosis may impact the outcome of a pregnancy.

Why See a Genetic Counselor for Pregnancy or Family Planning?

Some reasons that pregnant people or those looking to become pregnant might see a genetic counselor include:

  • You wonder about your baby’s risk of having a birth defect or genetic condition that runs in your family.
  • You’ve been unable to conceive, have had three or more miscarriages, or lost a child, and you are wondering if genetics played a role.
  • You’re pregnant and your doctor talked to you about genetic testing.
  • You've received a concerning test result or had an ultrasound that suggests there might be a problem and you would like guidance on interpreting results.

Genetic Testing Before You’re Pregnant

Some who learn they have a family history of a genetic disorder may choose to undergo testing before they become pregnant, which is called preimplantation testing. Using this method, individuals see a fertility specialist and undergo assisted reproduction, and then have the embryos tested to determine if any have inherited the disorder. Embryos that don’t test positive for the genetic disorder are transferred to the uterus with the hope of leading to a pregnancy.

Genetic Testing When You’re Pregnant

There are a number of prenatal screening tests that may be recommended by your doctor when you are pregnant. One test, called cell-free DNA screening (cfDNA) or non-invasive prenatal testing (NIPT), is a screening test that can be done as early as 9 or 10 weeks into the pregnancy by drawing a small amount of blood. It screens for Down syndrome and trisomy 18, and can screen for other conditions too, including trisomy 13, Turner syndrome and Klinefelter syndrome.

Many individuals do not realize what these tests may or may not tell them, so meeting with a genetic counselor prior to having cfDNA or other prenatal screening tests is highly recommended. Because cfDNA is a screening test, your doctor or genetic counselor may recommend a follow-up diagnostic test, such as amniocentesis, to confirm the screening test results.

Resources for Pregnancy and Family Planning

For additional resources related to Pregnancy and Family Planning, visit the Resources to Help You section of the site and use the "Pregnancy/Family Planning" filter.