What is genetic counseling for pregnancy

Prenatal genetic counseling is a medical appointment at which an expecting parent speaks with a licensed and certified genetic counselor. The appointment can be done by phone or video and typically takes 30 minutes.

A genetic counselor is a healthcare professional trained to elicit information to assess potential risks to a baby and discuss the availability of appropriate screening and testing options.

Why might an expecting parent be referred to a prenatal genetic counselor?

There are many reasons why a person or couple might be referred to a prenatal genetic counselor. Examples include:

  • To discuss the availability, benefits and limitations of the many prenatal genetic screening and diagnostic testing options out there.
  • A positive prenatal genetic screening or diagnostic test result.
  • A history of multiple miscarriages.
  • A personal or family history of a birth defect, genetic condition or chromosome issue.
  • Exposure to a substance, such as a medication, infection or radiation, that may be harmful to the baby.
  • Advanced maternal age (>35 at the time of delivery) or paternal age (>39 age at the time of conception). Learn more about genetic testing for pregnancy in women over 35.

How can prenatal genetic counseling help expecting parents learn more about risks to a baby and the availability of prenatal genetic screening and diagnostic testing options?

During the appointment, a prenatal genetic counselor will ask for a personal and family medical history. In each pregnancy, there is a 3-4% chance of a genetic condition, chromosome abnormality, birth defect, or intellectual disability, The information obtained from the histories can help the genetic counselor know if any circumstances increase a baby’s risk for a health concern. Based on this discussion, appropriate prenatal genetic testing options will be offered.

Learn more about genetic testing and pregnancy.

To speak with a genetic counselor, you can schedule an appointment online or call to schedule at (877) 688-0992.

Who Should Get Prenatal Genetic Counseling?

An expecting parent may be referred to a prenatal genetic counselor for many reasons, including:

  • To discuss the availability, benefits and limitations of the many prenatal genetic screening and diagnostic testing options out there.
  • A positive prenatal genetic screening or diagnostic test result.
  • A history of multiple miscarriages.
  • A personal or family history of a birth defect, genetic condition or chromosome issue.
  • Exposure to a substance, such as a medication, infection or radiation, that may be harmful to the baby.
  • Advanced maternal (>35) at the time of delivery or paternal (>39) age at the time of conception. Learn more about genetic testing and screening for pregnancy in women over 35.

In addition, a person or couple may choose to proactively meet with a prenatal genetic counselor if they have concerns about such matters and want to better understand their risk and the availability of prenatal genetic screening and testing options.

What to Expect During Prenatal Counseling?

During the appointment, a prenatal genetic counselor will ask for a personal and family medical history. The information obtained from the histories can help the genetic counselor know if any circumstances increases a baby’s risk for a health concern. Based on this discussion, appropriate prenatal genetic testing options will be offered.

What Can I Do to Prepare for My Appointment?

Talking with your family members in order to obtain a complete family medical history can increase the accuracy of the prenatal genetic counselor’s risk assessment and allow the counselor to provide the most appropriate next steps in your prenatal care. Information commonly asked for during an appointment can include a personal or family history of:

  • intellectual disabilities, developmental delay or autism spectrum disorder
  • early onset blindness or deafness
  • neurological, muscular or skeletal disorders
  • birth defects (like a cleft lip), genetic conditions (like cystic fibrosis) or chromosome conditions (like Down syndrome)
  • infant deaths, infertility, or recurrent pregnancy loss
  • consanguinity (you or your partner are related by blood)
  • sudden death or cardiac disease diagnosed under the age of fifty
  • cancer diagnosed under the age of fifty

Information is requested about the pregnant woman and father of the pregnancy as well as their other children, siblings, siblings’ children, parents, and aunts/uncles. Information about the couple’s cousins can be included if there is relevant history.

The more a person knows about their family history, including a relative’s specific diagnosis, age of onset, age of death, disease etiology and what medical evaluations were conducted, the more accurate the prenatal genetic counselor’s risk assessment.

Schedule a Prenatal Counseling Appointment

If you have been referred to speak, or would like to proactively meet, with a prenatal genetic counselor to discuss concerns you have regarding your pregnancy, to better understand your risks and to obtain information regarding prenatal genetic screening and testing options, reach out to Genome Medical at (877) 688-0992 or schedule online.

Prenatal genetic counselors work with individuals, couples, or families who have an increased chance of having a child with a birth defect or genetic condition. Those who are already pregnant or are considering having a child in the future can meet with a prenatal genetic counselor to learn more about the condition in question, understand their risks more clearly, and discuss options for prenatal screening, testing, and/or assisted reproduction techniques such as sperm and egg donation. During pregnancy, if a baby is found to have a birth defect or genetic condition you may be referred to a prenatal genetic counselor. The counselor will help the expecting couple understand the medical information, what to expect, and how to prepare for the birth of a child with special needs, as well as discuss options such as pregnancy termination or adoption.

Prenatal counselors also help many families who do not have an increased chance of having a child with a birth defect or genetic condition understand prenatal screening and testing options. Procedures such as blood tests and ultrasounds may be able to give a better idea if a developing baby has a chance of having birth defects or a genetic condition.

You and your partner:

  • Are worried about a genetic condition or a disease that runs in your family

  • Have a child who is affected with a genetic condition and are thinking about having another child in the future

  • Have family members with mental retardation or birth defects

  • Have a history of infertility or pregnancy losses (miscarriages or stillbirths)

  • Are concerned that your health or lifestyle poses a risk to the pregnancy

  • Are concerned about risks to the pregnancy associated with increasing parental age

  • Receive abnormal prenatal screening or ultrasound results

  • Are concerned that you are at increased risk of being a carrier of a genetic condition because of your ethnic background (some diseases are more common in certain ethnicities)

  • Are pregnant and the baby has been diagnosed with a birth defect or genetic condition

  • Have taken a medication or drug during pregnancy or have been exposed to a chemical and are concerned that it might cause a problem for the baby

The counselor will ask some questions about your family and medical history, so you may want to prepare a few things before your appointment. Information to bring with you might include:

  • Your (or your partner’s) pregnancy history, including your current and past pregnancies. The counselor may ask about:

    • births and miscarriages

    • terminations or abortions

    • pregnancy complications

  • Your (and your partner’s) medical and health history:

    • major illnesses

    • chronic conditions such as diabetes or heart disease

    • medications you are taking

  • The health history of other members of your and your partner’s family, including:

    • children

    • siblings, half-siblings, and their children

    • parents

    • aunts

    • uncles

    • first cousins

    • grandparents

The counselor may ask if any of your relatives have had major illnesses or chronic conditions. If any of those relatives have died, the counselor will probably ask their ages and causes of their deaths.

The counselor may collect information about any miscarriages, stillbirths, and/or children who died young in either family. The counselor may also ask if anyone in the family was born with a birth defect or had developmental delays, learning disabilities, or mental retardation.

The counselor may also ask about your (and your partner’s) ethnic background or from where your ancestors came (what country or part of the world). This is because some genetic conditions are more common in certain ethnic groups.

What will happen during my appointment?

Depending on the reason for the visit, some things a genetic counselor may do during an appointment are:

  • Go over your family and medical history with you

  • Figure out and explain your chances of having a child with specific genetic conditions

  • Help you explore and make decisions about your options for screening and testing before and during pregnancy

  • Help you interpret screening or testing results

  • Help you understand medical and genetic information

  • Provide you with information about any problems detected during pregnancy and help you understand your options

  • Provide counseling and emotional support

  • Refer you to support and advocacy networks