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National Society of Genetic Counselors; Genetic Alliance. Making Sense of Your Genes: A Guide to Genetic Counselling. Washington (DC): Genetic Alliance; 2008.

Cover of Making Sense of Your Genes

Making Sense of Your Genes: A Guide to Genetic Counselling.

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Prenatal genetic counseling

What is prenatal genetic counseling?

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.

Why see a prenatal genetic counselor?

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

What can I do to prepare for my appointment?

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
Copyright © 2008, Genetic Alliance.

All Genetic Alliance content, except where otherwise noted, is licensed under a Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Bookshelf ID: NBK115507

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