Prenatal Genetic Counseling

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[edit] 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, a prenatal genetic counselor can help the couple understand the medical information, what to expect, how to prepare for the birth of child with special needs, as well as 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 a blood test and ultrasound may be able to give a better idea if a developing baby has a chance of having birth defects or a genetic condition.


[edit] You may want to meet with a prenatal genetic counselor if you or your partner:

  • Are worried about a genetic condition or a disorder 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 stillbirth)
  • 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.

[edit] What services can a prenatal genetic counselor provide?

  • Go over your family and medical history with you
  • Figure out and explain your chances for 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 understand medical and genetic information
  • If a problem is detected during pregnancy, provide you with information about the problem and help you understand your options
  • Provide counseling and emotional support
  • Refer you to support and advocacy networks

[edit] 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:
    • any major illnesses
    • chronic conditions such as diabetes or heart disease
    • medications you are taking
  • The health history of other members of your family (and your partner’s family), including:
    • children
    • siblings and 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 cause of their deaths.

  • 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.
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