Prenatal (and Preconception) Genetic Counseling and Consultation Services 

 

What is Genetic Counseling?

Genetic counseling is a consultation with a specially trained health care provider.  The discussion includes information about the risk for a genetic condition or birth defect.  The goal of the discussion is to help a person, couple or family understand possible risks, as well as available testing and management options.  A genetic counselor provides individualized counseling and will discuss any concerns that individuals, couples or families may have for themselves, their children, or their pregnancies. 

 

What may happen during a prenatal genetic counseling session?

  • The reason for your visit is discussed.

  • Your family, medical and pregnancy histories are reviewed.

  • Both family-specific and standard general population risks for the fetus are considered and evaluated in order to estimate your risk for having a child affected with a birth defect or a genetic condition. Any identified risk factors will be discussed.

  • Information about available testing options, including the risks, benefits and limitations of each test, is discussed.

  • You are provided with the opportunity to ask questions about any genetic concerns you may have.

  • Based on your knowledge and judgment, you decide whether to have any genetic testing.

  • The decision to pursue or decline any genetic procedure or testing is entirely yours.

  • Options for carrier testing for couples may be reviewed.  Carrier screening available to couples in the pre-conception or prenatal periods include (but is not limited to):

    • Cystic fibrosis 

    • Hemoglobinopathies (including sickle cell disease and alpha- & beta-thalassemia)

    • Ashkenazi Jewish disorders

    • Expanded carrier screening

 
How does the genetic counselor work with my doctor(s)?

Either your primary care doctor or a specialist can refer you for genetic counseling.  You can also refer yourself if you have any concerns.  After the genetic counseling session, the genetic counselor sends a summary report to your doctor(s).

 

Who should consider prenatal genetic counseling? 
(PLEASE NOTE: This list is meant to provide examples and may not include every possible indication for referral for genetics services.)

  • Women who will be 35 years or older at the time of delivery

  • Men who will be 40 years or older at the time of delivery

  • Anyone with maternal blood testing that indicates an increased risk for Down syndrome, trisomy 18, trisomy 13, or a neural tube defect

  • Anyone with abnormal or suspicious fetal ultrasound findings

  • Anyone with positive carrier screening, like fpr cystic fibrosis or sickle cell anemia. 

  • Anyone with a family history of a birth defect, handicap, mental retardation or genetic condition.

  • Anyone who is concerned that a job, lifestyle or medical history may pose a risk to a pregnancy (examples: exposure to infection, medicines, chemicals, alcohol or street drugs).

  • Anyone with two or more unexplained miscarriages or early infant deaths

  • Anyone with infertility issues that may have been caused by a genetic abnormality

  • Couples who are first cousins or other close blood relatives

  • Anyone who is planning a pregnancy and wants a genetic consultation prior to conception.


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