Genetic Testing & Counseling

During a genetic counseling visit, our licensed, board-certified genetic counselor will review your health history and your family history to look for any risk factors. If there is a family history of a birth defect or genetic disorder, the genetic counselor will discuss the chance that the condition will occur again in your family. The genetic counselor will also provide up-to-date information about available screening and diagnostic tests, treatments, research options, support groups and community resources.

We will help you to sort through and understand your risks and to understand the variety of testing, screening and treatment options available. Our goal is to ensure that you and your family are comfortable with the decision you make and that you feel you make an informed choice.

Who might be referred for Genetic Counseling?

Women or couples who are planning to become pregnant or are already pregnant and have:

  • A family history of a genetic disorder or birth defect
  • A maternal age of 35 or older or a paternal age of 45 or over
  • A chromosomal translocation or inversion
  • A disease that affects pregnancy management such as seizures, diabetes, Marfan syndrome, heart defects, etc.
  • Had multiple pregnancy losses
  • An abnormal screening test for Down syndrome, spina bifida or any condition
  • An abnormal ultrasound
  • Been exposed to medications, drugs, alcohol or chemicals that could potentially harm the baby
  • Maternal viral infection that could harm the baby
  • An ethnic background that places them at a greater risk for having a child with a genetic disorder

The Genetic Counselor works in concert with St. Mary's Maternal Fetal Medicine physicians.

Infants, children or adults may also be referred for an evaluation if they have:

  • A known or suspected genetic or chromosomal abnormality
  • Developmental delays or mental retardation
  • Autism
  • One or more birth defects
  • A family history of genetic disorders or birth defects
  • Unusual facial features
  • Deafness
  • A growth abnormality, such as unusually short or tall stature
  • A metabolic disorder
  • Delayed puberty

Adults with any of the following may also benefit from genetic counseling:

  • A concern about anything that runs in your family
  • Multiple family members with cancer
  • A personal history of cancer diagnosed at an early age
  • A personal history of two or more separate cancers
  • Interest in genetic testing for cancer genes

Contact Us

St. Mary's Maternal Fetal Medicine & Genetics Center
812.485.1894

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