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Spring Survey 2012 Results

Carrier Screening: Prenatal Diagnosis for Genetic Conditions

PROGRAM DETAILS:

While most women give birth to healthy babies, it’s estimated that about 3 percent give birth to a baby who has a birth defect that is clinically significant, and in many cases these birth defects are caused by a genetic or chromosomal disorder. The UCSF Prenatal Diagnosis Center offers comprehensive genetic counseling, screening and diagnostic testing for genetic conditions. Dr. Ellen Simpson, a genetic counselor at UCSF Medical Center, joins Andrew for this Patient Power program to discuss the importance of carrier screening.

Dr. Simpson begins by explaining the risks for certain conditions and why some populations, such as those of Ashkenazic Jewish descent, tend be at a higher risk. From there she explains carrier screening, and how this can help people, even before pregnancy, to head off complications. Dr. Simpson speaks about the pre and post-pregnancy diagnostic options for detecting these genetic abnormalities, some of the most prevalent of which are cystic fibrosis and down syndrome.

UCSF provides support services through social workers, genetic counselors and resources in the community. Dr. Simpson speaks highly of the team at the UCSF Prenatal diagnosis Center. To quote her “…it’s important for patients to realize that they do have the power, and our job is to guide and advise but that the decisions are made by the patient and the couple, and our role is to be as supportive and as informative as we possibly can be for them at every step in that process.”

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EXPERTS & GUESTS:
Ellen Simpson, M.S., Ph.D.
Genetic Counselor, UCSF Prenatal Diagnostic Center, UCSF Medical Center
Dr. Ellen Simpson is a genetic counselor in the UCSF Prenatal Diagnostic Center at UCSF Medical Center. Dr. Simpson attended Simmons College and completed a BS degree in biology followed by a Ph.D. in biology from Washington University in St. Louis, Missouri. She then went on to get a Masters in genetic counseling from the University of California at Irvine.... more >

TRANSCRIPT:

  1. Introduction
  2. Benefits of Carrier Screening
  3. Pre and Post-Pregnancy Diagnostic Options
  4. Support for Families with a New Diagnosis
  5. Populations That May Benefit from Screening

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