Expanded carrier screening in pregnant women and women planning pregnancy
- Britton D Rink, MD, MS
Britton D Rink, MD, MS
- Director of Perinatal Genetics
- Mount Carmel Health Systems
- Columbus, Ohio
Historically, the approach to preconception and prenatal carrier screening has been selective (ie, targeted or condition-directed), based primarily on race/ethnicity and personal/family history. Increasingly, however, patients are asking for and being offered a broader approach to carrier screening, which is possible because of rapid advancements in genetic testing technologies and decreasing costs. Although the information from expanded carrier screening can inform patient and provider decision-making, it can also present practical and ethical challenges that need to be considered.
This topic will discuss issues related to expanded carrier screening in women planning pregnancy or who are pregnant. Genetic screening in specific populations and for specific conditions are reviewed separately:To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
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- WHAT IS EXPANDED CARRIER SCREENING?
- RATIONALE AND GOAL
- Identification of carriers regardless of race/ethnicity
- Identification of a wide range of genetic conditions
- HARMS AND LIMITATIONS
- Identification of conditions of limited impact, uncertain prevalence, or poorly defined phenotype
- Identification of variants of uncertain clinical significance
- Lack of detection of private mutations
- PRE- AND POST-TEST COUNSELING
- Referral to a provider with genetics expertise
- CHOOSING A SCREENING PANEL
- When to avoid prenatal expanded carrier screening
- PROFESSIONAL SOCIETY STATEMENTS ON EXPANDED CARRIER SCREENING
- SUMMARY AND RECOMMENDATIONS