Optimizing Carrier Screening: Insights and Recommendations From a Maternal-Fetal Medicine Practice
Highlight
Carrier screening is frequently performed later than optimal in pregnancy, leading to compressed timelines for partner testing and prenatal decision-making. Variation in screening practices among referring clinicians creates inequities in genetic risk detection. Screening often uses discordant panels within couples, which delays clarifying reproductive risk and complicates counseling. Prioritizing prepregnancy screening or early pregnancy screening with concurrent partner testing and comprehensive counseling can mitigate these issues.
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This article was created using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication.