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#224 Single-Gene Noninvasive Prenatal Testing (NIPT) with BillionToOne

DNA Today: A Genetics Podcast

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Importance of Partner Testing and Carrier Screening in Prenatal Genetic Counseling

The chapter emphasizes the significance of partner testing for carriers of recessive conditions in prenatal genetic counseling and discusses how the unity workflow can benefit future pregnancies. It explores the rationale behind selecting specific disorders for carrier screening, the challenges in deciding which conditions to include in expanded carrier panels, and the clinical utility of genetic tests in the context of emerging therapies. The chapter also highlights the accuracy and benefits of single-gene noninvasive prenatal testing (NIPT) in providing specific risk information for each pregnancy and the potential shift towards cell-free DNA-based testing as the next standard of care in prenatal genetic screening.

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