Enhancing Prenatal Genetic Evaluation Through the Combination of Single-Gene Non-Invasive Prenatal Screening and Prenatal Imaging
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This review explores how combining single-gene non-invasive prenatal screening (cfDNA-SGD) with prenatal imaging techniques can enhance genetic evaluation during pregnancy. The authors aim to assess the effectiveness of a specific cfDNA-SGD panel that screens for 25 conditions, while also emphasizing the importance of imaging modalities like ultrasound and fetal MRI in refining prenatal diagnoses and guiding clinical management. They highlight the need for confirmatory testing before making clinical decisions based on cfDNA-SGD results.
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