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A comparison of first trimester prenatal screening strategies for Down Syndrome with maternal age and preferences considerations

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Screening for Down Syndrome (DS) includes traditional ultrasound and serum‐based and cell‐free DNA (cfDNA) testing. While cfDNA testing usually has superior performance, it is significantly more costly. As an alternative,… Click to show full abstract

Screening for Down Syndrome (DS) includes traditional ultrasound and serum‐based and cell‐free DNA (cfDNA) testing. While cfDNA testing usually has superior performance, it is significantly more costly. As an alternative, a hybrid strategy combining contingent cfDNA with traditional testing is recommended when universal cfDNA screening is not feasible. This study compares the efficacy of traditional, contingent cfDNA, and universal cfDNA screening strategies at various cut‐offs based on maternal age and parents' preferences, which may improve testing outcomes and patients' satisfaction.

Keywords: trimester prenatal; first trimester; screening strategies; comparison first; maternal age

Journal Title: Prenatal Diagnosis
Year Published: 2020

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