The predictive value of prenatal cell-free DNA testing for rare autosomal trisomies: a systematic review and meta-analysis

American Journal of Obstetrics and Gynecology(2023)

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摘要
The positive predictive value of cell-free DNA in diagnosing rare autosomal trisomies is approximately 11%. Clinicians should provide this information when offering cell-free DNA for screening of conditions outside of common autosomal trisomies.
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关键词
diagnostic accuracy,cell-free DNA,expanded genome testing,noninvasive prenatal testing,predictive value,rare autosomal trisomy
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