评论 Dijkstra 等人：《酪氨酸血症 1 型新生儿筛查假阴性--重新评估琥珀酰丙酮新生儿筛查的必要性》。Int.J. Neonatal Screen.2023, 9, 66.

IF 4 Q1 GENETICS & HEREDITY International Journal of Neonatal Screening Pub Date : 2024-09-24 DOI:10.3390/ijns10040065

Marelle J Bouva, Rose E Maase, Ruurd M van Elburg

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摘要

评估新生儿筛查 (NBS) 算法的性能以确保质量改进是一个持续的过程：假阳性转诊可在短期内实现优化，但假阴性转诊往往在筛查进行多年后才被发现[......]。

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Comment on Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66.

The assessment of newborn screening (NBS) algorithms' performance to ensure quality improvements is a continuous process: false-positive referrals can enable optimisations in the shorter term, but false-negative referrals are often only discovered many years after the screening has taken place [...].

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