Integrating newborn genetic screening with traditional screening to improve newborn screening

As an emerging screening method for newborns, NBGS offers the potential to detect a broader spectrum of pathogenic gene variants, reduce false-positive rates, and shorten the diagnostic cycle. However, current NBGS technology has limitations and cannot fully supplant traditional detection methods. Therefore, integrating both approaches can become a critical strategy for enhancing the accuracy and efficiency of newborn screening.

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Publication Details

Journal
The Journal of Maternal-Fetal & Neonatal Medicine
Published
2025-11-06
DOI
https://doi.org/10.1080/14767058.2025.2583588
Citations
2
Primary Topic
Metabolism and Genetic Disorders
Type
article
Field-Weighted Citation Impact
2.64
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article

Integrating newborn genetic screening with traditional screening to improve newborn screening

Xinxin Tang, Shuaimei Liu, Shuai Men, Shuang Liu et al.
2 citations
The Journal of Maternal-Fetal & Neonatal Medicine
Metabolism and Genetic Disorders
2.64
article

Integrating newborn genetic screening with traditional screening to improve newborn screening

Xinxin Tang, Shuaimei Liu, Shuai Men, Shuang Liu, Leilei Wang, Yali Zhao, Zhiwei Wang, Yulin Wu
article en
2 citations

Abstract

As an emerging screening method for newborns, NBGS offers the potential to detect a broader spectrum of pathogenic gene variants, reduce false-positive rates, and shorten the diagnostic cycle. However, current NBGS technology has limitations and cannot fully supplant traditional detection methods. Therefore, integrating both approaches can become a critical strategy for enhancing the accuracy and efficiency of newborn screening.

The Journal of Maternal-Fetal & Neonatal MedicineVol. 38(1)
National Health and Family Planning Commission (CN), Lianyungang Maternal and Children’s Hospital (CN)
Openalex Percentile: Top 8%
Metabolism and Genetic Disorders
2.64
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