Research progress on the influencing factors and existing problems of screening results of neonatal inherited metabolic diseases

ZHANG Yue; ZHAO Jun; GAO Hua-fang; MA Xu

doi:10.11852/zgetbjzz2019-0584

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Chinese Journal of Child Health Care ›› 2020, Vol. 28 ›› Issue (3) : 281-283. DOI: 10.11852/zgetbjzz2019-0584

Research progress on the influencing factors and existing problems of screening results of neonatal inherited metabolic diseases

ZHANG Yue^1,2, ZHAO Jun², GAO Hua-fang^1,2, MA Xu²

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Abstract

This paper summarizes the current situation of inherited metabolic disease (IMD) screening for neonates in China,combs the influencing factors for screening results and the prominent problems in the screening process,such as unreasonable neonatal blood collection time,the non-standard screening index of cut-off value and low recall rate of positive screening newborns,thereby providing reference for the standardization of IMD screening for neonates in China.

Key words

newborn / inherited metabolic disease / screening

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ZHANG Yue, ZHAO Jun, GAO Hua-fang, MA Xu. Research progress on the influencing factors and existing problems of screening results of neonatal inherited metabolic diseases[J]. Chinese Journal of Child Health Care. 2020, 28(3): 281-283 https://doi.org/10.11852/zgetbjzz2019-0584

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