A retrospective analysis of MS/MS screening for IEM in high-risk areas

Abstract Inborn errors of metabolism (IEM) can lead to severe motor and neurological developmental disorders and even disability and death in children due to untimely treatment. In this study, we used tandem mass spectrometry (MS/MS) for primary screening and recall of those with positive primary sc...
Ausführliche Beschreibung

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Autor*in:	He, Xiao [verfasserIn] Kuang, Juan Lai, Jiahong Huang, Jingxiong Wang, Yijin Lan, Guofeng Xie, Yingjun Shi, Xuekai

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2023

Schlagwörter:	Inborn errors of metabolism Newborn screening Tandem mass spectrometry Genetic testing Sequencing

Anmerkung:	© The Author(s) 2023

Übergeordnetes Werk:	Enthalten in: BMC medical genomics - London : BioMed Central, 2008, 16(2023), 1 vom: 16. März
Übergeordnetes Werk:	volume:16 ; year:2023 ; number:1 ; day:16 ; month:03

Links:	Volltext

DOI / URN:	10.1186/s12920-023-01483-1

Katalog-ID:	SPR049714201

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520			\|a Abstract Inborn errors of metabolism (IEM) can lead to severe motor and neurological developmental disorders and even disability and death in children due to untimely treatment. In this study, we used tandem mass spectrometry (MS/MS) for primary screening and recall of those with positive primary screening for rescreening. Further diagnosis was based on biochemical tests, imaging and clinical presentation as well as accurate genetic testing using multi-gene panel with high-throughput sequencing of 130 IEM-related genes. The screening population was 16,207 newborns born between July 1, 2019, and December 31, 2021. Based on the results, 8 newborns were diagnosed with IEM, constituting a detection rate of 1:2,026. Phenylketonuria was the most common form of IEM. In addition, seven genes associated with IEM were detected in these eight patients. All eight patients received standardized treatment starting in the neonatal period, and the follow-up results showed good growth and development. Therefore, our study suggests that MS/MS rescreening for IEM pathogenic variants in high-risk areas, combined with a sequencing validation strategy, can be highly effective in the early detection of affected children. This strategy, combined with early intervention, can be effective in preventing neonatal morbidity and improving population quality.
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allfields	10.1186/s12920-023-01483-1 doi (DE-627)SPR049714201 (SPR)s12920-023-01483-1-e DE-627 ger DE-627 rakwb eng He, Xiao verfasserin aut A retrospective analysis of MS/MS screening for IEM in high-risk areas 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Abstract Inborn errors of metabolism (IEM) can lead to severe motor and neurological developmental disorders and even disability and death in children due to untimely treatment. In this study, we used tandem mass spectrometry (MS/MS) for primary screening and recall of those with positive primary screening for rescreening. Further diagnosis was based on biochemical tests, imaging and clinical presentation as well as accurate genetic testing using multi-gene panel with high-throughput sequencing of 130 IEM-related genes. The screening population was 16,207 newborns born between July 1, 2019, and December 31, 2021. Based on the results, 8 newborns were diagnosed with IEM, constituting a detection rate of 1:2,026. Phenylketonuria was the most common form of IEM. In addition, seven genes associated with IEM were detected in these eight patients. All eight patients received standardized treatment starting in the neonatal period, and the follow-up results showed good growth and development. Therefore, our study suggests that MS/MS rescreening for IEM pathogenic variants in high-risk areas, combined with a sequencing validation strategy, can be highly effective in the early detection of affected children. This strategy, combined with early intervention, can be effective in preventing neonatal morbidity and improving population quality. Inborn errors of metabolism (dpeaa)DE-He213 Newborn screening (dpeaa)DE-He213 Tandem mass spectrometry (dpeaa)DE-He213 Genetic testing (dpeaa)DE-He213 Sequencing (dpeaa)DE-He213 Kuang, Juan aut Lai, Jiahong aut Huang, Jingxiong aut Wang, Yijin aut Lan, Guofeng aut Xie, Yingjun aut Shi, Xuekai aut Enthalten in BMC medical genomics London : BioMed Central, 2008 16(2023), 1 vom: 16. März (DE-627)559080824 (DE-600)2411865-5 1755-8794 nnns volume:16 year:2023 number:1 day:16 month:03 https://dx.doi.org/10.1186/s12920-023-01483-1 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 16 2023 1 16 03
spelling	10.1186/s12920-023-01483-1 doi (DE-627)SPR049714201 (SPR)s12920-023-01483-1-e DE-627 ger DE-627 rakwb eng He, Xiao verfasserin aut A retrospective analysis of MS/MS screening for IEM in high-risk areas 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Abstract Inborn errors of metabolism (IEM) can lead to severe motor and neurological developmental disorders and even disability and death in children due to untimely treatment. In this study, we used tandem mass spectrometry (MS/MS) for primary screening and recall of those with positive primary screening for rescreening. Further diagnosis was based on biochemical tests, imaging and clinical presentation as well as accurate genetic testing using multi-gene panel with high-throughput sequencing of 130 IEM-related genes. The screening population was 16,207 newborns born between July 1, 2019, and December 31, 2021. Based on the results, 8 newborns were diagnosed with IEM, constituting a detection rate of 1:2,026. Phenylketonuria was the most common form of IEM. In addition, seven genes associated with IEM were detected in these eight patients. All eight patients received standardized treatment starting in the neonatal period, and the follow-up results showed good growth and development. Therefore, our study suggests that MS/MS rescreening for IEM pathogenic variants in high-risk areas, combined with a sequencing validation strategy, can be highly effective in the early detection of affected children. This strategy, combined with early intervention, can be effective in preventing neonatal morbidity and improving population quality. Inborn errors of metabolism (dpeaa)DE-He213 Newborn screening (dpeaa)DE-He213 Tandem mass spectrometry (dpeaa)DE-He213 Genetic testing (dpeaa)DE-He213 Sequencing (dpeaa)DE-He213 Kuang, Juan aut Lai, Jiahong aut Huang, Jingxiong aut Wang, Yijin aut Lan, Guofeng aut Xie, Yingjun aut Shi, Xuekai aut Enthalten in BMC medical genomics London : BioMed Central, 2008 16(2023), 1 vom: 16. März (DE-627)559080824 (DE-600)2411865-5 1755-8794 nnns volume:16 year:2023 number:1 day:16 month:03 https://dx.doi.org/10.1186/s12920-023-01483-1 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 16 2023 1 16 03
allfields_unstemmed	10.1186/s12920-023-01483-1 doi (DE-627)SPR049714201 (SPR)s12920-023-01483-1-e DE-627 ger DE-627 rakwb eng He, Xiao verfasserin aut A retrospective analysis of MS/MS screening for IEM in high-risk areas 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Abstract Inborn errors of metabolism (IEM) can lead to severe motor and neurological developmental disorders and even disability and death in children due to untimely treatment. In this study, we used tandem mass spectrometry (MS/MS) for primary screening and recall of those with positive primary screening for rescreening. Further diagnosis was based on biochemical tests, imaging and clinical presentation as well as accurate genetic testing using multi-gene panel with high-throughput sequencing of 130 IEM-related genes. The screening population was 16,207 newborns born between July 1, 2019, and December 31, 2021. Based on the results, 8 newborns were diagnosed with IEM, constituting a detection rate of 1:2,026. Phenylketonuria was the most common form of IEM. In addition, seven genes associated with IEM were detected in these eight patients. All eight patients received standardized treatment starting in the neonatal period, and the follow-up results showed good growth and development. Therefore, our study suggests that MS/MS rescreening for IEM pathogenic variants in high-risk areas, combined with a sequencing validation strategy, can be highly effective in the early detection of affected children. This strategy, combined with early intervention, can be effective in preventing neonatal morbidity and improving population quality. Inborn errors of metabolism (dpeaa)DE-He213 Newborn screening (dpeaa)DE-He213 Tandem mass spectrometry (dpeaa)DE-He213 Genetic testing (dpeaa)DE-He213 Sequencing (dpeaa)DE-He213 Kuang, Juan aut Lai, Jiahong aut Huang, Jingxiong aut Wang, Yijin aut Lan, Guofeng aut Xie, Yingjun aut Shi, Xuekai aut Enthalten in BMC medical genomics London : BioMed Central, 2008 16(2023), 1 vom: 16. März (DE-627)559080824 (DE-600)2411865-5 1755-8794 nnns volume:16 year:2023 number:1 day:16 month:03 https://dx.doi.org/10.1186/s12920-023-01483-1 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 16 2023 1 16 03
allfieldsGer	10.1186/s12920-023-01483-1 doi (DE-627)SPR049714201 (SPR)s12920-023-01483-1-e DE-627 ger DE-627 rakwb eng He, Xiao verfasserin aut A retrospective analysis of MS/MS screening for IEM in high-risk areas 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Abstract Inborn errors of metabolism (IEM) can lead to severe motor and neurological developmental disorders and even disability and death in children due to untimely treatment. In this study, we used tandem mass spectrometry (MS/MS) for primary screening and recall of those with positive primary screening for rescreening. Further diagnosis was based on biochemical tests, imaging and clinical presentation as well as accurate genetic testing using multi-gene panel with high-throughput sequencing of 130 IEM-related genes. The screening population was 16,207 newborns born between July 1, 2019, and December 31, 2021. Based on the results, 8 newborns were diagnosed with IEM, constituting a detection rate of 1:2,026. Phenylketonuria was the most common form of IEM. In addition, seven genes associated with IEM were detected in these eight patients. All eight patients received standardized treatment starting in the neonatal period, and the follow-up results showed good growth and development. Therefore, our study suggests that MS/MS rescreening for IEM pathogenic variants in high-risk areas, combined with a sequencing validation strategy, can be highly effective in the early detection of affected children. This strategy, combined with early intervention, can be effective in preventing neonatal morbidity and improving population quality. Inborn errors of metabolism (dpeaa)DE-He213 Newborn screening (dpeaa)DE-He213 Tandem mass spectrometry (dpeaa)DE-He213 Genetic testing (dpeaa)DE-He213 Sequencing (dpeaa)DE-He213 Kuang, Juan aut Lai, Jiahong aut Huang, Jingxiong aut Wang, Yijin aut Lan, Guofeng aut Xie, Yingjun aut Shi, Xuekai aut Enthalten in BMC medical genomics London : BioMed Central, 2008 16(2023), 1 vom: 16. März (DE-627)559080824 (DE-600)2411865-5 1755-8794 nnns volume:16 year:2023 number:1 day:16 month:03 https://dx.doi.org/10.1186/s12920-023-01483-1 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 16 2023 1 16 03
allfieldsSound	10.1186/s12920-023-01483-1 doi (DE-627)SPR049714201 (SPR)s12920-023-01483-1-e DE-627 ger DE-627 rakwb eng He, Xiao verfasserin aut A retrospective analysis of MS/MS screening for IEM in high-risk areas 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2023 Abstract Inborn errors of metabolism (IEM) can lead to severe motor and neurological developmental disorders and even disability and death in children due to untimely treatment. In this study, we used tandem mass spectrometry (MS/MS) for primary screening and recall of those with positive primary screening for rescreening. Further diagnosis was based on biochemical tests, imaging and clinical presentation as well as accurate genetic testing using multi-gene panel with high-throughput sequencing of 130 IEM-related genes. The screening population was 16,207 newborns born between July 1, 2019, and December 31, 2021. Based on the results, 8 newborns were diagnosed with IEM, constituting a detection rate of 1:2,026. Phenylketonuria was the most common form of IEM. In addition, seven genes associated with IEM were detected in these eight patients. All eight patients received standardized treatment starting in the neonatal period, and the follow-up results showed good growth and development. Therefore, our study suggests that MS/MS rescreening for IEM pathogenic variants in high-risk areas, combined with a sequencing validation strategy, can be highly effective in the early detection of affected children. This strategy, combined with early intervention, can be effective in preventing neonatal morbidity and improving population quality. Inborn errors of metabolism (dpeaa)DE-He213 Newborn screening (dpeaa)DE-He213 Tandem mass spectrometry (dpeaa)DE-He213 Genetic testing (dpeaa)DE-He213 Sequencing (dpeaa)DE-He213 Kuang, Juan aut Lai, Jiahong aut Huang, Jingxiong aut Wang, Yijin aut Lan, Guofeng aut Xie, Yingjun aut Shi, Xuekai aut Enthalten in BMC medical genomics London : BioMed Central, 2008 16(2023), 1 vom: 16. März (DE-627)559080824 (DE-600)2411865-5 1755-8794 nnns volume:16 year:2023 number:1 day:16 month:03 https://dx.doi.org/10.1186/s12920-023-01483-1 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 16 2023 1 16 03
language	English
source	Enthalten in BMC medical genomics 16(2023), 1 vom: 16. März volume:16 year:2023 number:1 day:16 month:03
sourceStr	Enthalten in BMC medical genomics 16(2023), 1 vom: 16. März volume:16 year:2023 number:1 day:16 month:03
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Inborn errors of metabolism Newborn screening Tandem mass spectrometry Genetic testing Sequencing
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container_title	BMC medical genomics
authorswithroles_txt_mv	He, Xiao @@aut@@ Kuang, Juan @@aut@@ Lai, Jiahong @@aut@@ Huang, Jingxiong @@aut@@ Wang, Yijin @@aut@@ Lan, Guofeng @@aut@@ Xie, Yingjun @@aut@@ Shi, Xuekai @@aut@@
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author	He, Xiao
spellingShingle	He, Xiao misc Inborn errors of metabolism misc Newborn screening misc Tandem mass spectrometry misc Genetic testing misc Sequencing A retrospective analysis of MS/MS screening for IEM in high-risk areas
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topic_title	A retrospective analysis of MS/MS screening for IEM in high-risk areas Inborn errors of metabolism (dpeaa)DE-He213 Newborn screening (dpeaa)DE-He213 Tandem mass spectrometry (dpeaa)DE-He213 Genetic testing (dpeaa)DE-He213 Sequencing (dpeaa)DE-He213
topic	misc Inborn errors of metabolism misc Newborn screening misc Tandem mass spectrometry misc Genetic testing misc Sequencing
topic_unstemmed	misc Inborn errors of metabolism misc Newborn screening misc Tandem mass spectrometry misc Genetic testing misc Sequencing
topic_browse	misc Inborn errors of metabolism misc Newborn screening misc Tandem mass spectrometry misc Genetic testing misc Sequencing
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title	A retrospective analysis of MS/MS screening for IEM in high-risk areas
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title_full	A retrospective analysis of MS/MS screening for IEM in high-risk areas
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author_browse	He, Xiao Kuang, Juan Lai, Jiahong Huang, Jingxiong Wang, Yijin Lan, Guofeng Xie, Yingjun Shi, Xuekai
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title_sort	retrospective analysis of ms/ms screening for iem in high-risk areas
title_auth	A retrospective analysis of MS/MS screening for IEM in high-risk areas
abstract	Abstract Inborn errors of metabolism (IEM) can lead to severe motor and neurological developmental disorders and even disability and death in children due to untimely treatment. In this study, we used tandem mass spectrometry (MS/MS) for primary screening and recall of those with positive primary screening for rescreening. Further diagnosis was based on biochemical tests, imaging and clinical presentation as well as accurate genetic testing using multi-gene panel with high-throughput sequencing of 130 IEM-related genes. The screening population was 16,207 newborns born between July 1, 2019, and December 31, 2021. Based on the results, 8 newborns were diagnosed with IEM, constituting a detection rate of 1:2,026. Phenylketonuria was the most common form of IEM. In addition, seven genes associated with IEM were detected in these eight patients. All eight patients received standardized treatment starting in the neonatal period, and the follow-up results showed good growth and development. Therefore, our study suggests that MS/MS rescreening for IEM pathogenic variants in high-risk areas, combined with a sequencing validation strategy, can be highly effective in the early detection of affected children. This strategy, combined with early intervention, can be effective in preventing neonatal morbidity and improving population quality. © The Author(s) 2023
abstractGer	Abstract Inborn errors of metabolism (IEM) can lead to severe motor and neurological developmental disorders and even disability and death in children due to untimely treatment. In this study, we used tandem mass spectrometry (MS/MS) for primary screening and recall of those with positive primary screening for rescreening. Further diagnosis was based on biochemical tests, imaging and clinical presentation as well as accurate genetic testing using multi-gene panel with high-throughput sequencing of 130 IEM-related genes. The screening population was 16,207 newborns born between July 1, 2019, and December 31, 2021. Based on the results, 8 newborns were diagnosed with IEM, constituting a detection rate of 1:2,026. Phenylketonuria was the most common form of IEM. In addition, seven genes associated with IEM were detected in these eight patients. All eight patients received standardized treatment starting in the neonatal period, and the follow-up results showed good growth and development. Therefore, our study suggests that MS/MS rescreening for IEM pathogenic variants in high-risk areas, combined with a sequencing validation strategy, can be highly effective in the early detection of affected children. This strategy, combined with early intervention, can be effective in preventing neonatal morbidity and improving population quality. © The Author(s) 2023
abstract_unstemmed	Abstract Inborn errors of metabolism (IEM) can lead to severe motor and neurological developmental disorders and even disability and death in children due to untimely treatment. In this study, we used tandem mass spectrometry (MS/MS) for primary screening and recall of those with positive primary screening for rescreening. Further diagnosis was based on biochemical tests, imaging and clinical presentation as well as accurate genetic testing using multi-gene panel with high-throughput sequencing of 130 IEM-related genes. The screening population was 16,207 newborns born between July 1, 2019, and December 31, 2021. Based on the results, 8 newborns were diagnosed with IEM, constituting a detection rate of 1:2,026. Phenylketonuria was the most common form of IEM. In addition, seven genes associated with IEM were detected in these eight patients. All eight patients received standardized treatment starting in the neonatal period, and the follow-up results showed good growth and development. Therefore, our study suggests that MS/MS rescreening for IEM pathogenic variants in high-risk areas, combined with a sequencing validation strategy, can be highly effective in the early detection of affected children. This strategy, combined with early intervention, can be effective in preventing neonatal morbidity and improving population quality. © The Author(s) 2023
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title_short	A retrospective analysis of MS/MS screening for IEM in high-risk areas
url	https://dx.doi.org/10.1186/s12920-023-01483-1
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author2	Kuang, Juan Lai, Jiahong Huang, Jingxiong Wang, Yijin Lan, Guofeng Xie, Yingjun Shi, Xuekai
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A retrospective analysis of MS/MS screening for IEM in high-risk areas

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