Dataset Information

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.

ABSTRACT: Newborn screening (NBS) for inborn errors of metabolism is one of the most advanced tools for secondary prevention in medicine, as it allows early diagnosis and prompt treatment initiation. The expanded newborn screening was introduced in Italy between 2016 and 2017 (Law 167/2016; DM 13 October 2016; DPCM 12-1-2017). A total of 1,586,578 infants born in Italy were screened between January 2017 and December 2020. For this survey, we collected data from 15 Italian screening laboratories, focusing on the metabolic disorders identified by tandem mass spectrometry (MS/MS) based analysis between January 2019 and December 2020. Aminoacidemias were the most common inborn errors in Italy, and an equal percentage was observed in detecting organic acidemias and mitochondrial fatty acids beta-oxidation defects. Second-tier tests are widely used in most laboratories to reduce false positives. For example, second-tier tests for methylmalonic acid and homocysteine considerably improved the screening of CblC without increasing unnecessary recalls. Finally, the newborn screening allowed us to identify conditions that are mainly secondary to a maternal deficiency. We describe the goals reached since the introduction of the screening in Italy by exchanging knowledge and experiences among the laboratories.

SUBMITTER: Ruoppolo M

PROVIDER: S-EPMC9397032 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature

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Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.

Ruoppolo Margherita M Malvagia Sabrina S Boenzi Sara S Carducci Carla C Dionisi-Vici Carlo C Teofoli Francesca F Burlina Alberto A Angeloni Antonio A Aronica Tommaso T Bordugo Andrea A Bucci Ines I Camilot Marta M Carbone Maria Teresa MT Cardinali Roberta R Carducci Claudia C Cassanello Michela M Castana Cinzia C Cazzorla Chiara C Ciatti Renzo R Ferrari Simona S Frisso Giulia G Funghini Silvia S Furlan Francesca F Gasperini Serena S Gragnaniello Vincenza V Guzzetti Chiara C La Marca Giancarlo G La Spina Luisa L Lorè Tania T Meli Concetta C Messina MariaAnna M Morrone Amelia A Nardecchia Francesca F Ortolano Rita R Parenti Giancarlo G Pavanello Enza E Pieragostino Damiana D Pillai Sara S Porta Francesco F Righetti Francesca F Rossi Claudia C Rovelli Valentina V Salina Alessandro A Santoro Laura L Sauro Pina P Schiaffino Maria Cristina MC Simonetti Simonetta S Vincenzi Monica M Tarsi Elisabetta E Uccheddu Anna Paola AP

International journal of neonatal screening 20220809 3

Newborn screening (NBS) for inborn errors of metabolism is one of the most advanced tools for secondary prevention in medicine, as it allows early diagnosis and prompt treatment initiation. The expanded newborn screening was introduced in Italy between 2016 and 2017 (Law 167/2016; DM 13 October 2016; DPCM 12-1-2017). A total of 1,586,578 infants born in Italy were screened between January 2017 and December 2020. For this survey, we collected data from 15 Italian screening laboratories, focusing ...[more]

PMID: 35997437

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Project description:Expanded newborn screening for inborn errors of metabolism (IEMs) by tandem mass spectrometry (MS/MS) could simultaneously analyze more than 40 metabolites and identify about 50 kinds of IEMs. Next generation sequencing (NGS) targeting hundreds of IMEs-associated genes as a follow-up test in expanded newborn screening has been used for genetic analysis of patients. The spectrum, prevalence, and genetic characteristic of IEMs vary dramatically in different populations. To determine the spectrum, prevalence, and gene mutations of IEMs in newborns in Suzhou, China, 401,660 newborns were screened by MS/MS and 138 patients were referred to genetic analysis by NGS. The spectrum of 22 IEMs were observed in Suzhou population of newborns, and the overall incidence (excluding short chain acyl-CoA dehydrogenase deficiency (SCADD) and 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCCD)) was 1/3,163. The prevalence of each IEM ranged from 1/401,660 to 1/19,128, while phenylketonuria (PKU) (1/19,128) and Mild hyperphenylalaninemia (M-HPA) (1/19,128) were the most common IEMs, followed by primary carnitine uptake defect (PCUD) (1/26,777), SCADD (1/28,690), hypermethioninemia (H-MET) (1/30,893), 3-MCCD (1/33,412) and methylmalonic acidemia (MMA) (1/40,166). Moreover, 89 reported mutations and 51 novel mutations in 25 IMEs-associated genes were detected in 138 patients with one of 22 IEMs. Some hotspot mutations were observed for ten IEMs, including PAH gene c.728G > A, c.611A > G, and c.721C > T for Phenylketonuria, PAH gene c.158G > A, c.1238G > C, c.728G > A, and c.1315+6T > A for M-HPA, SLC22A5 gene c.1400C > G, c.51C > G, and c.760C > T for PCUD, ACADS gene c.1031A > G, c.164C > T, and c.1130C > T for SCAD deficiency, MAT1A gene c.791G > A for H-MET, MCCC1 gene c.639+2T > A and c.863A > G for 3-MCCD, MMUT gene c.1663G > A for MMA, SLC25A13 gene c.IVS16ins3Kb and c.852_855delTATG for cittrullinemia II, PTS gene c.259C > T and c.166G > A for Tetrahydrobiopterin deficiency, and ACAD8 gene c.1000C > T and c.286C > A for Isobutyryl coa dehydrogenase deficiency. All these hotspot mutations were reported to be pathogenic or likely pathogenic, except a novel mutation of ACAD8 gene c.286C > A. These mutational hotspots could be potential candidates for gene screening and these novel mutations expanded the mutational spectrum of IEMs. Therefore, our findings could be of value for genetic counseling and genetic diagnosis of IEMs.

Dataset Information

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.

Publications

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.

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