意大利扩大新生儿筛查：伦巴第大区的首份报告。

Expanded Newborn Screening in Italy: The First Report of Lombardy Region.

作者信息

Berardo Clarissa, Vasco Alessandra, Mauri Alessia, Lucchi Simona, Cappelletti Laura, Saielli Laura, Rizzetto Manuela, Biganzoli Davide, Montrasio Cristina, Postorivo Diana, Pratiffi Elisa, Meta Andrea, Carelli Stephana, Amorosi Alessandro, Paci Sabrina, Cefalo Graziella, Furlan Francesca, Menni Francesca, Gasperini Serena, Crescitelli Viola, Banderali Giuseppe, Zuccotti Gianvincenzo, Alberti Luisella, Cereda Cristina

机构信息

Pediatric Research Center "Romeo ed Enrica Invernizzi", Department of Biomedical and Clinical Sciences, University of Milan, 20157 Milan, Italy.

Center of Functional Genomics and Rare diseases, Department of Pediatrics, Buzzi Children's Hospital, 20154 Milan, Italy.

出版信息

Int J Neonatal Screen. 2025 Apr 25;11(2):31. doi: 10.3390/ijns11020031.

DOI:10.3390/ijns11020031

PMID:40407514

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12101260/

Abstract

BACKGROUND

Newborn screening (NBS) is a preventive healthcare program aiming at identifying the inborn errors of metabolism (IEMs) in asymptomatic infants to reduce the risk of severe complications. The aim of this study was to report the first years (2016-2020) of the expanded NBS program in the Lombardy region, Italy.

METHODS

Dried blood spots were collected from newborns' heels at 48-72 h after birth. FIA-MS/MS was performed to evaluate specific biochemical markers. Genetic confirmation was achieved via Sanger or NGS on newborns and reported to a clinical reference center (CRC).

RESULTS

A total of 343,507 newborns were tested; 1414/343,507 resulted as positive to NBS and were reported to the CRC. A total of 209 newborns were diagnosed with IEMs: 206 infants received a diagnosis of IEM through NBS, confirmed by genetic analysis; three neonates were not positive to NBS but were subsequentially diagnosed with IEMs. A total of 1208/343,507 were false positive cases. Twenty-seven types of IEMs were diagnosed in 209 patients: 111 newborns were affected by aminoacidemias, 11 by urea cycle disorders, 27 by organic acidemias, 34 by fatty acid oxidation disorders, and 26 by secondary conditions.

CONCLUSIONS

We report here for the first time the IEM incidence and distribution in the Lombardy region in the first five years of NBS.

摘要

背景

新生儿筛查（NBS）是一项预防性医疗保健计划，旨在识别无症状婴儿的先天性代谢缺陷（IEMs），以降低严重并发症的风险。本研究的目的是报告意大利伦巴第地区扩大新生儿筛查计划的头几年（2016 - 2020年）情况。

方法

在出生后48 - 72小时从新生儿足跟采集干血斑。采用荧光免疫分析串联质谱法（FIA - MS/MS）评估特定生化标志物。通过对新生儿进行桑格测序或二代测序（NGS）实现基因确认，并报告给临床参考中心（CRC）。

结果

共检测了343,507名新生儿；其中1414/343,507名新生儿筛查结果为阳性，并报告给了临床参考中心。共有209名新生儿被诊断为患有先天性代谢缺陷：206名婴儿通过新生儿筛查被诊断为先天性代谢缺陷，并经基因分析确认；3名新生儿筛查结果为阴性，但随后被诊断为患有先天性代谢缺陷。共有1208/343,507例为假阳性病例。209例患者被诊断出27种类型的先天性代谢缺陷：111名新生儿患有氨基酸血症，11名患有尿素循环障碍，27名患有有机酸血症，34名患有脂肪酸氧化障碍，26名患有继发性疾病。