scholarly journals Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Ruixue Zhang ◽  
Rong Qiang ◽  
Chengrong Song ◽  
Xiaoping Ma ◽  
Yan Zhang ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Inborn Errors Of Metabolism ◽  
Northwest China ◽  
Methylmalonic Acidemia ◽  
Shaanxi Province ◽  
Inborn Errors ◽  
Organic Acidurias ◽  
Genetic Characteristics ◽  
Disease Spectrum ◽  
Expanded Newborn Screening

AbstractExpanded newborn screening facilitates early identification and intervention of patients with inborn errors of metabolism (IEMs), There is a lack of disease spectrum data for many areas in China. To determine the disease spectrum and genetic characteristics of IEMs in Xi'an city of Shaanxi province in northwest China, 146152 newborns were screening by MSMS from January 2014 to December 2019 and 61 patients were referred to genetic analysis by next generation sequencing (NGS) and validated by Sanger sequencing. Seventy-five newborns and two mothers were diagnosed with IEMs, with an overall incidence of 1:1898 (1:1949 without mothers). There were 35 newborns with amino acidemias (45.45%, 1:4176), 28 newborns with organic acidurias (36.36%, 1:5220), and 12 newborns and two mothers with FAO disorders (18.18%; 1:10439 or 1:12179 without mothers). Phenylketonuria and methylmalonic acidemia were the two most common disorders, accounting for 65.33% (49/75) of all confirmed newborn. Some hotspot mutations were observed for several IEMs, including PAH gene c.728G>A for phenylketonuria; MMACHC gene c.609G>A and c.567dupT, MMUT gene c.323G>A for methylmalonic acidemia and SLC25A13 gene c.852_855del for citrin deficiency. Our study provides effective clinical guidance for the popularization and application of expanded newborn screening, genetic screening, and genetic counseling of IEMs in this region.

The first territory-wide expanded newborn screening for inborn errors of metabolism in Hong Kong: a pilot study

Pathology ◽  
2017 ◽  
Vol 49 ◽  
pp. S98 ◽  
Author(s):  
Ching-wan Lam ◽  
Chun-yiu Law ◽  
Chloe Miu Mak ◽  
Wai-kwan Siu ◽  
Hencher Han-Chih Lee ◽  
...  
Keyword(s):  
Hong Kong ◽  
Pilot Study ◽  
Newborn Screening ◽  
Inborn Errors Of Metabolism ◽  
Inborn Errors ◽  
Expanded Newborn Screening

scholarly journals Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

2020 ◽  
Vol 6 (3) ◽  
pp. 51 ◽  
Author(s):  
Trine Tangeraas ◽  
Ingjerd Sæves ◽  
Claus Klingenberg ◽  
Jens Jørgensen ◽  
Erle Kristensen ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Good Health ◽  
Dried Blood Spots ◽  
Case Definitions ◽  
Inborn Errors ◽  
Disease Spectrum ◽  
Expanded Newborn Screening ◽  
Second Tier ◽  
Biochemical Testing

In 2012, the Norwegian newborn screening program (NBS) was expanded (eNBS) from screening for two diseases to that for 23 diseases (20 inborn errors of metabolism, IEMs) and again in 2018, to include a total of 25 conditions (21 IEMs). Between 1 March 2012 and 29 February 2020, 461,369 newborns were screened for 20 IEMs in addition to phenylketonuria (PKU). Excluding PKU, there were 75 true-positive (TP) (1:6151) and 107 (1:4311) false-positive IEM cases. Twenty-one percent of the TP cases were symptomatic at the time of the NBS results, but in two-thirds, the screening result directed the exact diagnosis. Eighty-two percent of the TP cases had good health outcomes, evaluated in 2020. The yearly positive predictive value was increased from 26% to 54% by the use of the Region 4 Stork post-analytical interpretive tool (R4S)/Collaborative Laboratory Integrated Reports 2.0 (CLIR), second-tier biochemical testing and genetic confirmation using DNA extracted from the original dried blood spots. The incidence of IEMs increased by 46% after eNBS was introduced, predominantly due to the finding of attenuated phenotypes. The next step is defining which newborns would truly benefit from screening at the milder end of the disease spectrum. This will require coordinated international collaboration, including proper case definitions and outcome studies.

Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing

2020 ◽  
Vol 33 (5) ◽  
pp. 639-645
Author(s):  
Nan Yang ◽  
Li-fei Gong ◽  
Jin-qi Zhao ◽  
Hai-he Yang ◽  
Zhi-jun Ma ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Genetic Analysis ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Inborn Errors Of Metabolism ◽  
Propionic Acidemia ◽  
Methylmalonic Acidemia ◽  
Tandem Mass ◽  
Inborn Errors ◽  
Screening Programs

AbstractBackgroundIndividual inborn errors of metabolism (IEMs) are rare disorders. Expanded newborn screening for IEMs by tandem mass spectrometry (TMS) is an efficient approach for early diagnosis. Here we provide the newborn screening program for the application of this approach (between July 2014 and March 2019) to the identification of newborns in Beijing at risk of developing a potentially fatal disease.MethodsThe amino acids and acylcarnitines in dried blood spots were analyzed by TMS. Diagnoses of newborns with elevated metabolites were confirmed by gas chromatography-mass spectrometry, biochemical studies, and genetic analysis.ResultsAmong the healthy newborns, 16 metabolic disorder cases were confirmed, giving a total birth prevalence of 1:3666 live births. Organic acidemia (OA) was the most common (9/16 patients; 56%), and methylmalonic acidemia was the most frequently observed OA (7/9 patients; 89%). Five infants were diagnosed with methylmalonic acidemia with homocystinuria type CblC, two with isolated methylmalonic acidemia, one with propionic acidemia, and one with isovaleric acidemia. Four patients (4/16, 25%) were diagnosed with hyperphenylalaninemia. One suffered with medium-chain acyl CoA dehydrogenase deficiency, one with carnitine uptake deficiency, and one with citrin deficiency. Eleven cases underwent genetic analysis. Seventeen mutations in eight IEM-associated genes were identified in 11 confirmed cases. Symptoms were already present within 2 days after birth in 44% (7/16) cases. The infant with propionic acidemia died at 7 days after birth. The other cases received timely diagnosis and treatment, and most of them grew well.ConclusionsThe results illustrate challenges encountered in disease management highlighting the importance of newborn screening for inherited metabolic disorders, which is not yet nationally available in our country. Regional newborn screening programs will provide a better estimation of the incidence of IEM.

Expanded Newborn Screening for Inborn Errors of Metabolism

2012 ◽  
Vol 59 (1) ◽  
pp. 209-245 ◽  
Author(s):  
Angela Sun ◽  
Christina Lam ◽  
Derek A. Wong
Keyword(s):  
Newborn Screening ◽  
Inborn Errors Of Metabolism ◽  
Inborn Errors ◽  
Expanded Newborn Screening
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