scholarly journals Editorial: Newborn Screening for Inborn Errors of Metabolism: Is It Time for a Globalized Perspective Based on Genetic Screening?

2021 ◽  
Vol 12 ◽  
Author(s):  
Mohamed A. Elmonem ◽  
Lambertus P. van den Heuvel
Keyword(s):  
Newborn Screening ◽  
Genetic Screening ◽  
Inborn Errors Of Metabolism ◽  
Inborn Errors

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.

scholarly journals The Importance of Early Detection of Genetic Diseases

2021 ◽  
Vol 4 (2) ◽  
pp. 133-141
Author(s):  
Suma Elcy Varghese ◽  
Rana Hassan Mohammad El Otol ◽  
Fatma Sultan Al Olama ◽  
Salah Ahmad Mohamed Elbadawi
Keyword(s):  
Early Detection ◽  
Newborn Screening ◽  
Health Authority ◽  
Genetic Screening ◽  
Screening Program ◽  
Genetic Disorders ◽  
Genetic Diseases ◽  
Inborn Errors ◽  
The Usa ◽  
Premarital Screening

<b><i>Background:</i></b> Early detection of diseases in newborn may help in early intervention and treatment, which may either cure the disease or improve the outcome of the patient. Dubai’s Health Authority has a newborn screening program which includes screening for metabolic and genetic conditions, for hearing and vision, and for congenital heart disease. <b><i>Objectives:</i></b> The objectives of this study are to assess the outcome of the newborn genetic screening program, to correlate the association between the outcome of the program and demographic variables and to find out the percentage of the number of infants who were confirmed to have the genetic disease (by confirmatory tests) out of the total infants who had positive screening test results. <b><i>Methods:</i></b> During the period of the study from January 2018 to December 2018, a total of 7,027 newborns were tested in Dubai Health Authority facilities by the newborn genetic screening program (known as the “Step One Screening”). Blood samples were collected by heel prick on a collection paper. All samples were transported to PerkinElmer Genomics in the USA where the tests were done. The genetic disorders identified were correlated with different variables like gender and nationality. The data were entered in an excel sheet and analyzed by using SPSS software. All infants aged 0–3 months who have done newborn genetic screening at Dubai Health Authority facilities between January and December 2018 were included. <b><i>Results:</i></b> The incidence of screened disorders was 1:7,027 for congenital adrenal hyperplasia, 1:1,757 for congenital hypothyroidism, 1:1,757 for inborn errors of metabolism, 1:2,342 for biotinidase deficiency, 1:1,171 for hemoglobinopathies, 1:12 for hemoglobinopathy traits, and 1:10 for different genetic mutations of G6PD deficiency. <b><i>Conclusions:</i></b> There is a high incidence of different genetic diseases detected by newborn screening. These results justify unifying the program in the UAE and preventive programs like premarital screening and genetic counseling.

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

Newborn Screening for Certain Treatable Inborn Errors of Metabolism in Alexandria

2005 ◽  
Vol 35 (3) ◽  
pp. 537-546
Author(s):  
Ebtesam Abdallah ◽  
Suzan Ismail ◽  
Nawal El-Sayed ◽  
Mervat Hashish ◽  
Amina El-Gezeery
Keyword(s):  
Newborn Screening ◽  
Inborn Errors Of Metabolism ◽  
Inborn Errors

Incidence of inborn errors of metabolism detected by tandem mass spectrometry in China: A census of over seven million newborns between 2016 and 2017

2020 ◽  
pp. 096914132097369
Author(s):  
Kui Deng ◽  
Jun Zhu ◽  
Erling Yu ◽  
Liangcheng Xiang ◽  
Xuelian Yuan ◽  
...  
Keyword(s):  
Confidence Interval ◽  
Newborn Screening ◽  
Mass Spectroscopy ◽  
Inborn Errors Of Metabolism ◽  
Mainland China ◽  
Tandem Mass ◽  
Inborn Errors ◽  
Tandem Mass Spectroscopy ◽  
Geographical Locations ◽  
Disease Specific

Background The incidence of inborn errors of metabolism varies widely across countries. Very few studies have analyzed the incidence of these disorders in Mainland China. We aimed to estimate the overall and disease-specific incidences of inborn errors of metabolism in Chinese newborns and investigate the geographical distribution of these disorders. Methods A national cross-sectional survey was conducted to investigate newborn inborn errors of metabolism screening by tandem mass spectroscopy in Mainland China between 2016 and 2017. A total of 246 newborn screening centers were surveyed using a standardized questionnaire. We examined the cumulative and disease-specific incidences of inborn errors of metabolism in Mainland China as a whole and in different geographical locations. Results Over 7 million newborns were screened and 2747 were diagnosed with inborn errors of metabolism, yielding an overall incidence of 38.69 per 100,000 births (95% confidence interval: 37.27–40.17). The most common disorders were amino acid disorders (17.14 per 100,000 births, 95% confidence interval: 16.21–18.13), followed by organic acid disorders (12.39 per 100,000 births, 95% confidence interval: 11.60–13.24) and fatty acid oxidation disorders (9.16 per 100,000 births, 95% confidence interval: 8.48–9.89). The overall and disease-specific incidence rates differed significantly across geographical locations (P < 0.001). Conclusions The overall incidence of inborn errors of metabolism in Chinese newborns is relatively high. It is urgent to establish the recommended uniform screening panel for inborn errors of metabolism to guide the national and regional tandem mass spectroscopy newborn screening programs.

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