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      Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders : Saudi Newborn Screening Program

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          To address the implementation of the National Newborn Screening Program (NBS) in Saudi Arabia and stratify the incidence of the screened disorders.

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          Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry.

          Acylcarnitine profiling from blood or plasma samples by electrospray tandem mass spectrometry (ESI-MS/MS) has been recognized recently as a useful tool in the biochemical diagnosis of propionic acidemia, methylmalonic acidemia together with short-chain and medium-chain acyl-CoA dehydrogenase deficiencies. In the current study, we have investigated the diagnostic capabilities of ESI-MS/MS in other types of organic acidemias and amino acid catabolism disorders. Using multiple scanning functions, we examined the potential for the simultaneous profiling of both acylcarnitines and amino acids, in each of the samples. Our method was found to be specific and accurate; allowing quantification of acylcarnitines and amino acids well below, and significantly above, published normal levels. Complete automation of sample introduction has been achieved, allowing the analysis of up to 200 samples in one injection sequence, at a rate of one sample every 3 min, with excellent separation between successive injections. In our hands, this method permits screening for 20 organic acid and amino acid disorders, using a single sample injection. In our laboratory, more than 2000 blood samples have been analyzed, and 52 new cases were diagnosed by this method. We also confirmed the diagnosis of another 75 previously known cases.
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            Clinical applications of tandem mass spectrometry: ten years of diagnosis and screening for inherited metabolic diseases

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              Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles.

              Metabolic profiling of amino acids and acylcarnitines from blood spots by automated electrospray tandem mass spectrometry (ESI-MS/MS) is a powerful diagnostic tool for inborn errors of metabolism. New approaches to sample preparation and data interpretation have helped establish the methodology as a robust, high-throughput neonatal screening method. We introduce an efficient 96-well-microplate batch process for blood-spot sample preparation, with which we can obtain high-quality profiles from 500-1000 samples per day per instrument. A computer-assisted metabolic profiling algorithm automatically flags abnormal profiles. We selected diagnostic parameters for the algorithm by comparing profiles from patients with known metabolic disorders and those from normal newborns. Reference range and cutoff values for the diagnostic parameters were established by measuring either metabolite concentrations or peak ratios of certain metabolite pairs. Rigorous testing of the algorithm demonstrates its outstanding clinical sensitivity in flagging abnormal profiles and its high cumulative specificity.

                Author and article information

                Journal of Paediatrics and Child Health
                J Paediatr Child Health
                June 2017
                June 2017
                March 24 2017
                : 53
                : 6
                : 585-591
                [1 ]Department of Pediatrics; King Abdulaziz Medical City; Riyadh Saudi Arabia
                [2 ]King Saud bin Abdulaziz University for Health Sciences; King Abdulaziz Medical City; Riyadh Saudi Arabia
                [3 ]Ministry of National Guard-Health Affairs (NGHA); Riyadh Saudi Arabia
                [4 ]Department of Pathology; King Abdulaziz Medical City; Riyadh Saudi Arabia
                [5 ]Department of Medical Genetics; King Faisal Specialist Hospital and Research Center; Riyadh Saudi Arabia
                [6 ]The National Newborn Screening Program; Ministry of Health; Riyadh Saudi Arabia
                [7 ]Noncommunicable Disease; Ministry of Health; Riyadh Saudi Arabia
                [8 ]Medical Genetic Section; King Fahad Medical City, Children's Hospital; Riyadh Saudi Arabia
                [9 ]Armed Forces Medical Services Directorate; Riyadh Saudi Arabia
                [10 ]Department of Pediatrics; Security Forces Hospital; Riyadh Saudi Arabia
                [11 ]Faculty of Medicine and Health Sciences; United Arab Emirates University; Al-Ain UAE
                [12 ]Children Hospital of Eastern Ontario Research Institute; Ottawa Canada
                [13 ]Pharmagene Lab; Cairo Egypt
                [14 ]Research Center; Ministry of Health; Riyadh Saudi Arabia
                [15 ]King Salman Center for Disability Research; Riyadh Saudi Arabia
                © 2017





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