scholarly journals First Results From Expanded Newborn Screening in slovak Republic

2014 ◽  
Vol 61 (1) ◽  
Author(s):  
S. Dluholucký ◽  
M. Knapková ◽  
M. Záhorcová
Keyword(s):  
Newborn Screening ◽  
Metabolic Disorders ◽  
Slovak Republic ◽  
Blood Samples ◽  
Inherited Metabolic Disorders ◽  
Expanded Newborn Screening ◽  
First Results ◽  
The One ◽  
Cpt I ◽  
Suspected Diagnosis

AbstractA one-and-a-half year experience with expanded newborn screening (ENBS) in Slovakia provided by means of tandem mass spectrometry (LC-MS/MS) is presented.Method ENBS was realised from dry blood samples of the regular NBS in National Screening Centre SK. The LC-MS/MS software used allowed evaluating even 73 analytes in MRM mode after cut-of limits in 99 percentile of daily values. The regular ENBS was oriented to 10 inherited metabolic disorders (IMDs), organic acids and carnitine defects (PKU/HPA, MSUD, GAI, IVA, MCAD, LCHAD, SCAD, CPT I, CPT II, CACT). Except these, many other variations of results were registered in perimeter of the method. They were individually evaluated until the confrmation or exclusion of the suspected diagnosis.Results During the one-and-a-half years, 82 892 newborns were evaluated by ENBS and 34 positive cases of IMDs were detected and confrmed, which represents a screening prevalence of 1:2438 newborns. Out of these, 24 cases were from regular ENBS (PKU/HPA, MSUD, MCAD) with an incidence of 1:3 454, and 10 additional cases at the periphery of LC-MS/MS evaluation with a prevalence of 1:8 286.Conclusion Preliminary experience and results with ENBS confrmed its high efectiveness not only in 10 IMDs included in regular ENBS, but also at perimeter of LC-MS/MS method, in which it is possible to detect additional IMDs not included in regular spectrum of ENBS. This group comprised 29% of all cases. In general, the prevalence is comparable with PKU and/or CAH.

scholarly journals Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese Population

2022 ◽  
Vol 12 ◽  
Author(s):  
Xia Li ◽  
Jun He ◽  
Ling He ◽  
Yudong Zeng ◽  
Xuzhen Huang ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Incidence Rate ◽  
Intellectual Development ◽  
Metabolic Disorders ◽  
Carnitine Deficiency ◽  
Acid Oxidation ◽  
Abnormal Growth ◽  
Inherited Metabolic Disorders ◽  
Expanded Newborn Screening ◽  
Confirmatory Tests

Neonatal inherited metabolic disorders (IMDs) are closely associated with early neonatal death and abnormal growth and development. Increasing attention has been paid to IMDs because of their high incidence and diversity. However, there are no reports about the incidence of IMDs in Changsha, China. Therefore, we retrospectively analyzed the screening results of neonates to evaluate the characteristics of IMDs in the area. From January 2016 to December 2020, 300,849 neonates were enrolled for expanded newborn screening by tandem mass spectrometry in the Neonatal Disease Screening Center of the Changsha Hospital for Maternal & Child Health Care. Newborns with mild initial results were recalled for repeated tests; if the second test was still positive, the patient was referred for confirmatory tests. A total of 71 confirmed cases were identified in our study, with an incidence rate of 1:4,237. There were 28 cases of amino acid metabolic disorders, representing 39.44% of the IMDs diagnosed, with an incidence rate of 1:10,745. Twelve newborns were diagnosed with organic acid metabolic disorders, accounting for 16.66% of IMDs, with an incidence rate of 1:25,071. There were 31 cases of fatty acid oxidation disorders, representing 43.05% of IMDs, with an incidence rate of 1:9,705. Overall, 14 types of IMDs were found in Changsha. The most common disorders in the region were primary carnitine deficiency, hyperphenylalaninemia and short-chain acyl-CoA dehydrogenase deficiency. Their incidence rate is respectively 1:13,675, 1:16,714 and 1:42,978. The mutations in PAH, SLC22A5, and ACADS are the leading causes of IMDs in this area. This study demonstrates the importance of utilizing MS/MS in IMD screening for early diagnosis and treatment. This strategy may be used for prenatal genetic counseling to avoid irreversible growth and intellectual development disorders in children.

scholarly journals OPTIMIZATION OF THE DIAGNOSTICS OF INHERITED METABOLIC DISORDERS WITH A POSITIVE RESULT OF EXTENDED NEWBORN SCREENING

2020 ◽  
Vol 10 (2(36)) ◽  
pp. 19-28
Author(s):  
T. K. Znamenska ◽  
O. V. Vorobiova ◽  
I. E. Kuzneczov ◽  
I. V. Lastivka ◽  
I. H. Samoylenko ◽  
...  
Keyword(s):  
Positive Result ◽  
Newborn Screening ◽  
Metabolic Disorders ◽  
Inherited Metabolic Disorders

scholarly journals Including Classical Galactosaemia in the Expanded Newborn Screening Panel Using Tandem Mass Spectrometry for Galactose-1-Phosphate

2019 ◽  
Vol 5 (2) ◽  
pp. 19 ◽  
Author(s):  
Arieh Cohen ◽  
Marta Baurek ◽  
Allan Lund ◽  
Morten Dunø ◽  
David Hougaard
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Metabolic Disorders ◽  
Tandem Mass ◽  
Screening Programs ◽  
Screening Performance ◽  
Expanded Newborn Screening ◽  
Classical Galactosaemia

Galactosaemia has been included in various newborn screening programs since 1963. Several methods are used for screening; however, the predominant methods used today are based on the determination of either galactose-1-phosphate uridyltransferase (GALT) activity or the concentration of total galactose. These methods cannot be multiplexed and therefore require one full punch per sample. Since the introduction of mass spectrometry in newborn screening, many diseases have been included in newborn screening programs. Here, we present a method for including classical galactosaemia in an expanded newborn screening panel based on the specific determination of galactose-1-phosphate by tandem mass spectrometry. The existing workflow only needs minor adjustments, and it can be run on the tandem mass spectrometers in routine use. Furthermore, compared to the currently used methods, this novel method has a superior screening performance, producing significantly fewer false positive results. We present data from 5500 routine newborn screening samples from the Danish Neonatal Screening Biobank. The cohort was enriched by including 14 confirmed galactosaemia positive samples and 10 samples positive for other metabolic disorders diagnosed through the Danish newborn screening program. All galactosaemia positive samples were identified by the method with no false positives. Furthermore, the screening performance for other metabolic disorders was unaffected.

Institutional experience of newborn screening for inborn metabolism disorders by tandem MS in the Turkish population

2020 ◽  
Vol 33 (6) ◽  
pp. 703-711
Author(s):  
Özlem Demirelce ◽  
Fehime Benli Aksungar ◽  
Neslihan Yildirim Saral ◽  
Meltem Kilercik ◽  
Mustafa Serteser ◽  
...  
Keyword(s):  
Amino Acid ◽  
Newborn Screening ◽  
Metabolic Disorders ◽  
Turkish Population ◽  
High Rate ◽  
Screening Tests ◽  
Acid Oxidation ◽  
Study Group ◽  
Tandem Ms ◽  
Inherited Metabolic Disorders

AbstractBackgroundThe tandem mass spectrometry method in the screening of congenital metabolic disorders is not included in routine national newborn screening programmes in Turkey. To evaluate the distribution of acylcarnitines and amino acid levels in normal newborns, establish acylcarnitine and amino acid cut-off levels and further preliminary results of inherited metabolic disorders inferentially in the Turkish population.MethodsNewborn screening tests performed by tandem MS from 2016 to 2018 were retrospectively reviewed. The study group included 17,066 newborns born in our hospitals located in various regions of Turkey. Blood samples were obtained from infants older than 24 h of age. Among the 17,066 newborns, the metabolic screening data of 9,994 full-term newborns (>37 weeks) were employed to obtain the percentile distribution of the normal population. The study group (17,066) was screened for 26 types of inborn error of metabolism.ResultsOur established cut-offs, were compared with the cut-offs determined by Region for Stork Study and Centers for Disease Control. Among the 26 screened disorders, a total of 12 cases (8 amino acid metabolism disorders, 1 urea cycle defect, 2 organic acidaemias and 1 fatty acid oxidation disorder) were identified.ConclusionsBecause of the high rate of consanguineous marriages in Turkey, the development of a nationwide screening panel is necessary for early detection and management of potentially treatable inherited metabolic disorders.

scholarly journals Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Alexandra Bower ◽  
Apolline Imbard ◽  
Jean-François Benoist ◽  
Samia Pichard ◽  
Odile Rigal ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Neonatal Intensive Care ◽  
Metabolic Disorders ◽  
Diagnostic Yield ◽  
Propionic Acidemia ◽  
University Hospital ◽  
High Rate ◽  
Maple Syrup ◽  
Inherited Metabolic Disorders ◽  
Neonatal Icu

Abstract Inherited metabolic disorders (IMDs) in neonates are a diagnostic and therapeutic challenge for the neonatologist, with the priority being to rapidly flag the treatable diseases. The objective of this study was to evaluate the contribution of targeted metabolic testing for diagnosing suspected IMDs on the basis of suggestive clinical setting or family history in neonates. We conducted an observational study over five years, from January 1st, 2010 to December 31, 2014 in the neonatal intensive care unit (NICU) at Robert Debré University Hospital, Paris, France. We assessed the number of neonates for whom a metabolic testing was performed, the indication for each metabolic test and the diagnostic yield of this selected metabolic workup for diagnosing an IMD. Metabolic testing comprised at least one of the following testings: plasma, urine or cerebrospinal fluid amino acids, urine organic acids, plasma acylcarnitine profile, and urine mucopolysaccharides and oligosaccharides. 11,301 neonates were admitted at the neonatal ICU during the study period. One hundred and ninety six neonates underwent metabolic testing. Eleven cases of IMDs were diagnosed. This diagnostic approach allowed the diagnosis, treatment and survival of 4 neonates (maple syrup urine disease, propionic acidemia, carnitine-acylcarnitine translocase deficiency and type 1 tyrosinemia). In total, metabolic testing was performed for 1.7% of the total number of neonates admitted in the NICU over the study period. These included 23% finally unaffected neonates with transient abnormalities, 5.6% neonates suffering from an identified IMD, 45.4% neonates suffering from a non-metabolic identified disease and 26% neonates with chronic abnormalities but for whom no final causal diagnosis could be made. In conclusion, as expected, such a metabolic targeted workup allowed the diagnosis of classical neonatal onset IMDs in symptomatic newborns. However, this workup remained normal or unspecific for 94.4% of the tested patients. It allowed excluding an IMD in 68.4% of the tested neonates. In spite of the high rate of normal results, such a strategy seems acceptable due to the severity of the symptoms and the need for immediate treatment when available in neonatal IMDs. However, its cost-effectiveness remains low especially in a clinically targeted population in a country where newborn screening is still unavailable for IMDs except for phenylketonuria in 2019.

scholarly journals Newborn Screening for Inherited Metabolic Disorders: Early Identification and Long-Term Care for Patients in the Plain Community, Wisconsin, 2011-2017

2019 ◽  
Vol 134 (2_suppl) ◽  
pp. 58S-63S ◽  
Author(s):  
Patrice K. Held ◽  
Gregory M. Rice ◽  
Ashley Kuhl ◽  
Nicoletta Drilias ◽  
Mei Baker ◽  
...  
Keyword(s):  
Public Health ◽  
Health Care ◽  
Newborn Screening ◽  
Early Identification ◽  
Metabolic Disorders ◽  
Health Program ◽  
Public Health Program ◽  
Care Providers ◽  
Term Care ◽  
Inherited Metabolic Disorders

The Plain community is the fastest-growing religious minority in Wisconsin. This community has a high incidence of genetic disorders, many of which are identifiable through newborn screening. We describe efforts by the Wisconsin Newborn Screening Program (WNSP) to improve health care in the Plain community by targeting early identification of, and intervention for, patients with inherited metabolic disorders. WNSP formed partnerships with families and health care providers to increase awareness of screening procedures and the intended benefits of screening, modify testing algorithms to enhance detection, and establish medical homes for patients with confirmed disorders. The estimated number of Plain newborns screened increased by 25.5% during the study period, from 547 in 2011 to 736 in 2017; 122 persons underwent carrier testing, and 143 newborns received second-tier testing. From 2014 to 2017, affected patients received 71 metabolic evaluations in their community medical home without travel to major health centers. This article demonstrates how a comprehensive public health program can help increase screening rates, enhance detection, and establish follow-up care in a hard-to-reach religious community. A key lesson learned was the importance of communication among all stakeholders to develop an effective public health program.

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