scholarly journals PECULIARITIES OF EXPANDED NEWBORN SCREENING FOR THE INHERITED METABOLIC DISORDERS IN PREMATURE NEWBORNS

2021 ◽  
Vol 11 (3(41)) ◽  
pp. 5-16
Author(s):  
T. Znamenska ◽  
O. Vorobiova ◽  
I. Kuzneczov ◽  
I. Lastivka ◽  
T. Holota ◽  
...  
Keyword(s):  
Birth Weight ◽  
Low Birth Weight ◽  
Newborn Screening ◽  
Neonatal Screening ◽  
Metabolic Disorders ◽  
Metabolic Diseases ◽  
Blood Sampling ◽  
Inborn Errors ◽  
Premature Newborns ◽  
Global Team

Occurrence of the premature birth in Ukraine is about 6%. Premature newborns are the highest risk group of developing chronic pathology of the nervous system, sensory organs, and respiratory system, causing neonatal mortality and disability; the latter is 22 times higher in premature newborns than in full-term ones. Besides, there is a large group of rare metabolic disorders that significantly disrupt the adaptation and nursing of newborns with signs of morpho-functional and enzymes immaturity. The efficacy of medical care of premature newborns to a great extent relates to prompt diagnosis as common somatic, as rare metabolic disorders.In view of the absence of specific symptoms, it is almost impossible to establish a diagnosis of inherited metabolic disordersduring the clinical examination of a neonate.Expanded newborn screening (ENBS) for inborn errors of metabolism (IEMs) proved to be an effective tool to single out newborns with genetic deficiency of certain metabolic enzymes.The practical experience of performingENBS indicates a problematic issue is the interpretation of results for preterm babies.This article is discussed the key factors affecting the predictive value of ENBS results in premature newborns, like peculiarities of blood sampling based on time intervals from delivery for certain nosologies, repeated sample taking for lab examination considering the basic principles of 2-nd Edition of CLSI "Guideline "Newborn Screening for Preterm, Low Birth Weight, and Sick Newborns, 2019". The CLSI Guideline presents the consensus solutions of a global team of neonatologists, metabolic paediatricians and medical geneticists regarding the accuracy, reliability and timing of laboratory determinations of IEM markers in the blood, as well as a set of factors to consider interpreting ENBS results for premature, low birth weight and newborns with perinatal pathology.The current procedure for neonatal screening for premature babies in Ukraine should be updated to modern requirements of the relevant clinical recommendations of world-recognized medical institutions, including CLSI. The critical issue in improving the quality and reliability of neonatal screening for preterm babies is multiple (repeated) blood sampling for laboratory determination of levels of biochemical IEM markers.A properly established and well- functioning system of expanded neonatal screening proved to be a highly effective tool for reducing early infant mortality and disability associated with inherited metabolic diseases.

The Acylcarnitine Profile in Dried Blood Spots is Affected by Hematocrit: A Study of Newborn Screening Samples in Very-Low-Birth-Weight Infants

2020 ◽  
Author(s):  
Mitsuhiro Haga ◽  
Mitsuhisa Isobe ◽  
Ken Kawabata ◽  
Masaki Shimizu ◽  
Hiroshi Mochizuki
Keyword(s):  
Birth Weight ◽  
Low Birth Weight ◽  
Newborn Screening ◽  
Very Low Birth Weight ◽  
Dried Blood Spots ◽  
Screening Tests ◽  
Low Birth Weight Infants ◽  
Inborn Errors ◽  
Blood Spots ◽  
Acylcarnitine Profile

Objective The acylcarnitine profile is analyzed in dried blood spots (DBS) to screen for inborn errors of metabolism. Hematocrit (Ht) is known to affect the result of quantitative analyses of DBS samples; however, the effects of Ht on the acylcarnitine profiles in DBS have not been studied in actual samples from newborns. Study Design The acylcarnitine profiles in DBS for newborn screening tests and Ht levels of very-low-birth-weight infants were obtained from medical records. We investigated the relationship between Ht and each acylcarnitine using Pearson's correlation coefficient (r). Results We examined 77 newborns in this study. There was a significantly positive correlation between Ht and C0, C2, C12, C16, C18, C18:1, and C18:1-OH, respectively (p < 0.0025). The correlation was the greatest on C2 (r = 0.59). Conclusion This study clarifies that Ht and C0, C2, C12, C16, C18, C18:1, and C18:1-OH are significantly correlated in DBS, which is consistent with previous studies. Hence, the effect of Ht should be considered when interpreting the results of acylcarnitine profiles in DBS. Key Points

Prevalence and predictors of adverse outcomes in neonatal seizures

2021 ◽  
pp. 1-7
Author(s):  
K. Famra ◽  
P. Barta ◽  
A. Aggarwal ◽  
B.D. Banerjee
Keyword(s):  
Birth Weight ◽  
Low Birth Weight ◽  
Very Low Birth Weight ◽  
Birth Asphyxia ◽  
Adverse Outcomes ◽  
Neonatal Seizures ◽  
Clinical Practices ◽  
Inborn Errors ◽  
Mortality And Morbidity ◽  
Low Birth Weight Babies

OBJECTIVES: Neonatal seizures are significant cause of neonatal mortality and morbidity. Current study was planned to study prevalence of adverse outcomes in neonatal seizures and identify its predictors. METHODS: This observational descriptive study was carried out on 220 neonates with seizures. Neonates who succumbed to illness/ death before investigations, or whose maternal records were incomplete were excluded. Blood sugar, serum calcium, serum electrolytes, and USG skull were done in all patients. CT scan, MRI and inborn errors of metabolism profile were done as and when indicated. Adverse outcomes were defined as death, phenobarbitone non responders, or abnormal examination at discharge. Antenatal, perinatal and neonatal predictors of adverse outcomes in neonatal seizures were evaluated. RESULTS: Out of 220 neonates with seizures 76(34.5%) had adverse outcomes. Very low birth weight babies (≤1500 gm) [OR 1.27(CI 0.57–2.84)], microcephaly [OR 5.93 (CI 0.55–64.41)], Apgar score≤3 at 5 minutes [OR 11.28(CI 14.18–30.45)], seizure onset within 24 hours [OR 5.99(CI 12.43–14.78)], meningitis [OR 2.63(CI 0.08–6.39)], septicemia [OR1.22(CI 0.45–3.31)] and abnormal cranial USG [OR 7.95(CI 12.61–24.22)] were significant predictors of adverse outcomes in neonates with seizures. CONCLUSION: Prematurity, very low birth weight, birth asphyxia, meningitis, septicemia and abnormal USG could predict adverse outcomes in neonatal seizures. Improved antenatal and neonatal clinical practices may help reduce adverse outcomes in these patients.

scholarly journals Newborn Screening for Congenital Hypothyroidism in Japan

2021 ◽  
Vol 7 (3) ◽  
pp. 34
Author(s):  
Kanshi Minamitani
Keyword(s):  
Birth Weight ◽  
Low Birth Weight ◽  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Failure To Thrive ◽  
Thyroid Stimulating Hormone ◽  
Low Birth Weight Infants ◽  
Term Infants ◽  
Screening Programs ◽  
Screening Strategies

Congenital hypothyroidism (CH) is the most common preventable cause of intellectual impairment or failure to thrive by early identification and treatment. In Japan, newborn screening programs for CH were introduced in 1979, and the clinical guidelines for newborn screening of CH were developed in 1998, revised in 2014, and are currently undergoing further revision. Newborn screening strategies are designed to detect the elevated levels of thyroid stimulating hormone (TSH) in most areas of Japan, although TSH and free thyroxine (FT4) are often measured simultaneously in some areas. Since 1987, in order not to observe the delayed rise in TSH, additional rescreening of premature neonates and low birth weight infants (<2000 g) at four weeks of life or when their body weight reaches 2500 g has been recommended, despite a normal initial newborn screening. Recently, the actual incidence of CH has doubled to approximately 1:2500 in Japan as in other countries. This increasing incidence is speculated to be mainly due to an increase in the number of mildly affected patients detected by the generalized lowering of TSH screening cutoffs and an increase in the number of preterm or low birth weight neonates at a higher risk of having CH than term infants.

Higher Incidence Rates of Hypothyroidism and Late TSH Rise in Preterm Very-Low-Birth-Weight Infants at a Tertiary Care Center

2018 ◽  
Vol 89 (4) ◽  
pp. 224-232 ◽  
Author(s):  
Hala Tfayli ◽  
Lama Charafeddine ◽  
Hani Tamim ◽  
Joanne Saade ◽  
Rose T. Daher ◽  
...  
Keyword(s):  
Birth Weight ◽  
Low Birth Weight ◽  
Newborn Screening ◽  
Preterm Infants ◽  
Very Low Birth Weight ◽  
Care Center ◽  
Compliance Rate ◽  
Tertiary Care ◽  
Tertiary Care Center ◽  
Low Birth Weight Infants

Background/Aims: Preterm newborns with a very low birth weight (VLBW) of < 1,500 g have an atypical form of hypothyroidism with a delayed rise in TSH, necessitating a second newborn screening specimen collection. The aims of this study were to survey the compliance with second newborn screening to detect delayed TSH rise in VLBW preterm infants at a tertiary care center, and to determine the rate of atypical hypothyroidism. Methods: Retrospective review of the records of 104 preterm VLBW infants. Late TSH rise was defined as an increase in TSH concentration after 14 days of age in the presence of a normal initial screen. Results: The compliance rate was 92% for the second screening. High rates of hypothyroidism (16.3%) and of late TSH rise (4.8%) were detected. Patients with hypothyroidism had a significantly lower birth weight (p = 0.01) and longer hospital stay (p = 0.004). Patients with late versus those with early TSH rise had a significantly lower mean birth weight (851 ± 302 vs. 1,191 ± 121 g, p = 0.004). Conclusion: The rates of early and late TSH rise in this VLBW population were higher than those in the literature and could be due to the use of povidone-iodine disinfectants. The yield of a second TSH screening in this study was high indicating the need for vigilance in screening VLBW preterm infants.

Lysosomal Newborn Screening in a Cohort in Mexican Population-

Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 5581-5581
Author(s):  
Juana Ines Navarrete
Keyword(s):  
Early Detection ◽  
Newborn Screening ◽  
Fabry Disease ◽  
Pompe Disease ◽  
Neonatal Screening ◽  
Inborn Errors Of Metabolism ◽  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Inborn Errors ◽  
Storage Diseases

Abstract INTRODUCTION: The goal of newborn screening is an early detection of inborn erros of metabolism diseases. In Mexico we began newborn screening since 1977 with very few inborn errors of metabolism such as phenylketonuria, galactosemia, congenital hypothyroidism, sickle cell anemia and cytic fibrosis (1). Since that date we have been increasing our newborn screening our newborn screening slowly and now a days we screen in most states of the country 15 inborn errors of metabolism(2). In 2012 we started with some patients through out the country a wider neonatal screening that include 5 lysosomal storage diseases. MATERIAL AND METHODS: Petróleos Mexicanos is a big governmental institution with approximately 10,000 workers and their families. Since 2005 a larger newborn screening has been done to all newborns in this institution through all the country. We test for most aminoacidopathies, including acidurias, hemoglobinopathies, G6PD deficiency, adrenal hyperplasia, cystic fibrosis and biotinidase deficiency; since August 2012 we included 6 lysosomal storage diseases; Gaucher disease, Fabry disease, Hurler disease, Pompe disease, Niemann-Pick type A and B disease and Krabbe disease. RESULTS: Up to date we have screened 10,853 newborns, we have found 9 patients with lysosomal storage diseases. We found 4 newborns with mutations for Fabry disease, 4 newborns with Pompe disease, three were pseudodeficiencies and one was combined heterozygous for a late onset presentation and pseudodeficiencies and 1 patient with Hurler disease (Table 2). We present here our clinical correlation between genotype-phenotype in these patients. We found a frequency in our population of 1 in 2713 newborns for both Fabry and Pompe disease. DISCUSSION: Newborn screening is a major public health achievement that has improve the morbidity and mortality of inborn errors of metabolism. The introduction of newborn screening for lysosomal storage diseases presents new challenges. This is the first latinamerican study of early detection of lysosomal storage diseases made by neonatal screening there are about 11 similar international studies. It is important point out that the most common lysosomal storage disease found in our study was Pompe diseases the pseudodeficiency type and Fabry disease type II with a frequency of 1 in 2713 newborns for both diseases. Spada et al; and Hwu et al; have reported frequencies of 1 in 1250 to 3100 male newborns. The mutation most commonly found was c.1088G>A, (p.R363H) for Fabry disease and c.1726G>A(p.G576S) for Pompe disease. References: 1. Nakamura K, Am J Med Genet Part C, 2011; 157, 63-71. 2. Zhou et al, J. Pediatr 2011 159 1 7-13. 3. Alterescu GM, Clin. Genet 2001:60:46-51. 2001. 4. Desnick R. J.: Enzyme Replacement Therapy and Enhancement therapies for Lysosomal Storage Diseases. J. Inher Metab Dis 2004; 27:385-4013. Disclosures No relevant conflicts of interest to declare.

scholarly journals Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR

Blood ◽  
2012 ◽  
Vol 119 (11) ◽  
pp. 2552-2555 ◽  
Author(s):  
Stephan Borte ◽  
Ulrika von Döbeln ◽  
Anders Fasth ◽  
Ning Wang ◽  
Magdalena Janzi ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Ataxia Telangiectasia ◽  
Neonatal Screening ◽  
Severe Combined Immunodeficiency ◽  
Immunoglobulin A ◽  
Cell Receptor ◽  
Nijmegen Breakage Syndrome ◽  
Inborn Errors ◽  
Guthrie Card ◽  
Excision Circles

Abstract Severe combined immunodeficiency (SCID) and X-linked agammaglobulinemia (XLA) are inborn errors of immune function that require prompt diagnosis and treatment to prevent life-threatening infections. The lack of functional T or B lymphocytes in these diseases serves as a diagnostic criterion and can be applied to neonatal screening. A robust triplex PCR method for quantitation of T-cell receptor excision circles (TRECs) and κ-deleting recombination excision circles (KRECs), using a single Guthrie card punch, was developed and validated in a cohort of 2560 anonymized newborn screening cards and in 49 original stored Guthrie cards from patients diagnosed with SCID, XLA, ataxia-telangiectasia, Nijmegen-breakage-syndrome, common variable immunodeficiency, immunoglobulin A deficiency, or X-linked hyper-IgMsyndrome. Simultaneous measurement of TREC and KREC copy numbers in Guthrie card samples readily identified patients with SCID, XLA, ataxia-telangiectasia and Nijmegen-breakage-syndrome and thus facilitates effective newborn screening for severe immunodeficiency syndromes characterized by the absence of T or B cells.

A Comprehensive Screening Method for Detecting Organic Acidurias and other Metabolic Diseases in Acutely Sick Infants and Children

1977 ◽  
Vol 14 (1-6) ◽  
pp. 149-156 ◽  
Author(s):  
R. A. Chalmers ◽  
R. W. E. Watts ◽  
A. M. Lawson
Keyword(s):  
Metabolic Disorders ◽  
Metabolic Diseases ◽  
Screening Method ◽  
Perinatal Period ◽  
Screening Tests ◽  
Inborn Errors ◽  
Organic Acidurias ◽  
Urinary Organic Acids ◽  
Neonates And Infants ◽  
Normal Neonate

A protocol is described for the comprehensive screening of acutely ill neonates and infants for inherited metabolic diseases, with particular reference to the organic acidurias. A group of simple initial tests provide positive pointers to metabolic disorders, leading to comprehensive screening tests for the aminoacidopathies and organic acidurias. Specimen chromatograms of urinary organic acids in the normal neonate, infant, and child, obtained using the methods described, are given and compared with that from the urine of a child with previously unreported 2-hydroxyglutaric aciduria. The place of the scheme in the management of inherited metabolic disease in the perinatal period and its relationship to other screening programmes are discussed. It is estimated that use of the protocol would allow the detection of about one-half of the known inborn errors of metabolism, including the aminoacidopathies, the organic acidurias, the hyperammonaemias, and several disorders of carbohydrate metabolism, many of which present acutely in the neonate and infant.

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