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.

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.

scholarly journals From a Single Child to Uniform Newborn Screening: My Lucky Life in Pediatric Medical Genetics

2018 ◽  
Vol 19 (1) ◽  
pp. 1-14 ◽  
Author(s):  
R. Rodney Howell
Keyword(s):  
Newborn Screening ◽  
Genetic Disorders ◽  
Glycogen Storage ◽  
Laboratory Research ◽  
Inborn Errors ◽  
Professional Experiences ◽  
Glycogen Storage Diseases ◽  
Whole Exome ◽  
Single Child ◽  
Residual Blood

Mike, a memorable young patient with untreated phenylketonuria, as well as others affected by genetic disorders that could be treated if diagnosed in infancy, launched my six-decade career. This autobiographical article reflects on my childhood, early research, and professional experiences in pediatric genetics. My laboratory research focused on inborn errors of metabolism, including the glycogen storage diseases. My effort to organize newborn screening through the recommended uniform screening panel shaped and standardized newborn screening nationwide. Looking ahead, the expansion of whole-genome and whole-exome sequencing into newborn screening raises ethical and policy issues regarding informed consent procedures and the storage and use of residual blood spots.

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 Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Sonia Pajares ◽  
Jose Antonio Arranz ◽  
Aida Ormazabal ◽  
Mireia Del Toro ◽  
Ángeles García-Cazorla ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Clinical Symptoms ◽  
Screening Program ◽  
Genetic Disorders ◽  
Failure To Thrive ◽  
Propionic Acidemia ◽  
Screening Strategy ◽  
Vitamin B ◽  
Developmental Regression ◽  
Second Tier

Abstract Background Alteration of vitamin B12 metabolism can be genetic or acquired, and can result in anemia, failure to thrive, developmental regression and even irreversible neurologic damage. Therefore, early diagnosis and intervention is critical. Most of the neonatal cases with acquired vitamin B12 deficiency have been detected by clinical symptoms and only few of them trough NBS programs. We aim to assess the usefulness of the second-tier test: methylmalonic acid (MMA), methylcitric acid (MCA) and homocysteine (Hcys) in our newborn screening program and explore the implications on the detection of cobalamin (vitamin B12) related disorders, both genetic and acquired conditions. Methods A screening strategy using the usual primary markers followed by the analysis of MMA, MCA and Hcys as second tier-test in the first dried blood spot (DBS) was developed and evaluated. Results During the period 2015–2018 a total of 258,637 newborns were screened resulting in 130 newborns with acquired vitamin B12 deficiency (incidence 1:1989), 19 with genetic disorders (incidence 1:13,613) and 13 were false positive. No false negatives were notified. Concerning the second-tier test, the percentage of cases with MMA above the cut-off levels, both for genetic and acquired conditions was very similar (58% and 60%, respectively). Interestingly, the percentage of cases with increased levels of Hcys was higher in acquired conditions than in genetic disorders (87% and 47%, respectively). In contrast, MCA was high only in 5% of the acquired conditions versus in 53% of the genetic disorders, and it was always very high in all patients with propionic acidemia. Conclusions When screening for methylmalonic acidemia and homocystinuria, differential diagnosis with acquired vitamin B12 deficiency should be done. The results of our strategy support the inclusion of this acquired condition in the NBS programs, as it is easily detectable and allows the adoption of corrective measures to avoid the consequences of its deficiency.

scholarly journals The Perception of Premarital Genetic Screening within Young Jordanian Individuals

2021 ◽  
pp. 1-7
Author(s):  
Zaid Altaany ◽  
Omar F. Khabour ◽  
Karem H. Alzoubi ◽  
Almuthanna K. Alkaraki ◽  
Ghaith Al-Taani
Keyword(s):  
Genetic Screening ◽  
Positive Attitude ◽  
Genetic Disorders ◽  
Genetic Diseases ◽  
Female Gender ◽  
University Education ◽  
High Rate ◽  
Cross Sectional ◽  
Convenience Sample ◽  
The Government

<b><i>Background:</i></b> During the past two decades, the attention of public health has been drawn to premarital genetic screening (PGS) programs to reduce birth defects and avoid genetic disorders. In Jordan, the high rate of genetic hemoglobinopathies compelled the government to implement an obligatory PGS program before marriage. Therefore, the objective of this study was to investigate the knowledge, opinion, and practice of young Jordanians concerning PGS. <b><i>Methods:</i></b> Using a pretested questionnaire, this cross-sectional study was conducted on a convenience sample from Jordan. The measures included respondents’ demographics, and beliefs/opinions regarding PGS. <b><i>Results:</i></b> A total of 432 participants completed the survey. The majority (87.8%) had a positive attitude toward PGS program. Reasons behind this positive attitude were preventing transmission of genetic diseases, reducing family breakdown/psychosocial problems, and financial burdens of having a child with genetic disease. In fact, 49.8% of participants were willing to change their marriage decision in case of receiving incompatible results. Moreover, most of the participants (75.1%) demanded the implementation of a law that prohibits incompatible marriages. A positive attitude toward PGS was found to be associated with female gender and having a university education. <b><i>Conclusions:</i></b> Young Jordanians have a positive attitude toward the implementation of PGS. Yet, educational programs should be drawn up to the target population before getting married emphasizing the important role of PGS in the wellness of the community.

scholarly journals Course for the qualification of nurses in the care of children with genetic diseases: an experience report

2021 ◽  
Vol 42 (spe) ◽  
Author(s):  
Silvani Herber ◽  
Fernanda Araújo Rodrigues ◽  
Alessandra Vaccari
Keyword(s):  
Professional Development ◽  
Inborn Errors Of Metabolism ◽  
Screening Program ◽  
Genetic Diseases ◽  
Public University ◽  
Experience Report ◽  
Southern Brazil ◽  
Team Leaders ◽  
Inborn Errors ◽  
Face To Face

ABSTRACT Objective To describe the experience of developing and operating an extension course to qualify nurses in the care of children with genetic diseases. Method An experience report about the conduction of a university extension course with eight participants, developed at a public university in southern Brazil. It was a face-to-face course in November 2019. Results The course covered the following themes: introduction to Genetics in Nursing; rare diseases; inborn errors of metabolism; Neonatal Screening Program; and microcephaly. The content was developed through theoretical aspects, presentation of clinical cases, practical activities, and realistic simulation. Conclusion The extension course provided knowledge to nurses, who develop their functions as team leaders, enabling professional development and the promotion of information on the topic, which corroborates the objectives of the Nursing Now campaign.

Genetics

2020 ◽  
pp. 100-113
Author(s):  
Jeremy D. Woods ◽  
Katrina M. Dipple ◽  
Derek A. Wong
Keyword(s):  
Genetic Disorders ◽  
Genetic Diseases ◽  
Disorders Of Sex Development ◽  
Pediatric Care ◽  
Chromosomal Microarray ◽  
Inborn Errors ◽  
Sex Development ◽  
Medical Issues ◽  
Survival And Development ◽  
Answer Format

Recognition and comanagement of genetic disorders is an increasingly important aspect of general pediatric care. Timely diagnosis and proper management of treatable genetic disorders often have profound implications for the survival and development of the affected individuals. This chapter provides general pediatricians with the knowledge base necessary to understand modern genetic testing, recognize the presentation of the more commonly encountered genetic diseases, and provide ability to coordinate and manage these children’s complex medical issues. The question-and-answer format provides active learning in a wide array of subjects, including the application of testing modalities (e.g., karyotyping, chromosomal microarray, and DNA sequencing), as well as inborn errors of metabolism, disorders of sex development, and more common mutations and deletions.

scholarly journals Establishing Newborn Screening for SCID in the USA; Experience in California

2021 ◽  
Vol 7 (4) ◽  
pp. 72
Author(s):  
Jennifer M. Puck ◽  
Andrew R. Gennery
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Receptor Gene ◽  
Severe Combined Immunodeficiency ◽  
Cell Receptor ◽  
Dried Blood Spots ◽  
Infectious Complications ◽  
Serious Infections ◽  
The Usa ◽  
Excision Circles

Newborn screening for severe combined immunodeficiency (SCID) has developed from the realization that infants affected with SCID require prompt diagnosis and treatment to avoid fatal infectious complications. Screening DNA from infant dried blood spots for T-cell receptor excision circles (TRECs), byproducts of normal antigen-receptor gene rearrangement, has proven to be a reliable method to identify infants with SCID and other serious T lymphocyte defects before the onset of serious infections. The experience of the SCID newborn screening program in California after screening over 3 million infants demonstrates the effectiveness of this measure.

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