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Expanded newborn screening

Athanasios Goumenos, Eirini Tsoutsou, Joanne Traeger-Synodinos, Dimitrios Petychakis, Maria Gavra, Aggeliki Kolialexi, Helena Frysira
Craniosynostosis (CS) is a condition where one or more of the cranial sutures fuse prematurely. It affects almost 1/2,000 newborns, and includes both syndromic and non-syndromic cases. To date, variants in over 70 different genes have been associated with the expression of CS. In this report, we describe two unrelated cases that presented with coronal CS. TCF12 sequencing analysis revealed novel frameshift nucleotide variants, which were evaluated as pathogenic according to the current guidelines for interpreting sequence variants...
2019: Application of Clinical Genetics
Meera Shanmuganathan, Philip Britz-McKibbin
Expanded newborn screening of inborn errors of metabolism (IEM) based on tandem mass spectrometry (MS/MS) technology is one of the most successful preventative healthcare initiatives for presymptomatic diagnosis and treatment of rare yet treatable genetic diseases in the population. However, confirmatory testing of presumptive screen-positive cases is required using high efficiency separations for improved specificity in order to improve the positive predictive value (PPV) for certain classes of IEMs. Here, we describe recent advances using capillary electrophoresis-mass spectrometry (CE-MS) for reliable second-tier screening or confirmatory testing based on targeted analysis of amino acids, acylcarnitines, nucleosides, and other classes of polar metabolites associated with IEMs...
2019: Methods in Molecular Biology
Artor Niccoli Asabella, Corinna Altini, Anna G Nappi, Valentina Lavelli, Cristina Ferrari, Andrea Marzullo, Alessandra Loiodice, Giuseppe Rubini
Sickle cell disease (SCD) is the best known haemoglobinopathy, caused by a mutation substituting valina for glutamic acid at position 6 of the beta-globin chain of adult hemoglobin A, resulting in hemoglobin S (HbS). The homozygous HbS disease (HbSS), an autosomal recessive disorder, is the most common form and the Mediterranean area, along with sub-Saharian African and India, have the highest prevalence (1%-15%). In particular, Sicily with a prevalence of 2%-5%, is among the most interested regions. However, migratory flows have led to a wider diffusion of the disease no longer confined to endemic areas...
March 5, 2019: Hellenic Journal of Nuclear Medicine
Yuqi Yang, Leilei Wang, Benjing Wang, Shuang Liu, Bin Yu, Ting Wang
This study explored the effectiveness of expanding newborn screening (NBS) by tandem mass spectrometry (TMS) and gene diagnosis by next-generation sequencing (NGS). First, we described the characteristics of gene variants in Jiangsu Province. We collected clinical data from three NBS centers. All infants followed a unified screening and diagnosis process. After obtaining informed consent, dried blood spots (DBSs) were collected and analyzed by TMS. If the results fell outside of the cut-off value, repeat analysis was performed...
2019: Frontiers in Genetics
Norma-Jean Simon, Anne Atkins, Careema Yusuf, Beth A Tarini
CONTEXT: In 2015, the United States Federal Advisory Committee on Heritable Disorders in Newborns and Children issued recommendations for state-based newborn screening programs to benchmark improvements in newborn-screening timeliness. Newborn screening (NBS) timeliness encompasses the efficient collection, transportation, testing, and reporting of results. Nearly all state programs fail to achieve recommended timeliness benchmarks. OBJECTIVES: Our study explored the processes and procedures that accelerate or hamper progress toward improving NBS timeliness from a public health laboratory program perspective...
February 14, 2019: Journal of Public Health Management and Practice: JPHMP
Malia S Q Murphy, Pranesh Chakraborty, Jesmin Pervin, Anisur Rahman, Lindsay A Wilson, Monica Lamoureux, Kathryn Denize, Matthew Henderson, Steve Hawken, Beth K Potter, Julian Little, Kumanan Wilson
BACKGROUND: Newborn screening programs are essential preventative public health initiatives but are not widely available in low-resource settings. The objective of this study was to describe the frequency and nature of screen positive determinations as made by a Canadian newborn screening program in a cohort of infants born in Matlab, Bangladesh. Dried newborn cord and heel-prick blood spot samples collected as part of a validation study nested within a preterm birth research cohort were collected between January 2017 and July 2018 and analyzed in a Canadian newborn screening laboratory where the laboratory's disease panel and screening thresholds were applied...
January 30, 2019: Orphanet Journal of Rare Diseases
Patrícia Janeiro, Rita Jotta, Ruben Ramos, Cristina Florindo, Fátima V Ventura, Laura Vilarinho, Isabel Tavares de Almeida, Ana Gaspar
Fatty acid β-oxidation (FAO) disorders have a wide variety of symptoms, not usually evident between episodes of acute decompensations. Cardiac involvement is frequent, and severe ventricular arrhythmias are suspected of causing sudden death. Expanded newborn screening (ENS) for these disorders, hopefully, contribute to prevent potentially acute life-threatening events. In order to characterize acute decompensations observed in FAO-deficient cases identified by ENS, a retrospective analysis was performed, covering a period of 9 years...
January 7, 2019: European Journal of Pediatrics
Max G Bronstein, Richard J Pan, Mark Dant, Bertrand Lubin
In 2016, the EveryLife Foundation for Rare Diseases, in partnership with Dr Pan, who is a pediatrician and state senator in California, launched legislation to advance and expand newborn screening. Researchers have shown that newborn screening can be cost-effective and can greatly improve health outcomes for patients with rare diseases. However, adding additional diseases in newborn screening is a long process, requiring legislative approval in addition to new state funding. Such process delays can lead to protracted diagnostic odysseys for patients, especially those with rare diseases...
January 3, 2019: Pediatrics
Paul Kruszka, Debra Regier
Inborn errors of metabolism (IEM), although individually rare, occur in 1 out of every 1,500 births. The first opportunity to detect IEM occurs during preconception counseling, when pregnant women and couples considering future pregnancies can undergo carrier screening. For individuals of all ethnic backgrounds, the screening includes testing for a variety of IEM and non-IEM. For individuals of Ashkenazi Jewish descent, carrier screening, per the American College of Medical Genetics and Genomics, also includes testing for Tay-Sachs disease and four other IEM...
January 1, 2019: American Family Physician
Bianca M L Stelten, Hidde H Huidekoper, Bart P C van de Warrenburg, Eva H Brilstra, Carla E M Hollak, Harm R Haak, Leo A J Kluijtmans, Ron A Wevers, Aad Verrips
OBJECTIVE: To evaluate the effect of chenodeoxycholic acid treatment on disease progression in cerebrotendinous xanthomatosis (CTX). METHODS: In this retrospective cohort study, we report the clinical long-term follow-up characteristics of 56 Dutch patients with CTX. Age at diagnosis was correlated with clinical characteristics and with the course of modified Rankin Scale (mRS) and Expanded Disability Status Scale (EDSS) scores at follow-up. RESULTS: Median follow-up time was 8 years (6 months-31...
January 8, 2019: Neurology
Neslihan Yildirim Saral, Fehime Benli Aksungar, Cigdem Aktuglu-Zeybek, Julide Coskun, Ozlem Demirelce, Mustafa Serteser
Glutaric acidemia type II (GAII), also known as multiple acyl-CoA dehydrogenase deficiency, is an autosomal recessive inborn error of amino acid and fatty acid metabolism. We report a case of GAII with novel electron transfer flavoprotein (ETF)-A mutations in a 2-year-old female with thalassemia minor. The patient developed an episode of hypoglycemia and hypotonicity on the postnatal first day. Laboratory investigations revealed elevations of multiple acyl carnitines indicating glutaric acidemia type II in newborn screening analysis...
November 26, 2018: World Journal of Clinical Cases
Lydia H Pecker, Rakhi P Naik
Sickle cell trait (SCT) is unique among the carrier states that are identified during newborn screening. Unlike other heterozygous states for rare recessive diseases, SCT is exceedingly prevalent throughout regions of the world, making sickle cell disease one of the most common monogenetic diseases worldwide. Because of this high frequency, reproductive counseling is of paramount importance. In addition, unlike other carrier states, SCT seems to be a risk factor for several clinical complications, such as extreme exertional injury, chronic kidney disease, and venous thromboembolism...
November 30, 2018: Hematology—the Education Program of the American Society of Hematology
Stamatia Theodoridou, Nikolaos Prapas, Angeliki Balassopoulou, Effrossyni Boutou, Timoleon-Achilleas Vyzantiadis, Despoina Adamidou, Evangelia-Eleni Delaki, Eleni Yfanti, Marina Economou, Αikaterini Teli, Olga Karakasidou, Evangelia Skatharoudi, Theodoros Theodoridis, Ersi Voskaridou
Hemoglobinopathies constitute the most frequent monogenic disorders worldwide and in Greece. In Greece, carrier frequency is estimated at about 8.0%, resulting in a heavy disease burden in the past. Therefore, the implementation of a national prevention program of the disease was an urgent necessity. Moreover, due to migration flow from different geographic areas in the last two decades, the observed spectrum of underlying mutations was expanded, leading to the adaptation of diagnostic approaches. We report the results of the National Thalassaemia Prevention Programme in Northern Greece, over a 15-year period (2001-2015)...
December 3, 2018: Hemoglobin
Lydia H Pecker, Rakhi P Naik
Sickle cell trait (SCT) is unique among the carrier states that are identified during newborn screening. Unlike other heterozygous states for rare recessive diseases, SCT is exceedingly prevalent throughout regions of the world, making sickle cell disease one of the most common monogenetic diseases worldwide. Because of this high frequency, reproductive counseling is of paramount importance. In addition, unlike other carrier states, SCT appears to be a risk factor for several clinical complications such as extreme exertional injury, chronic kidney disease, and venous thromboembolism...
November 28, 2018: Blood
Xuelei Zhao, Xiaohua Cheng, Lihui Huang, Xianlei Wang, Cheng Wen, Xueyao Wang
In order to investigate the genetic causes of hearing loss in a Chinese proband with nonsyndromic hearing loss and enlarged vestibular aqueduct (EVA), we conducted clinical and genetic evaluations in a deaf proband and her parents with normal hearing. 20 exons and flanking splice sites of the SLC26A4 gene were screened for pathogenic mutations by PCR amplification and bidirectional sequencing. As a control, a group of 400 healthy newborns from the same ethnic background were subjected to SLC26A4 gene screening using the same method...
2018: Bioscience Trends
Graham Amponsah Ameyaw, John Ribera, Samuel Anim-Sampong
BACKGROUND: Newborn hearing screening is a vital aspect of the Early Hearing Detection and Intervention program, aimed at detecting hearing loss in children for prompt treatment. In Ghana, this kind of pediatric hearing service is available at only one health care facility located in the Greater Accra Region. The current practice in effect has virtually cut-off infants in the other regions from accessing hearing screening and other pediatric audiological services. This has prompted a study into alternative methodologies to expand the reach of such services in Ghana...
February 7, 2018: Journal of the American Academy of Audiology
Alan F Rope, Tia L Kauffman, Pat Himes, Laura M Amendola, Sumit Punj, Yassmine Akkari, Amiee Potter, James V Davis, Jennifer L Schneider, Jacob A Reiss, Mari J Gilmore, Carmit K McMullen, Deborah A Nickerson, C Sue Richards, Gail P Jarvik, Benjamin S Wilfond, Katrina A B Goddard
A research study utilizing whole-genome sequence analysis for preconception carrier screening provided a genome-first detection of a severe de novo Factor VIII mutation in a woman with implications for pregnancy management and life-saving interventions of her newborn son, and a challenge to the existing paradigm regarding carrier testing.
November 2018: Clinical Case Reports
C M Nasheeda, Prijo Philip, Rathika Damodara Shenoy, Sukanya Shetty
Even in the era of expanded newborn screening, utility of cord blood thyroid stimulating hormone (cTSH) for diagnosis of congenital hypothyroidism (CH) cannot be marginalised. This study was to assess the diagnostic utility of cTSH > 20 μIU/L for screening CH. Generation of new cTSH value was the main outcome measure, to increase specificity. Designed as a cross-sectional analytic study in the neonatal unit of teaching hospital, 1200 term neonates with birth weight ≥2500 g, with no perinatal complications were included...
October 2018: Indian Journal of Clinical Biochemistry: IJCB
Michele Mussap, Marco Zaffanello, Vassilios Fanos
Timely newborn screening and genetic profiling are crucial in early recognition and treatment of inborn errors of metabolism (IEMs). A proposed nosology of IEMs has inserted 1,015 well-characterized IEMs causing alterations in specific metabolic pathways. With the increasing expansion of metabolomics in clinical biochemistry and laboratory medicine communities, several research groups have focused their interest on the analysis of metabolites and their interconnections in IEMs. Metabolomics has the potential to extend metabolic information, thus allowing to achieve an accurate diagnosis for the individual patient and to discover novel IEMs...
September 2018: Annals of Translational Medicine
Hassan Abolhassani, Fatemeh Kiaee, Marzieh Tavakol, Zahra Chavoshzadeh, Seyed Alireza Mahdaviani, Tooba Momen, Reza Yazdani, Gholamreza Azizi, Sima Habibi, Mohammad Gharagozlou, Masoud Movahedi, Amir Ali Hamidieh, Nasrin Behniafard, Mohammamd Nabavi, Mohammad Hassan Bemanian, Saba Arshi, Rasol Molatefi, Roya Sherkat, Afshin Shirkani, Reza Amin, Soheila Aleyasin, Reza Faridhosseini, Farahzad Jabbari-Azad, Iraj Mohammadzadeh, Javad Ghaffari, Alireza Shafiei, Arash Kalantari, Mahboubeh Mansouri, Mehrnaz Mesdaghi, Delara Babaie, Hamid Ahanchian, Maryam Khoshkhui, Habib Soheili, Mohammad Hossein Eslamian, Taher Cheraghi, Abbas Dabbaghzadeh, Mahmoud Tavassoli, Rasoul Nasiri Kalmarzi, Seyed Hamidreza Mortazavi, Sara Kashef, Hossein Esmaeilzadeh, Javad Tafaroji, Abbas Khalili, Fariborz Zandieh, Mahnaz Sadeghi-Shabestari, Sepideh Darougar, Fatemeh Behmanesh, Hedayat Akbari, Mohammadreza Zandkarimi, Farhad Abolnezhadian, Abbas Fayezi, Mojgan Moghtaderi, Akefeh Ahmadiafshar, Behzad Shakerian, Vahid Sajedi, Behrang Taghvaei, Mojgan Safari, Marzieh Heidarzadeh, Babak Ghalebaghi, Seyed Mohammad Fathi, Behzad Darabi, Saeed Bazregari, Nasrin Bazargan, Morteza Fallahpour, Alireza Khayatzadeh, Naser Javahertrash, Bahram Bashardoust, Mohammadali Zamani, Azam Mohsenzadeh, Sarehsadat Ebrahimi, Samin Sharafian, Ahmad Vosughimotlagh, Mitra Tafakoridelbari, Maziar Rahimi, Parisa Ashournia, Anahita Razaghian, Arezou Rezaei, Setareh Mamishi, Nima Parvaneh, Nima Rezaei, Lennart Hammarström, Asghar Aghamohammadi
BACKGROUND: The number of inherited diseases and the spectrum of clinical manifestations of primary immunodeficiency disorders (PIDs) are ever-expanding. Molecular diagnosis using genomic approaches should be performed for all PID patients since it provides a resource to improve the management and to estimate the prognosis of patients with these rare immune disorders. METHOD: The current update of Iranian PID registry (IPIDR) contains the clinical phenotype of newly registered patients during last 5 years (2013-2018) and the result of molecular diagnosis in patients enrolled for targeted and next-generation sequencing...
October 2018: Journal of Clinical Immunology
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