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Home > Issue 1 > Issue 1 (2022)

Summary

Articles

First Year of TREC-Based National SCID Screening in Sweden Christina Göngrich,Olov Ekwall,Mikael Sundin,Nicholas Brodszki,Anders Fasth,Per Marits,Sam Dysting,Susanne Jonsson,Michela Barbaro,Anna Wedell,Ulrika von Döbeln andRolf H. Zetterström

Advances in the Diagnosis and Treatment of Krabbe Disease David A Wenger,Paola Luzi andMohammad A. Rafi

Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience Hind Alsharhan,Amir A. Ahmed,Naser M. Ali,Ahmad Alahmad,Buthaina Albash,Reem M. Elshafie,Sumaya Alkanderi,Usama M. Elkazzaz,Parakkal Xavier Cyril,Rehab M. Abdelrahman,Alaa A. Elmonairy,Samia M. Ibrahim,Yasser M. E. Elfeky,Doaa I. Sadik,Sara D. Al-Enezi,Ayman M. Salloum,Yadav Girish,Mohammad Al-Ali,Dina G. Ramadan,Rasha Alsafi

Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening: Should CPT II Deficiency Be a Primary Disease Target? Rachel Mador-House,Zaiping Liu andSarah Dyack

Implementation of SCID Screening in Denmark Marie Bækvad-Hansen,Dea Adamsen,Jonas Bybjerg-Grauholm andDavid Michael Hougaard

Newborn Screening for 5q Spinal Muscular Atrophy: Comparisons between Real-Time PCR Methodologies and Cost Estimations for Future Implementation Programs Vanessa Luiza Romanelli Tavares,Frederico Monfardini,Naila Cristina Vilaça Lourenço,Katia Maria da Rocha,Karina Weinmann,Rita Pavanello andMayana Zatz

Need for Uniform Definitions in Newborn Screening for SCID: The Next Challenge for Screeners and Immunologists Mirjam van der Burg

Newborn Screening for Congenital Hypothyroidism-Clinical Evaluation and Comparison of Two Different Test Kits for the Determination of TSH in Dried Blood Samples on Two Different Platforms Ralph Fingerhut

Use of Molecular Genetic Analyses in Danish Routine Newborn Screening Allan Meldgaard Lund,Flemming Wibrand,Kristin Skogstrand,Marie Bækvad-Hansen,Niels Gregersen,Brage Storstein Andresen,David M. Hougaard,Morten Dunø andRikke Katrine Jentoft Olsen

Establishing a National Community of Practice for Newborn Screening Follow-Up Erin Darby,John Thompson,Carol Johnson,Sikha Singh andJelili Ojodu

Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening Alexander Asamoah,Sainan Wei,Kelly E. Jackson,Joseph H. Hersh andHarvey Levy

Novel Modification of a Confirmatory SMA Sequencing Assay that Can Be Used to Determine SMN2 Copy Number by Binod Kumar,Samantha Barton,Jolanta Kordowska,Roger B. Eaton,Anne M. Counihan,Jaime E. Hale andAnne Marie Comeau

Newborn Screening for SCID: Experience in Spain (Catalonia) Ana Argudo-Ramírez,Andrea Martín-Nalda,Jose Manuel González de Aledo-Castillo,Rosa López-Galera,Jose Luis Marín-Soria,Sonia Pajares-García,Mónica Martínez-Gallo,Marina García-Prat,Roger Colobran,Jacques G. Riviere,Yania Quintero,Tatiana Collado,Antonia Ribes,Judit García-Villoria andPere Soler-Palacín

Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan Tomokazu Kimizu,Shinobu Ida,Kentaro Okamoto,Hiroyuki Awano,Emma Tabe Eko Niba,Yogik Onky Silvana Wijaya,Shin Okazaki,Hideki Shimomura,Tomoko Lee,Koji Tominaga,Shin Nabatame,Toshio Saito,Takashi Hamazaki,Norio Sakai,Kayoko Saito,Haruo Shintaku,Kandai Nozu,Yasuhiro Takeshima,Kazumoto Iijima,Hisahide Nishio

Development of Second-Tier Liquid Chromatography-Tandem Mass Spectrometry Analysis for Expanded Newborn Screening in Japan Yosuke Shigematsu,Miori Yuasa,Nobuyuki Ishige,Hideki Nakajima andGo Tajima

Newborn Screening for Severe Combined Immunodeficiency Using the Multiple of the Median Values of T-Cell Receptor Excision Circles Michael F. Cogley,Amy E. Wiberley-Bradford,Sean T. Mochal,Sandra J. Dawe,Zachary D. Piro andMei W. Baker

Neonatal Screening for SCID: The French Experience Marie Audrain andCaroline Thomas

The Value of Cognitive Pretesting: Improving Validity and Revealing Blind Spots through the Development of a Newborn Screening Parent Experiences Survey Norma-Jean Simon,Anne Atkins,Brianne Miller,Natasha Bonhomme andBeth Tarini

Newborn Screening for Severe Combined Immunodeficiency: Do Preterm Infants Require Special Consideration?

Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation by Reiko Kagawa,Go Tajima,Takako Maeda,Fumiaki Sakura,Akari Nakamura-Utsunomiya,Keiichi Hara,Yutaka Nishimura,Miori Yuasa,Yosuke Shigematsu,Hiromi Tanaka,Saki Fujihara,Chiyoko Yoshii andSatoshi Okada

Provider Perspectives on the Impact of the COVID-19 Pandemic on Newborn Screening by Jessica I. Gold,Ian M. Campbell andCan Ficicioglu

The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Efforts by Amy Brower,Kee Chan,Michael Hartnett andJennifer Taylor

Thirty-Year Lessons from the Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in Japan by Atsumi Tsuji-Hosokawa andKenichi Kashimada

Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant by Go Tajima,Reiko Kagawa,Fumiaki Sakura,Akari Nakamura-Utsunomiya,Keiichi Hara,Miori Yuasa,Yuki Hasegawa,Hideo Sasai andSatoshi Okada

Newborn Screening for Congenital Hypothyroidism in Japan by Kanshi Minamitani

Landscape of Spinal Muscular Atrophy Newborn Screening in the United States: 2018–2021 by Kshea Hale,Jelili Ojodu andSikha Singh

Glutaric Aciduria Type I Missed by Newborn Screening: Report of Four Cases from Three Families by Johannes Spenger,Esther M. Maier,Katharina Wechselberger,Florian Bauder,Melanie Kocher,Wolfgang Sperl,Martin Preisel,Katharina A. Schiergens,Vassiliki Konstantopoulou,Wulf Röschinger,Johannes Häberle,Thomas Schmitt-Mechelke,Saskia B. Wortmann andRalph Fingerhut

Successful Implementation of Newborn Screening for Hemoglobin Disorders in the Philippines by Carmencita D. Padilla,Bradford L. Therrell,Maria Melanie Liberty B. Alcausin,Reynaldo C. de Castro,Maria Beatriz P. Gepte,Ma. Elouisa L. Reyes,Charity M. Jomento,Riza Concordia N. Suarez,Ebner Bon G. Maceda,Conchita G. Abarquez,J. Edgar Winston C. Posecion,Alma P. Andal,Anna Lea G. Elizaga,Bernadette C. Halili-Mendoza,Maria Paz Virginia K. Otayza andCarolyn C. Hoppe

First Experiences with Newborn Screening for Congenital Hypothyroidism in Ulaanbaatar, Mongolia by Altantuya Tsevgee,Khishigjargal Batjargal,Tsolmon Munkhchuluun,Naranchimeg Khurelbaatar,Gerelmaa Nansal,Oyun-Erdene Bulgan,Sumberzul Nyamjav,Gerelmaa Zagd andErdenetuya Ganbaatar

Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report by Camille S. Corre,Dietrich Matern,Joan E. Pellegrino,Carlos A. Saavedra-Matiz,Joseph J. Orsini andRobert Thompson-Stone

Re-Evaluation of the Prevalence of Permanent Congenital Hypothyroidism in Niigata, Japan: A Retrospective Study by Keisuke Nagasaki,Hidetoshi Sato,Sunao Sasaki,Hiromi Nyuzuki,Nao Shibata,Kentaro Sawano,Shota Hiroshima andTadashi AsamiV

Massachusetts’ Findings from Statewide Newborn Screening for Spinal Muscular Atrophy by Jaime E. Hale,Basil T. Darras,Kathryn J. Swoboda,Elicia Estrella,Jin Yun Helen Chen,Mary-Alice Abbott,Beverly N. Hay,Binod Kumar,Anne M. Counihan,Jacalyn Gerstel-Thompson,Inderneel Sahai,Roger B. Eaton andAnne Marie Comeau

Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning by Mona Sajeev,Sharon Chin,Gladys Ho,Bruce Bennetts,Bindu Parayil Sankaran,Bea Gutierrez,Beena Devanapalli,Adviye Ayper Tolun,Veronica Wiley,Janice Fletcher,Maria Fuller andShanti Balasubramaniam

Newborn Screening for Krabbe Disease—Illinois Experience: Role of Psychosine in Diagnosis of the Disease by Khaja Basheeruddin,Rong Shao,Fran Balster,Pearlie Gardley andLaura Ashbaugh

A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools by Alexander D. Rowe,Stephanie D. Stoway,Henrik Åhlman,Vaneet Arora,Michele Caggana,Anna Fornari,Arthur Hagar,Patricia L. Hall,Gregg C. Marquardt,Bobby J. Miller,Christopher Nixon,Andrew P. Norgan,Joseph J. Orsini,Rolf D. Pettersen,Amy L. Piazza,Neil R. Schubauer,Amy C. Smith,Hao Tang,Norma P. Tavakoli,Sainan Wei,add Show full author list

Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up by Jamie Matteson,Stanley Sciortino,Lisa Feuchtbaum,Tracey Bishop,Richard S. Olney andHao Tang

Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in Japan by Kenji Yamada,Seiji Yamaguchi,Kazunori Yokoyama,Kikumaro Aoki andTakeshi Taketani

A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check by Katerina S. Kucera,Jennifer L. Taylor,Veronica R. Robles,Kristin Clinard,Brooke Migliore,Beth Lincoln Boyea,Katherine C. Okoniewski,Martin Duparc,Catherine W. Rehder,Scott M. Shone,Zheng Fan,Melissa Raspa,Holly L. Peay,Anne C. Wheeler,Cynthia M. Powell,Donald B. Bailey andLisa M. Gehtland

The First Treatment for PKU: The Pioneers—Birmingham 1951 by Anne Green

Neonatal Urine Screening Program in the Province of Quebec: Technological Upgrade from Thin Layer Chromatography to Tandem Mass Spectrometry by Christiane Auray-Blais,Michel Boutin,Pamela Lavoie andBruno Maranda

Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan by Shino Odagiri,Daijiro Kabata,Shogo Tomita,Satoshi Kudo,Tomoko Sakaguchi,Noriko Nakano,Kouji Yamamoto,Haruo Shintaku andTakashi Hamazaki

IJNS Turns Seven—High Impact for Neonatal Screening by Ralph Fingerhut andPeter C. J. I. Schielen

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010 by J. Gerard Loeber,Dimitris Platis,Rolf H. Zetterström,Shlomo Almashanu,François Boemer,James R. Bonham,Patricia Borde,Ian Brincat,David Cheillan,Eugenie Dekkers,Dobry Dimitrov,Ralph Fingerhut,Leifur Franzson,Urh Groselj,David Hougaard,Maria Knapkova,Mirjana Kocova,Vjosa Kotori,Viktor Kozich,Anastasiia Kremezna,add Show full author list

Informing Parents about Newborn Screening: A European Comparison Study by Amber IJzebrink,Tessa van Dijk,Věra Franková,Gerard Loeber,Viktor Kožich,Lidewij Henneman andMarleen Jansen

Perspectives on Building Sustainable Newborn Screening Programs for Sickle Cell Disease: Experience from Tanzania by Daima Bukini,Siana Nkya,Sheryl McCurdy,Columba Mbekenga,Karim Manji,Michael Parker andJulie Makani

Newborn Screening for CAH—Challenges and Opportunities by Natasha L. Heather andAnna Nordenstrom

Guideline Adherence and Registry Recruitment of Congenital Primary Hypothyroidism: Data from the German Registry for Congenital Hypothyroidism (HypoDok) by Julia Thomann,Sascha R. Tittel,Egbert Voss,Rudolf Oeverink,Katja Palm,Susanne Fricke-Otto,Klaus Kapelari,Reinhard W. Holl,Joachim Woelfle andMarkus Bettendorf

Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype–Phenotype Correlation of POLG c.3286C>T Variant

The Impact of Seasonal Changes on Thyroxine and Thyroid-Stimulating Hormone in Newborns by Rebecca McMahon,Lenore DeMartino,Mycroft Sowizral,Diana Powers,Melissa Tracy,Michele Caggana andNorma P. Tavakoli

Introduction of Universal Newborn Screening for Sickle Cell Disease in Germany—A Brief Narrative Review by Stephan Lobitz,Joachim B. Kunz,Holger Cario,Dani Hakimeh,Andrea Jarisch,Andreas E. Kulozik,Lena Oevermann andRegine Grosse

Expanded Newborn Screening and Genomic Sequencing in Latin America and the Resulting Social Justice and Ethical Considerations by Juan F. Cabello,Fernando Novoa,Hanalise V. Huff andMarta Colombo

Robert Guthrie and the Trials and Tribulations of Newborn Screening by Harvey L. Levy

Acknowledgment to Reviewers of International Journal of Neonatal Screening in 2020 by International Journal of Neonatal Screening Editorial Office

Ethical Issues Surrounding Newborn Screening by R. Rodney Howell

Ethical and Psychosocial Implications of Genomic Newborn Screening by Harvey L. Levy

Newborn Screening for Cystic Fibrosis: Infant and Laboratory Factors Affecting Successful Sweat Test Completion by Ambika Shenoy,Dina Spyropoulos,Kathleen Peeke,Dawn Smith,Michael Cellucci andAaron Chidekel

At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening by Zoltan Lukacs,Petra Oliva,Paulina Nieves Cobos,Jacob Scott,Thomas P. Mechtler andDavid C. Kasper

Philippine Performance Evaluation and Assessment Scheme (PPEAS): Experiences in Newborn Screening System Quality Improvement by Carmencita D. Padilla,Bradford L. Therrell,Karen Asuncion R. Panol,Riza Concordia N. Suarez,Ma. Elouisa L. Reyes,Charity M. Jomento,Ebner Bon G. Maceda,Jovy Ann C. Lising,Frederick David E. Beltran andLita L. Orbillo

The Methodological Quality and Challenges in Conducting Economic Evaluations of Newborn Screening: A Scoping Review by Pasquale Cacciatore,Laurenske A. Visser,Nasuh Buyukkaramikli,Catharina P. B. van der Ploeg andM. Elske van den Akker-van Marle

The Cost-Effectiveness of Expanding the UK Newborn Bloodspot Screening Programme to Include Five Additional Inborn Errors of Metabolism by Alice Bessey,James Chilcott,Abdullah Pandor andSuzy Paisley

Evaluation of a Common Internal Standard Material to Reduce Inter-Laboratory Variation and Ensure the Quality, Safety and Efficacy of Expanded Newborn Screening Results When Using Flow Injection Analysis Tandem Mass Spectrometry with Internal Calibration by Rachel S. Carling,Catharine John,Philippa Goddard,Caroline Griffith,Simon Cowen,Christopher Hopley andStuart J. Moat

Newborn Screening for Mucopolysaccharidosis I: Moving Forward Learning from Experience by Lorne A. Clarke,Patricia Dickson,N. Matthew Ellinwood andTerri L. Klein

Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives by Francyne Kubaski,Inês Sousa,Tatiana Amorim,Danilo Pereira,Joe Trometer,Alexandre Souza,Enzo Ranieri,Giulia Polo,Alberto Burlina,Ana Carolina Brusius-Facchin,Alice Brinckmann Oliveira Netto,Shunji Tomatsu andRoberto Giugliani

Newborn Screening for Pompe Disease: Pennsylvania Experience by Can Ficicioglu,Rebecca C. Ahrens-Nicklas,Joshua Barch,Sanmati R. Cuddapah,Brenda S. DiBoscio,James C. DiPerna,Patricia L. Gordon,Nadene Henderson,Caitlin Menello,Nicole Luongo,Damara Ortiz andRui Xiao

A Biochemical Platform to Define the Relative Specific Activity of IDUA Variants Identified by Newborn Screening by Seok-Ho Yu,Laura Pollard,Tim Wood,Heather Flanagan-Steet andRichard Steet

Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature by Vincenza Gragnaniello,Daniela Gueraldi,Laura Rubert,Francesca Manzoni,Chiara Cazzorla,Antonella Giuliani,Giulia Polo,Leonardo Salviati andAlberto Burlina

Development of Strategies to Decrease False Positive Results in Newborn Screening by Sabrina Malvagia,Giulia Forni,Daniela Ombrone andGiancarlo la Marca

Instability of Acylcarnitines in Stored Dried Blood Spots: The Impact on Retrospective Analysis of Biomarkers for Inborn Errors of Metabolism by Willemijn J. van Rijt,Peter C. J. I. Schielen,Yasemin Özer,Klaas Bijsterveld,Fjodor H. van der Sluijs,Terry G. J. Derks andM. Rebecca Heiner-Fokkema

Challenges in Assessing the Cost-Effectiveness of Newborn Screening: The Example of Congenital Adrenal Hyperplasia by Scott D. Grosse andGuy Van Vliet

Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns by Patricia L. Hall,Hong Li,Arthur F. Hagar,S. Caleb Jerris,Angela Wittenauer andWilliam Wilcox

Translating Molecular Technologies into Routine Newborn Screening Practice

Validation and Implementation of a Highly Sensitive and Efficient Newborn Screening Assay for Mucopolysaccharidosis Type II

Digital Microfluidics in Newborn Screening for Mucopolysaccharidoses: A Progress Report by Jon Washburn andDavid S. Millington

Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening by Tania Vasquez-Loarte,John D. Thompson andJ. Lawrence Merritt

We All Have a Role to Play: Redressing Inequities for Children Living with CAH and Other Chronic Health Conditions of Childhood in Resource-Poor Settings by Kate Armstrong,Alain Benedict Yap,Sioksoan Chan-Cua,Maria E. Craig,Catherine Cole,Vu Chi Dung,Joseph Hansen,Mohsina Ibrahim,Hassana Nadeem,Aman Pulungan,Jamal Raza,Agustini Utari andPaul Ward

Harmonizing Newborn Screening Laboratory Proficiency Test Results Using the CDC NSQAP Reference Materials by Charles Austin Pickens,Maya Sternberg,Mary Seeterlin,Víctor R. De Jesús,Mark Morrissey,Adrienne Manning,Sonal Bhakta,Patrice K. Held,Joanne Mei,Carla Cuthbert andKonstantinos Petritis

Newborn Critical Congenital Heart Disease Screening Using Pulse Oximetry: Value and Unique Challenges in Developing Regions by Lisa A. Hom andGerard R. Martin

Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update by Barbara K. Burton,Rachel Hickey andLauren Hitchins

Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI by Elizabeth G. Ames,Rachel Fisher,Mary Kleyn andAyesha AhmadV

Update on the Swedish Newborn Screening for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency by Rolf H. Zetterström,Leif Karlsson,Henrik Falhammar,Svetlana Lajic andAnna Nordenström

CAH Newborn Screening in India: Challenges and Opportunities by Aashima Dabas,Meenakshi Bothra andSeema Kapoor

Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I by Zackary M. Herbst,Leslie Urdaneta,Terri Klein,Maria Fuller andMichael H. Gelb

The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients by Svetlana Lajic,Leif Karlsson,Rolf H. Zetterström,Henrik Falhammar andAnna Nordenström

Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy by Patrice K. Held,Ian M. Bird andNatasha L. Heather

Family Attitudes regarding Newborn Screening for Krabbe Disease: Results from a Survey of Leukodystrophy Registries by Karlita Blackwell,Michael H. Gelb,Anna Grantham,Natasha Spencer,Christin Webb andTara West

The Impact of Post-Analytical Tools on New York Screening for Krabbe Disease and Pompe Disease by Monica M. Martin,Ryan Wilson,Michele Caggana andJoseph J. Orsini

Landscape of Congenital Adrenal Hyperplasia Newborn Screening in the United States by Sari Edelman,Hiral Desai,Trey Pigg,Careema Yusuf andJelili Ojodu

Evaluation of a Two-Tier Screening Pathway for Congenital Adrenal Hyperplasia in the New South Wales Newborn Screening Programme by Fei Lai,Shubha Srinivasan andVeronica Wiley

The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in California by Hao Tang,Jamie Matteson,Piero Rinaldo,Silvia Tortorelli,Robert Currier andStanley Sciortino

Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening by Kenji Yamada,Kazunori Yokoyama,Kikumaro Aoki,Takeshi Taketani andSeiji Yamaguchi

The Early History of PKU by Louis I. Woolf andJohn Adams

Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency by MariaAnna Messina,Alessia Arena,Agata Fiumara,Riccardo Iacobacci,Concetta Meli andFederica Raudino

Establishing Pompe Disease Newborn Screening: The Role of Industry by Joan M. Keutzer

The Changing Face of Cystic Fibrosis and Its Implications for Screening

Pulse Oximetry and Congenital Heart Disease Screening: Results of the First Pilot Study in Morocco by Nadia El Idrissi Slitine,Fatiha Bennaoui,Craig A. Sable,Gerard R. Martin,Lisa A. Hom,Amal Fadel,Soufiane Moussaoui,Nadir Inajjarne,Drissi Boumzebra,Youssef Mouaffak,Said Younous,Lahcen Boukhanni andFadl Mrabih Rabou Maoulainine

Follow-Up for an Abnormal Newborn Screen for Severe Combined Immunodeficiencies (NBS SCID): A Clinical Immunology Society (CIS) Survey of Current Practices

Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses by Trine Tangeraas,Ingjerd Sæves,Claus Klingenberg,Jens Jørgensen,Erle Kristensen,Gunnþórunn Gunnarsdottir,Eirik Vangsøy Hansen,Janne Strand,Emma Lundman,Sacha Ferdinandusse,Cathrin Lytomt Salvador,Berit Woldseth,Yngve T. Bliksrud,Carlos Sagredo,Øyvind E. Olsen,Mona C. Berge,Anette Kjoshagen Trømborg,Anders Ziegler,Jin Hui Zhang,Linda Karlsen Sørgjerd,add Show full author list

Referral and Lost to System Rates of Two Newborn Hearing Screening Programs in Saudi Arabia by Ahmad A. Alanazi

Considerations for Newborn Screening for Critical Congenital Heart Disease in Low- and Middle-Income Countries by Bistra Zheleva,Sreehari M. Nair,Adriana Dobrzycka andAnnamarie Saarinen

Expanding Newborn Screening for Pompe Disease in the United States: The NewSTEPs New Disorders Implementation Project, a Resource for New Disorder Implementation by Kshea Hale,Yvonne Kellar-Guenther,Sarah McKasson,Sikha Singh andJelili Ojodu

It All Depends What You Count—The Importance of Definitions in Evaluation of CF Screening Performance by Natasha Heather andDianne Webster

Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia by Graham Sinclair,Vanessa McMahon,Amy Schellenberg,Tanya N. Nelson,Mark Chilvers andHilary Vallance

A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders by Karen A. Sanders,Dimitar K. Gavrilov,Devin Oglesbee,Kimiyo M. Raymond,Silvia Tortorelli,John J. Hopwood,Fred Lorey,Ramanath Majumdar,Charles A. Kroll,Amber M. McDonald,Jean M. Lacey,Coleman T. Turgeon,Justin N. Tucker,Hao Tang,Robert Currier,Grazia Isaya,Piero Rinaldo andDietrich Matern

Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots by Yogik Onky Silvana Wijaya,Jamiyan Purevsuren,Nur Imma Fatimah Harahap,Emma Tabe Eko Niba,Yoshihiro Bouike,Dian Kesumapramudya Nurputra,Mawaddah Ar Rochmah,Cempaka Thursina,Sunartini Hapsara,Seiji Yamaguchi,Hisahide Nishio andMasakazu Shinohara

Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data by Lene Sörensen,Ulrika von Döbeln,Henrik Åhlman,Annika Ohlsson,Martin Engvall,Karin Naess,Carolina Backman-Johansson,Yvonne Nordqvist,Anna Wedell andRolf H. Zetterström

Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing by Aashish N. Adhikari,Robert J. Currier,Hao Tang,Coleman T. Turgeon,Robert L. Nussbaum,Rajgopal Srinivasan,Uma Sunderam,Pui-Yan Kwok,Steven E. Brenner,Dimitar Gavrilov,Jennifer M. Puck andRenata Gallagher

Constructing a Bioethical Framework to Evaluate and Optimise Newborn Bloodspot Screening for Cystic Fibrosis by Rachael E. Armstrong,Lucy Frith,Fiona M. Ulph andKevin W. Southern