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Home > Issue 2 > Issue 2 (2024)

Summary

Articles

The Psychosocial Impact of Congenital Cytomegalovirus on Caregivers and Families: Lived Experiences and Review of the Literature by Michelle P. Zappas,Amanda Devereaux andMegan H. Pesch

Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation by Kristina Mikhalchuk,Olga Shchagina,Alena Chukhrova,Viktoria Zabnenkova,Polina Chausova,Nina Ryadninskaya,Dmitry Vlodavets,Sergei I. Kutsev andAlexander Polyakov

Implementation of Newborn Hearing Screening in Albania by Andrea M. L. Bussé,Birkena Qirjazi,Allison R. Mackey,Jan Kik,André Goedegebure,Hans L. J. Hoeve,Ervin Toçi,Enver Roshi,Gwen Carr,Martijn S. Toll andHuibert J. Simonsz

Information and Parental Consent for French Neonatal Screening: A Qualitative Study on Parental Opinion by Julia Pinel,Amandine Bellanger,Carole Jamet andCaroline Moreau

Parental Awareness, Knowledge, and Attitudes Regarding Current and Future Newborn Bloodspot Screening: The First Report from Thailand by Kalyarat Wilaiwongsathien,Duangrurdee Wattanasirichaigoon,Sasivimol Rattanasiri,Chanatpon Aonnuam,Chayada Tangshewinsirikul andThipwimol Tim-Aroon

Foetal Haemoglobin as a Marker of Bone Marrow Suppression Secondary to Anti-Kell Alloimmunisation by Rodrigo Alfredo Morales Painamil,José Manuel González de Aledo-Castillo,Marta Teresa-Palacio,Ana Argudo-Ramírez,Rosa M. López-Galera,Abraham J. Paredes-Fuentes,Victoria Aldecoa-Bilbao andMiguel Alsina-Casanova

Infants with Congenital Diseases Identified through Newborn Screening—United States, 2018–2020 by Amy Gaviglio,Sarah McKasson,Sikha Singh andJelili Ojodu

Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations by Jovanka R. King,Kalle Grill andLennart Hammarström

Newborn Screening in a Pandemic—Lessons Learned

Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018 by Sikha Singh,Jelili Ojodu,Alex R. Kemper,Wendy K. K. Lam andScott D. Grosse

Newborn Screening Knowledge, Attitudes and Practices among Obstetrics-Gynecology Residents, Pediatric Residents, and Newborn Screening Nurses in a Tertiary Government Hospital in the Philippines during the COVID-19 Pandemic by Patrick Jose D. Padilla andEileen M. Manalo

Newborn Screening Long-Term Follow-Up Clinics (Continuity Clinics) in the Philippines during the COVID-19 Pandemic: Continuing Quality Patient Care by Ebner Bon G. Maceda,Michelle E. Abadingo,Karen Asuncion R. Panol,Frederick David E. Beltran,Ivy Rose C. Valdez-Acosta,Grandelee D. Taquiqui,Sharon B. Gawigawen,Maria Victoria L. Macalino,Laura Maria Soledad M. Aguirre-Aguinaldo,Marive A. Flores-Declaro,Karen June V. Ventilacion,Ma. Rita Anna Salve R. Boligao,Nancy G. Honor,Mirasol S. Ellong,Rona D. Ocho-Ortencio,Genelynne J. Beley,Maria Christina N. Bondoc-Eran,Bradford L. Therrell andCarmencita D. Padilla

A Retrospective Evaluation of the Predictive Value of Newborn Screening for Vitamin B12 Deficiency in Symptomatic Infants Below 1 Year of Age

Congenital Cytomegalovirus Screening in Massachusetts Birth Hospitals: A Statewide Survey by Cheryl K. Glovsky,Kendall Carroll,Naomi Clark,Peter Colleran,Vanessa Colleran,Shayne Gaffney,Margaret Kenna,Evelyn Kuhns-Rankin,Tracy Evans Luiselli,Talia Mango,Barbara Morris,Charlotte Mullen,Matthew Stenerson,Laura Gibson andMichael S. Cohen

Technical Study of Automated High-Throughput High-Sensitive Ceruloplasmin Assay on Dried Blood Spots—Reinstate the Potential Use for Newborn Screening of Wilson Disease by Chloe Miu Mak,Ching Tung Choi,Tsz Ki Wong,Hanson Heearn Chin,Hillman Kai Yin Lai andKoon Yu Yuet

Assessing the Content Quality of Online Parental Resources about Newborn Metabolic Disease Screening: A Content Analysis by Olivia M. Y. Ngan,Wing Ki Wong,Janice Ching Tam andChi Kong Li

Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories by Michael H. Gelb,Khaja Basheeruddin,Alberto Burlina,Hsiao-Jan Chen,Yin-Hsiu Chien,George Dizikes,Christine Dorley,Roberto Giugliani,Amy Hietala,Xinying Hong,Shu-Min Kao,Hamid Khaledi,Tracy Klug,Francyne Kubaski,Hsuan-Chieh Liao,Monica Martin,Adrienne Manning,Joseph Orsini,Yin Peng,Enzo Ranieri,add Show full author list

A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease by Kabir Jalal,Randy L. Carter,Amy Barczykowski,Shunji Tomatsu andThomas J. Langan

Inconsistent Provider Testing Practices for Congenital Cytomegalovirus: Missed Diagnoses and Missed Opportunities by Kate L. Wilson,Kimi Shah andMegan H. Pesch

Parental Depression and Anxiety Associated with Newborn Bloodspot Screening for Rare and Variable-Onset Disorders by Natalie A. Boychuk,Niamh S. Mulrooney,Nicole R. Kelly,Aaron J. Goldenberg,Ellen J. Silver andMelissa P. Wasserstein

Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors by Martin Kharrazi,Charlene Sacramento,Anne Marie Comeau,Jaime E. Hale,Michele Caggana,Denise M. Kay,Rachel Lee,Brendan Reilly,John D. Thompson,Samya Z. Nasr,Mary Kleyn,Gary Hoffman,Mei W. Baker,Colleen Clarke,Cheryl L. Harris,M. Christine Dorley,Hilary Fryman,Ankit Sutaria,Amy Hietala,Holly Winslow,add Show full author list

Multiple 17-OHP Cutoff Co-Variates Fail to Improve 21-Hydroxylase Deficiency Screening Accuracy by Preet K. Matharu,Patrice K. Held andDavid B. Allen

Evaluation of a New Laboratory Protocol for Newborn Screening for Congenital Adrenal Hyperplasia in New Zealand by Mark R. de Hora,Natasha L. Heather,Dianne R. Webster,Benjamin B. Albert andPaul L. Hofman

Addition of MPS-II to the Recommended Uniform Screening Panel in the United States

Parental Preferences about Policy Options Regarding Disclosure of Incidental Genetic Findings in Newborn Screening: Using Videos and the Internet to Educate and Obtain Input by Michael H. Farrell,Katherine E. Mooney,Anita Laxova andPhilip M. Farrell

Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis by Audrey Tluczek,Anne L. Ersig andShinhyo Lee

Changes in the Incidence of Infantile Spinal Muscular Atrophy in Shikoku, Japan between 2011 and 2020 by Kentaro Okamoto,Hisahide Nishio,Takahiro Motoki,Toshihiro Jogamoto,Kaori Aibara,Yoichi Kondo,Kentaro Kawamura,Yukihiko Konishi,Chiho Tokorodani,Ritsuo Nishiuchi andMariko Eguchi

Newborn Screening Is on a Collision Course with Public Health Ethics by Robert J. Currier

Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot by Michael J. Hartnett,Michele A. Lloyd-Puryear,Norma P. Tavakoli,Julia Wynn,Carrie L. Koval-Burt,Dorota Gruber,Tracy Trotter,Michele Caggana,Wendy K. Chung,Niki Armstrong andAmy M. Brower

Developing an Online Dashboard to Visualize Performance Data—Tennessee Newborn Screening Experience

Family Perspectives on Newborn Screening for X-Linked Adrenoleukodystrophy in California

A Novel System for Spinal Muscular Atrophy Screening in Newborns: Japanese Pilot Study

Next Generation Sequencing in Newborn Screening in the United Kingdom National Health Service

Development of a Multiplex Real-Time PCR Assay for the Newborn Screening of SCID, SMA, and XLA by Cristina Gutierrez-Mateo,Anne Timonen,Katja Vaahtera,Markku Jaakkola,David M Hougaard,Jonas Bybjerg-Grauholm,Marie Baekvad-Hansen,Dea Adamsen,Galina Filippov,Stephanie Dallaire,David Goldfarb,Daniel Schoener andRongcong Wu

Incidence of Glucose-6-Phosphate Dehydrogenase Deficiency among Swedish Newborn Infants by Annika Ohlsson,Katarina Rehnholm,Kumar Shubham andUlrika von Döbeln

Newborn Screening: Current Status in Alberta, Canada by Andy De Souza,Vanessa Wolan,Angie Battochio,Susan Christian,Stacey Hume,Grace Johner,Margaret Lilley,Ross Ridsdale,Kareena Schnabl,Chi Tran,Jolene Yuen-Jung andIveta Sosova

Factors Influencing Parental Awareness about Newborn Screening by Věra Franková,Alena Dohnalová,Karolína Pešková,Renata Hermánková,Riona O’Driscoll,Pavel Ješina andViktor Kožich

Development of National Newborn Screening Quality Indicators in the United States by Careema Yusuf,Marci K. Sontag,Joshua Miller,Yvonne Kellar-Guenther,Sarah McKasson,Scott Shone,Sikha Singh andJelili Ojodu

Wisconsin’s Screening Algorithm for the Identification of Newborns with Congenital Adrenal Hyperplasia by Eric R. Bialk,Michael R. Lasarev andPatrice K. Hel

Initial Evaluation of Prospective and Parallel Assessments of Cystic Fibrosis Newborn Screening Protocols in Eastern Andalusia: IRT/IRT versus IRT/PAP/IRT by Ilham Sadik,Inmaculada Pérez de Algaba,Rocío Jiménez,Carmen Benito,Javier Blasco-Alonso,Pilar Caro,Víctor M. Navas-López,Javier Pérez-Frías,Estela Pérez,Juliana Serrano andRaquel Yahyaoui

The Reliable, Automatic Classification of Neonates in First-Tier MALDI-MS Screening for Sickle Cell Disease by Marven El Osta,Pierre Naubourg,Olivier Grunewald,Gilles Renom,Patrick Ducoroy andJean Marc Périni

Newborn Sickle Cell and Thalassaemia Screening Programme: Automating and Enhancing the System to Evaluate the Screening Programme by Catherine Coppinger andRobyn O’Loughlin

A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned by Kristen N. Wong,Melissa McIntyre,Sabina Cook,Kim Hart,Amelia Wilson,Sarah Moldt,Andreas Rohrwasser andRussell J. Butterfield

Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report by Evelina Maines,Roberto Franceschi,Francesca Rivieri,Giovanni Piccoli,Björn Schulte,Jessica Hoffmann,Andrea Bordugo,Giulia Rodella,Francesca Teofoli,Monica Vincenzi,Massimo Soffiati andMarta Camilot

Impact of Lowering TSH Cut-Off on Neonatal Screening for Congenital Hypothyroidism in Minas Gerais, Brazil by Nathalia Teixeira Palla Braga,Jáderson Mateus Vilela Antunes,Enrico Antônio Colosimo,Vera Maria Alves Dias,José Nélio Januário andIvani Novato Silva

CDC’s Laboratory Activities to Support Newborn Screening for Spinal Muscular Atrophy by Francis K. Lee,Christopher Greene,Kristina Mercer,Jennifer Taylor,Golriz Yazdanpanah,Robert Vogt,Rachel Lee,Carla Cuthbert andSuzanne Cordovado

One-Year Pilot Study Results of Newborn Screening for Spinal Muscular Atrophy in the Republic of Croatia by Darija Šimić,Ana Šarić,Ana Škaričić,Ivan Lehman,Branka Bunoza,Ivana Rako andKsenija Fumić

Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy by Katy Cooper,Gamze Nalbant,Anthea Sutton,Sue Harnan,Praveen Thokala,Jim Chilcott,Alisdair McNeill andAlice Bessey

Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic Counseling by Susan Howell,Shanlee M. Davis,Billie Carstens,Mary Haag,Judith L. Ross andNicole R. Tartaglia

Counting Conditions on Newborn Bloodspot Screening Panels in Australia and New Zealand by Natasha Heather,Ronda F. Greaves,Kaustuv Bhattacharya,Lawrence Greed,James Pitt,Carol Wai-Kwan Siu,Mark de Hora,Ricky Price,Enzo Ranieri,Tiffany Wotton andDianne Webster

Evaluation of the Newborn Screening Pilot for Sickle Cell Disease in Suriname Using the Non-Adoption, Abandonment, Scale-Up, Spread, and Sustainability (NASSS) Framework by Ming-Jan Tang,Jimmy Roosblad,John Codrington,Marjolein Peters,Aartie Toekoen,Patrick F. van Rheenen andAmadu Juliana

Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK by Karen Bean,Simon A. Jones,Anupam Chakrapani,Suresh Vijay,Teresa Wu,Heather Church,Charlotte Chanson,Andrew Olaye,Beckley Miller,Ivar Jensen andFrancis Pang

One Size Does Not Fit All: A Multifaceted Approach to Educate Families about Newborn Screening by Marianna H. Raia,Molly M. Lynch,Alyson C. Ward,Jill A. Brown,Natasha F. Bonhomme andVicki L. Hunting

Charting the Course: Towards a Comprehensive Newborn Screening Program in India by Seema Kapoor,Amit Kumar Gupta andB. K. Thelma

The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges by Alex J. Ashenden,Ayesha Chowdhury,Lucy T. Anastasi,Khoa Lam,Tomas Rozek,Enzo Ranieri,Carol Wai-Kwan Siu,Jovanka King,Emilie Mas andKarin S. Kassahn

Age-Related Blood Levels of Creatine Kinase-MM in Newborns and Patients with Duchenne Muscular Dystrophy: Considerations for the Development of Newborn Screening Algorithms by Sarah Nelson Potter,Brooke Migliore,Javan Carter,Veronica R. Copeland,Edward C. Smith,Holly L. Peay andKaterina S. Kucera

The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear by Stella Knöpfli,Bernadette Goeschl,Maximilian Zeyda,Anna Baghdasaryan,Margot Baumgartner-Kaut,Matthias R. Baumgartner,Marion Herle,Julian Margreitter,Martin Poms,Saskia B. Wortmann,Vassiliki Konstantopoulou andMartina Huemer

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023) by Bradford L. Therrell,Carmencita D. Padilla,Gustavo J. C. Borrajo,Issam Khneisser,Peter C. J. I. Schielen,Jennifer Knight-Madden,Helen L. Malherbe andMarika Kase

Defining the Minimal Long-Term Follow-Up Data Elements for Newborn Screening by Yvonne Kellar-Guenther,Lauren Barringer,Katherine Raboin,Ginger Nichols,Kathy Y. F. Chou,Kathy Nguyen,Amy R. Burke,Sandy Fawbush,Joyal B. Meyer,Morna Dorsey,Amy Brower,Kee Chan,Mei Lietsch,Jennifer Taylor,Michele Caggana andMarci K. Sontag

Economic Rationality in Decision-Making Regarding Newborn Screening: A Case Study in Quebec by Van Hoa Ho,Yves Giguère andDaniel Reinharz

Evaluation of the First Three Years of Treatment of Children with Congenital Hypothyroidism Identified through the Alberta Newborn Screening Program by Iveta Sosova,Alyssa Archibald,Erik W. Rosolowsky,Sarah Rathwell,Susan Christian andElizabeth T. Rosolowsky

Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening by Mei Lietsch,Kee Chan,Jennifer Taylor,Bo Hoon Lee,Emma Ciafaloni,Jennifer M. Kwon,Megan A. Waldrop,Russell J. Butterfield,Geetanjali Rathore,Aravindhan Veerapandiyan,Arya Kapil,Julie A. Parsons,Melissa Gibbons andAmy Brower

Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy

International Perspectives of Extended Genetic Sequencing When Used as Part of Newborn Screening to Identify Cystic Fibrosis by Corinna C. A. Clark,Pru Holder,Felicity K. Boardman,Louise Moody,Jacqui Cowlard,Lorna Allen,Claire Walter,James R. Bonham andJane Chudleigh

Newborn Screening Today and Tomorrow: A Brief Report from the International Primary Immunodeficiencies Congress by Leire Solis,Samya Van Coillie,James R. Bonham,Fabian Hauck,Lennart Hammarström,Frank J. T. Staal,Bruce Lim,Martine Pergent andJohan Prévot

Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review by Maria Al Bandari,Laura Nagy,Vivian Cruz,Stacy Hewson,Alomgir Hossain andMichal Inbar-Feigenberg