Issue 4 (2022)

Summary

Articles

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
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 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
by Charles Lechner,Marc Rumpler,Mary Christine Dorley,Yinmei Li,Amanda Ingram andHilary Fryman
Family Perspectives on Newborn Screening for X-Linked Adrenoleukodystrophy in California
A Novel System for Spinal Muscular Atrophy Screening in Newborns: Japanese Pilot Study
by Masakazu Shinohara,Emma Tabe Eko Niba,Yogik Onky Silvana Wijaya,Izumi Takayama,Chisako Mitsuishi,Sakae Kumasaka,Yoichi Kondo,Akihiro Takatera,Isamu Hokuto,Ichiro Morioka,Kazutaka Ogiwara,Kimimasa Tobita,Atsuko Takeuchi,Hisahide Nishio andfor the SMA-NBS PILOT STUDY GROUP
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