• Home
• About Us
• Login
• Register
• Archive
• Publication Ethics

Home > Issue 1 > Issue 1 (2023)

Summary

Articles

Secondary Reporting of G6PD Deficiency on Newborn Screening by Stephanie C. Hoang,Pamela Blumenschein,Margaret Lilley,Larissa Olshaski,Aisha Bruce,Nicola A. M. Wright,Ross Ridsdale andSusan Christian

A Cross-Sectional Survey of Pediatric Infectious Disease Physicians’ Approach to Congenital Cytomegalovirus Infection by Chieko Hoki,Michelle White,Megan H. Pesch,Ann J. Melvin andAlbert H. Park

A Positive Newborn Screen for Congenital Hypothyroidism in a Clinically Euthyroid Neonate—Avoiding Unnecessary Treatment by Ashleigh Brown,Paul Hofman,Bobby Li,Campbell Heron andNatasha Heather

Sickle Cell Disease Newborn Screening—An Audit of a Twin Island State Pilot Program by Shivon Belle Jarvis,Edda Hadeed,Ketty Lee,Marie-Dominique Hardy-Dessources,Jennifer M. Knight-Madden andClaudine Richardson

Multi-Laboratory Evaluation of Prototype Dried Blood Spot Quality Control Materials for Creatine Kinase-MM Newborn Screening Assays by Paul Dantonio,Norma P. Tavakoli,Brooke Migliore,Elizabeth McCown,Timothy Lim,Sunju Park,Michele Caggana,Katerina S. Kucera,Han Phan,Natalie Street,Konstantinos Petritis andRobert F. Vogt

Implications of Genomic Newborn Screening for Infant Mortality by Monica H. Wojcik andNina B. Gold

Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I by M. Christine Dorley,George J. Dizikes,Charles Austin Pickens,Carla Cuthbert,Khaja Basheeruddin,Fizza Gulamali-Majid,Paul Hetterich,Amy Hietala,Ashley Kelsey,Tracy Klug,Barbara Lesko,Michelle Mills,Shawn Moloney,Partha Neogi,Joseph Orsini,Douglas Singer andKonstantinos Petritis

Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase Deficiency by Jayakrishna Tippabathani,Venu Seenappa,Alagupandian Murugan,Nagaraja Mahishi Phani,Mahesh H. Hampe,Giridharan Appaswamy andPrakash Sadashiv Gambhir

Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor–Tezacaftor–Ivacaftor by Payal Patel,Jana Yeley,Cynthia Brown,Melissa Wesson,Barbara G. Lesko,James E. Slaven,James F. Chmiel,Raksha Jain andDon B. Sanders

Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France

Carnitine-acylcarnitine Translocase Deficiency with c.199-10T>G Mutation in Two Filipino Neonates Detected through Parental Carrier Testing by Suzanne Marie G. Carmona,Mary Ann R. Abacan andMaria Melanie Liberty B. Alcausin

Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway by Trine Tangeraas,Ulf W. Ljungblad,Elma Lutvica,Erle Kristensen,Alex D. Rowe,Anne-Lise Bjørke-Monsen,Terje Rootwelt-Revheim,Ingjerd Sæves andRolf D. Pettersen

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 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 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

Editorial for Special Issue “Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies”

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

Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry by Chengfang Tang,Lixin Li,Ting Chen,Yulin Li,Bo Zhu,Yinhong Zhang,Yifan Yin,Xiulian Liu,Cidan Huang,Jingkun Miao,Baosheng Zhu,Xiaohua Wang,Hui Zou,Lianshu Han,Jizhen Feng andYonglan Huang

Advancing Newborn Screening Long-Term Follow-Up: Integration of Epic-Based Registries, Dashboards, and Efficient Workflows by Katherine Raboin,Debra Ellis,Ginger Nichols,Marcia Hughes,Michael Brimacombe andKaren Rubin

Postponement of the Newborn Hearing Screening during the COVID-19 Pandemic; Parental Experiences and Worries by Rosanne B. van der Zee,Sanne L. Peet,Noëlle N. Uilenburg,Hedwig J. A. van Bakel andEvelien Dirks

Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS by Maria Miguel Gonçalves,Ana Marcão,Carmen Sousa,Célia Nogueira,Helena Fonseca,Hugo Rocha andLaura Vilarinho

Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK by Rachel S. Carling,Katy Hedgethorne,Anupam Chakrapani,Patricia L. Hall,Nick Flynn,Toby Greenfield,Stuart J. Moat,Joshua Ssali,Lynette Shakespeare,Nazia Taj,Teresa H. Y. Wu,Mark Anderson,Arunabha Ghosh,Hugh Lemonde,Germaine Pierre,Mark Sharrard,Sreevidya Sreekantam andJames R. Bonham

Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey by Kiran Moti Belaramani,Toby Chun Hei Chan,Edgar Wai Lok Hau,Matthew Chun Wing Yeung,Anne Mei Kwun Kwok,Ivan Fai Man Lo,Terry Hiu Fung Law,Helen Wu,Sheila Suet Na Wong,Shirley Wai Lam,Gladys Ha Yin Ha,Toby Pui Yee Lau,Tsz Ki Wong,Venus Wai Ching Or,Rosanna Ming Sum Wong,Wong Lap Ming,Jasmine Chi Kwan Chow,Eric Kin Cheong Yau,Antony Fu,Josephine Shuk Ching Chong,add Show full author list

Current Methods of Newborn Screening Follow-Up for Sickle Cell Disease Are Highly Variable and without Quality Assurance: Results from the ENHANCE Study by Najibah Galadanci,Shannon Phillips,Alyssa Schlenz,Nataliya Ivankova andJulie Kanter

Iowa Newborn Screening Program Experience with Hemoglobinopathy Screening over the Last Two Decades and Its Increasing Global Relevance by Ryan Jilek,Jennifer Marcy,Carol Johnson,Georgianne Younger,Amy Calhoun andMoon Ley Tung

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy by Gea Kiewiet,Dineke Westra,Eddy N. de Boer,Emma van Berkel,Tom G. J. Hofste,Martine van Zweeden,Ronny C. Derks,Nico F. A. Leijsten,Martina H. A. Ruiterkamp-Versteeg,Bart Charbon,Lennart Johansson,Janneke Bos-Kruizinga,Inge J. Veenstra,Monique G. M. de Sain-van der Velden,Els Voorhoeve,M. Rebecca Heiner-Fokkema,Francjan van Spronsen,Birgit Sikkema-Raddatz andMarcel Nelen

Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism by Toby Chun Hei Chan,Chloe Miu Mak,Matthew Chun Wing Yeung,Eric Chun-Yiu Law,Jana Cheung,Tsz Ki Wong,Vincent Wing-Sang Cheng,Jacky Kwan Ho Lee,Jimmy Chi Lap Wong,Cheuk Wing Fung,Kiran Moti Belaramani,Anne Mei Kwun Kwok andKwok Yeung Tsang

Psychosocial Impact of a True-Positive, False-Positive, or Inconclusive Newborn Bloodspot Screening Result: A Questionnaire Study among Parents by Lieke M. van den Heuvel,Sylvia M. van der Pal,Rendelien K. Verschoof-Puite,Jasmijn E. Klapwijk,Ellen Elsinghorst,Eugènie Dekkers,Catharina P. B. van der Ploeg andLidewij Henneman

New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center by Gwendolyn Gramer,Saskia B. Wortmann,Junmin Fang-Hoffmann,Dirk Kohlmüller,Jürgen G. Okun,Holger Prokisch,Thomas Meitinger andGeorg F. Hoffmann

History of Neonatal Screening of Congenital Hypothyroidism in Portugal by Maria José Costeira,Patrício Costa,Susana Roque,Ivone Carvalho,Laura Vilarinho andJoana Almeida Palha

Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan by Go Tajima,Junko Aisaki,Keiichi Hara,Miyuki Tsumura,Reiko Kagawa,Fumiaki Sakura,Hideo Sasai,Miori Yuasa,Yosuke Shigematsu andSatoshi Okada

Psychological Impact of Presymptomatic X-Linked ALD Diagnosis and Surveillance: A Small Qualitative Study of Patient and Parent Experiences by Cecilie S. Videbæk,Sabine W. Grønborg,Allan M. Lund andMette L. Olesen