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Home > Issue 2 > Issue 2 (2023)

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 by Matej Mlinaric,James R. Bonham,Viktor Kožich,Stefan Kölker,Ondrej Majek,Tadej Battelino,Ana Drole Torkar,Vanesa Koracin,Dasa Perko,Ziga Iztok Remec,Barbka Repic Lampret,Maurizio Scarpa,Peter C. J. I. Schielen,Rolf H. Zetterström andUrh Groselj

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

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