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Home > Issue 3 > Issue 3 (2023)

Summary

Articles

Comparison between Gibson–Cooke and Macroduct Methods in the Cystic Fibrosis Neonatal Screening Program and in Subjects Who Are Cystic Fibrosis Screen-Positive with an Inconclusive Diagnosis by Daniela Dolce,Cristina Fevola,Erica Camera,Tommaso Orioli,Ersilia Lucenteforte,Marco Andrea Malanima,Giovanni Taccetti andVito Terlizzi

Identifying Clinical Criteria for an Expanded Targeted Approach to Screening for Congenital Cytomegalovirus Infection—A Retrospective Study by Maya Heled Akiva,Hannah Hyde-De Sousa,Valerie Lamarre,Isabelle Boucoiran,Soren Gantt,Christian Renaud andFatima Kakkar

Development of a Model for Quantitative Assessment of Newborn Screening in Japan Using the Analytic Hierarchy Process by Keiko Konomura,Eri Hoshino,Kotomi Sakai,Takashi Fukuda andGo Tajima

Communicating a Positive Result at Newborn Screening and Parental Distress by Elisa Lastrucci,Marta Daniotti,Elena Procopio,Giusi Scaturro,Flavia Tubili,Rosanna Martin andGiancarlo la Marca

A Qualitative Assessment of Clinical Practice Guidelines and Patterns for Congenital Cytomegalovirus in the United States by Stephanie Kalb,John Diaz-Decaro,Harout Tossonian,Andrew Natenshon,Lori Panther,James Mansi andLaura Gibson

Age-Based Genomic Screening during Childhood: Ethical and Practical Considerations in Public Health Genomics Implementation by Laura V. Milko andJonathan S. Berg

Is Our Newborn Screening Working Well? A Literature Review of Quality Requirements for Newborn Blood Spot Screening (NBS) Infrastructure and Procedures by Birgit Odenwald,Inken Brockow,Marianne Hanauer,Anja Lüders andUta Nennstiel

Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots

Comparison of Overall Sensitivity and Specificity across Different Newborn Screening Algorithms for Congenital Cytomegalovirus by Mark R. Schleiss,Lori Panther,Sandeep Basnet,Meklit Workneh andJohn Diaz-Decaro

Multiplexing Iduronate-2-Sulphatase (MPS-II) into a 7-Plex Lysosomal Storage Disorder MS/MS Assay Using Cold-Induced Phase Separation

Newborn Screening for Fabry Disease: Current Status of Knowledge by Vincenza Gragnaniello,Alessandro P. Burlina,Anna Commone,Daniela Gueraldi,Andrea Puma,Elena Porcù,Maria Stornaiuolo,Chiara Cazzorla andAlberto B. Burlina

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

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

Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm

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

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

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