Works about NEWBORN screening

Results: 3257

An Integrated Solution for Application of Next-Generation Sequencing in Newborn Screening.

Published in:

Clinical Laboratory, 2025, v. 71, n. 5, p. 803, doi. 10.7754/Clin.Lab.2024.241006

By:

Zhong-Yao Xu;
Shuo-Dan Huang;
Jie Zou;
Wei-Hong Zeng;
Yong-Chao Guo;
Jian-Hui Jiang

Publication type:

Article

Ensuring Our Children Can Hear: Are We Doing Enough?

Published in:

IIUM Medical Journal Malaysia, 2025, v. 24, n. 2, p. 1

By:

Sidek, Dinsuhaimi

Publication type:

Article

Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in Australian Hospitals.

Published in:

Neurology & Therapy, 2025, v. 14, n. 3, p. 1007, doi. 10.1007/s40120-025-00744-8

By:

Woodcock, Ian R.;
Kariyawasam, Didu S.;
Kava, Maina P.;
Yiu, Eppie M.;
Clark, Damian;
Adams, Jane;
Bischof, Matthias;
Peacock, Adrian;
Taylor, Colman;
Smith, Nicholas J. C.

Publication type:

Article

Newborn Screening Followed By Early Treatment is Essential to Improve Survival in SCID.

Published in:

Journal of Clinical Immunology, 2025, v. 45, n. 1, p. 1, doi. 10.1007/s10875-025-01887-x

By:

Goebel, Gabriela Assunção;
Cunha, Luciana Araújo Oliveira;
Minafra, Fernanda Gontijo;
Pinto, Jorge Andrade

Publication type:

Article

TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03692-6

By:

Saier, Christina;
Sansen, Stefaan;
Berghout, Joanne;
Freyler, Kathrin;
Einhorn, Moshe;
Einhorn, Yaron;
Matalonga, Leslie;
Beltran, Sergi;
Novelli, Antonio;
Selvatici, Rita;
Fortunato, Fernanda;
Montanari, Silvia;
Martinez-Fresno, Maria;
Gumus, Gulcin;
Agolini, Emanuele;
Garnier, Nicolas;
Ferlini, Alessandra;
Bertini, Enrico;
Kirschner, Janbernd

Publication type:

Article

Assessing newborn scoring with each resuscitation (ANSWER): Protocol for identifying and testing an Apgar score for the 21<sup>st</sup> century.

Published in:

PLoS ONE, 2025, v. 20, n. 5, p. 1, doi. 10.1371/journal.pone.0323571

By:

Rozycki, Henry J.;
Foglia, Elizabeth E.;
Yitayew, Miheret S.;
Herrick, Heidi M.

Publication type:

Article

Clinical Pearl: When It Comes to Neurodevelopmental Outcomes for Extremely Preterm Infants, Parents' Perspectives, Especially Regarding their Babies' Functional Capabilities, are Just as Important.

Published in:

Neonatology Today, 2025, v. 20, n. 4, p. 223

By:

Hageman, Joseph R.;
Pellerite, Matthew;
Alkureishi, Lolita Alcocer;
Goldstein, Mitchell

Publication type:

Article

HHS Scraps Advisory Committee on Newborn Screening.

Published in:

Neonatology Today, 2025, v. 20, n. 4, p. 178

By:

Henderson, Jennifer

Publication type:

Article

Neonatal Seizures and White Matter Injury in a Newborn.

Published in:

Clinical Pediatrics, 2025, v. 64, n. 5, p. 742, doi. 10.1177/00099228241285539

By:

Rubino, Carlotta;
Boetti, Tatiana;
Borro, Tiziana;
Tocchet, Aba;
Morana, Giovanni;
Campagnoli, Maria Francesca

Publication type:

Article

Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-01975-z

By:

Gragnaniello, Vincenza;
Puma, Andrea;
Gueraldi, Daniela;
D'Errico, Ignazio;
Cazzorla, Chiara;
Loro, Christian;
Porcù, Elena;
Salviati, Leonardo;
Burlina, Alberto B.

Publication type:

Article

Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China.

Published in:

Genome Medicine, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13073-025-01483-z

By:

Wang, Xin;
Sun, Yun;
Guan, Xian-Wei;
Wang, Yan-Yun;
Hong, Dong-Yang;
Zhang, Zhi-Lei;
Li, Ya-Hong;
Yang, Pei-Ying;
jiang, Tao;
Xu, Zheng-feng

Publication type:

Article

Transillumination Test as a Bedside Screening and Assessment Tool in Neonates and Infants with Hydrocephalus.

Published in:

Malaysian Journal of Medical Sciences, 2025, v. 32, n. 1, p. 188, doi. 10.21315/mjms-11-2024-900

By:

MURUGASAN, Karrthik;
WEI MING, Eddie Lim;
CALWIN, Lee;
RAJENDRAN, Balamurugan

Publication type:

Article

Delineating Neuroanatomical Structures for the Measurement of Temporal Horn Dilatation.

Published in:

Malaysian Journal of Medical Sciences, 2025, v. 32, n. 1, p. 181, doi. 10.21315/mjms-01-2025-077

By:

MUTHALAGAN, Devalagan;
Kia Hooi TAN;
SAPIAI, Nur Asma;
MOHD ISMAIL, Zul Izhar;
MUKHTAR, Siti Fatimah;
Wei Siong NG;
Siew Chung MAH

Publication type:

Article

Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00497-1

By:

Keefe, Alexandra C.;
Jensen, Dana M.;
Pham, Meranda M.;
Au, Natalie Y T;
Beckman, Erika;
Penon-Portmann, Monica;
Shelkowitz, Emily;
Bend, Renee;
Morrow, Michelle M.;
Kruszka, Paul;
Vats, Divya;
Russell, Bianca E.;
Chan, Erica;
Wong, Derek;
Rabani, Ahna;
O'Grady, Lauren;
Sahai, Inderneel;
Widmeyer, Kimberly;
Sperry, Ethan D.;
Hallinan, Barbara E.

Publication type:

Article

Iodine deficiency in pregnant women through neonatal tsh assessment study retrospective of neonatal screening in Romania.

Published in:

Romanian Journal of Medical Practice, 2024, v. 19, n. 4, p. 390, doi. 10.37897/RJMP.2024.4.3

By:

NANU, Michaela;
DELIA, Corina;
TOMA, Geanina;
NANU, Ioana;
KOZMA, Andrei;
MARINCA, Delia

Publication type:

Article

Comprehensive analysis of 1103 infants referred to a single center due to positive newborn screening test for phenylketonuria.

Published in:

Turkish Journal of Pediatrics, 2025, v. 67, n. 2, p. 175, doi. 10.24953/turkjpediatr.2025.5263

By:

Kahraman, Ayça Burcu;
Çıkı, Kısmet;
Poşul, Begüm;
Güvercin, Mustafa;
Yıldız, Yılmaz;
Dursun, Ali;
Sivri, Serap;
Coşkun, Turgay;
Tokatlı, Ayşegül

Publication type:

Article

Analysis of newborn hearing screenings from 2018-2022.

Published in:

Annals of Medical of Research, 2025, v. 32, n. 4, p. 139, doi. 10.5455/annalsmedres.2025.01.017

By:

Aksoy, Ahmet;
Sapci, Baris;
Sapci, Melek Kekul

Publication type:

Article

The nurse’s role in assisting with a lumbar puncture in an infant or child.

Published in:

Nursing Children & Young People, 2025, v. 37, n. 3, p. 34, doi. 10.7748/ncyp.2024.e1535

By:

Rees, Coral;
Towriss, Caroline

Publication type:

Article

Acceptability of Newborn Screening for Sickle Cell Disease Among Pregnant Women in Bukavu, Democratic Republic of the Congo: Factors Associated With Uptake and Implications for Public Health.

Published in:

Anemia (20901267), 2025, v. 2025, p. 1, doi. 10.1155/anem/3189576

By:

Nangunia, Nash Mwanza;
Mukuku, Olivier;
Feza, Viviane Bianga;
Kyembwa, Yves Mulindilwa;
Kabesha, Théophile Barhwamire;
Mutombo, André Kabamba;
Wembonyama, Stanislas Okitotsho;
Naaz, Shamreen

Publication type:

Article

Mapping neonatal hearing screening services in Cape Town metro: A situational analysis.

Published in:

African Journal of Primary Health Care & Family Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.4102/phcfm.v16i1.4386

By:

Louw, Petronella H.;
Odendaal, Tara;
Ramma, Lebogang

Publication type:

Article

Newborn screening for congenital adrenal hyperplasia: Utility of liquid chromatography with tandem mass spectrometry as a secondary test.

Published in:

Clinical Pediatric Endocrinology, 2025, v. 34, n. 1, p. 13, doi. 10.1297/cpe.2024-0069

By:

Toshihiro Tajima

Publication type:

Article

Psychometric properties of the Turkish version of the neonatal eating assessment tool-breastfeeding (NeoEAT–Breastfeeding).

Published in:

BMC Nursing, 2025, v. 24, n. 1, p. 1, doi. 10.1186/s12912-025-03120-x

By:

Gözen, Duygu;
Aykanat Girgin, Burcu;
Pados, Britt;
Çarikçi, Fatma;
Kul, Yağmur

Publication type:

Article

Metabolite biomarkers of screening neonatal congenital hypothyroidism based on dried blood spot metabolomics.

Published in:

Analytical & Bioanalytical Chemistry, 2025, v. 417, n. 13, p. 2889, doi. 10.1007/s00216-025-05828-w

By:

Guo, Xingyu;
Suo, Feng;
Wang, Yuting;
Yu, Di;
Wang, Yi;
Dong, Bulian;
Gou, Lingshan;
Gan, Xinhui;
Wang, Benjing;
Yu, Chaowen;
Xie, Xiaoxiang;
Linghu, Dandan;
Liu, Xinyu;
Gu, Maosheng;
Xu, Guowang

Publication type:

Article

Novel ACAD8 variants identified in Isobutyryl-CoA dehydrogenase deficiency: challenges in phenotypic variability and management.

Published in:

2025

By:

Tao, Yilun;
Han, Dong;
Li, Jianfang;
Li, Xiaoyun;
Hao, Luna;
Song, Wenxia;
Wang, Lihong;
Li, Xiaoze

Publication type:

Case Study

Prevalence and Demographic Analysis of Hemoglobinopathies in Newborns: A Three-Year Study at Thumbay Teaching Hospital, Ajman-UAE.

Published in:

2025

By:

Alfeel, Ayman Hussein;
Yousif, Tagwa Yousif Elsayed;
Abdelmola, Ammar;
Kumar, Praveen;
Osman, Hussam Ali;
Elshaikh, Rabab Hassan;
Saboor, Muhammad;
Hussein, Salah Omar;
Ali, Elryah I;
Elbashir, Izzeldin

Publication type:

Case Study

Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03679-3

By:

Giugliani, Roberto;
Solomon, Faryn;
Kushlaf, Hani;
Wright, Erica;
Haselkorn, Tmirah;
Zanoteli, Edmar;
Schoser, Benedikt

Publication type:

Article

Effects of perinatal variables on echocardiographic assessments of left ventricular dimensions in infants born large for gestational age: a prospective cohort analysis.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-01945-5

By:

Amarah, Ahmed;
Elmakaty, Ibrahim;
Nadroo, Iram;
Chhabra, Manoj;
Hoang, Danthanh;
Suk, Debbie;
Nadroo, Ali M.;
Ron, Nitin;
Dygulska, Beata;
Gudavalli, Madhu B.;
Narula, Pramod;
Gad, Ashraf

Publication type:

Article

Advancing Educational Equity for Children With Hearing Loss: Celebrating the 50th Anniversary of the Individuals With Disability Education Act (IDEA).

Published in:

ORL-Head & Neck Nursing, 2025, v. 43, n. 2, p. 40

By:

Brenner, Clinton R.;
Pandian, Alwyn T.;
Hughes, Sarah E.;
Stach, Casey J.;
Thomas, Ellen S.;
Vereb, Anita F.;
Pleasant, Terence K.;
Khang, Erin M.;
Estheimer, Kris

Publication type:

Article

Uso de analgesia epidural y valores de pH y Apgar del recién nacido.

Published in:: Metas de Enfermería, 2017, v. 20, n. 6, p. 55
Publication type:: Article

Cribado neonatal en la Comunidad Autónoma de Aragón. Guía práctica.

Published in:

Metas de Enfermería, 2015, v. 18, n. 6, p. 58

By:

Díaz Estrella, Ana;
Vaz Rodríguez, José Antonio

Publication type:

Article

Pediatric Monitoring Using the Right Algorithms.

Published in:

RT: The Journal for Respiratory Care Practitioners, 2017, v. 30, n. 1, p. 18

By:

Rimler, Rose

Publication type:

Article

A comparison of Truview infant EVO2 laryngoscope with the Miller blade in neonates and infants.

Published in:

Pediatric Anesthesia, 2009, v. 19, n. 4, p. 338, doi. 10.1111/j.1460-9592.2009.02929.x

By:

Singh, Ranju;
Singh, Pushpinder;
Vajifdar, Homay

Publication type:

Article

Internal jugular vein diameter in pediatric patients: are the J-shaped guidewire diameters bigger than internal jugular vein? An evaluation with ultrasound.

Published in:

Pediatric Anesthesia, 2008, v. 18, n. 8, p. 745, doi. 10.1111/j.1460-9592.2008.02631.x

By:

Sayin, Murat M.;
Mercan, Arzu;
Koner, Ozge;
Ture, Hatice;
Celebi, Suheda;
Sozubir, Selami;
Aykac, Bora

Publication type:

Article

Performance of a risk factor‐based approach in the detection of small for gestational age neonates: A cohort study.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2023, v. 63, n. 3, p. 321, doi. 10.1111/ajo.13620

By:

Wan, Anna;
Zampogna, Christopher;
Reddy, Maya;
Robinson, Alice;
Hodges, Ryan;
Rolnik, Daniel Lorber

Publication type:

Article

Clinical evaluation of a first trimester pregnancy algorithm predicting the risk of small for gestational age neonates.

Published in:

Australian & New Zealand Journal of Obstetrics & Gynaecology, 2019, v. 59, n. 5, p. 670, doi. 10.1111/ajo.12951

By:

Graham, Kathryn;
Park, Felicity;
McLennan, Andrew;
Pelosi, Marilena;
Williams, Paul;
Poon, Liona C.;
Hyett, Jon

Publication type:

Article

National screening for delirium in paediatric intensive care units: A quality improvement initiative.

Published in:

Nursing in Critical Care, 2025, v. 30, n. 2, p. 1, doi. 10.1111/nicc.13303

By:

Blackwood, Bronagh;
Aitken, Leanne M.;
Craske, Jennie;
Gala‐Peralta, Sandra;
Liew, Ashley;
Murray, Maeve;
McIlmurray, Lisa;
Tume, Lyvonne N.

Publication type:

Article

A scoping review and narrative synthesis of neonatal skin injury severity scales.

Published in:

Nursing in Critical Care, 2024, v. 29, n. 6, p. 1687, doi. 10.1111/nicc.13018

By:

August, Deanne;
Hall, Stephanie;
Marsh, Nicole;
Coyer, Fiona

Publication type:

Article

Mandatory versus Voluntary Consent for Newborn Screening?

Published in:

Kennedy Institute of Ethics Journal, 2010, v. 20, n. 4, p. 299, doi. 10.1353/ken.2010.a413516

By:

Ross, Lainie Friedman

Publication type:

Article

Late diagnosis of anorectal malformation: how good is good enough?

Published in:

Pediatric Surgery International, 2024, v. 40, n. 1, p. 1, doi. 10.1007/s00383-024-05765-2

By:

Davidson, Joseph;
Zaparackaite, Indre;
Holbrook, Charlotte;
Thakkar, Hemanshoo

Publication type:

Article

Home-based color card screening for biliary atresia: the first steps for implementation of a nationwide newborn screening in Germany.

Published in:

2019

By:

Madadi-Sanjani, Omid;
Blaser, J.;
Voigt, G.;
Kuebler, J. F.;
Petersen, C.

Publication type:

journal article

Use of serum citrulline concentrations from routine newborn screen as a biomarker for necrotizing enterocolitis.

Published in:

2019

By:

Babu, Sharmila;
Prasad, Malavika;
Miller, Malki;
Morrissey, Mark;
Bhutada, Alok;
Rojas, Mary;
Rastogi, Shantanu

Publication type:

journal article

Newborn screening for biliary atresia in the United States.

Published in:

2017

By:

Goodhue, Cat;
Fenlon, Michael;
Wang, Kasper;
Wang, Kasper S

Publication type:

journal article

Improving the rigour of VACTERL screening for neonates with anorectal malformations.

Published in:

2017

By:

England, Richard;
Eradi, Bala;
Murthi, Govind;
Sutcliffe, Jonathan;
England, Richard John;
Murthi, Govind V

Publication type:

journal article

Improvement of survival in infants with congenital diaphragmatic hernia in recent years: effect of ECMO availability and associated factors.

Published in:

2010

By:

Kattan, Javier;
Godoy, Loreto;
Zavala, Alejandro;
Faunes, Miriam;
Becker, Pedro;
Estay, Alberto;
Fabres, Jorge;
Toso, Paulina;
Urzúa, Soledad;
Becker, Jorge;
Cerda, Jaime;
González, Alvaro;
Urzúa, Soledad;
González, Alvaro

Publication type:

journal article

Ultrasound in the diagnosis of developmental dysplasia of the hip in newborns. The European approach. A review of methods, accuracy and clinical validity.

Published in:

2007

By:

Rosendahl, Karen;
Toma, Paolo

Publication type:

journal article

Potential applications of three-dimensional ultrasound in the pediatric urinary tract: pictorial demonstration based on preliminary results.

Published in:

2003

By:

Riccabona, M.;
Fritz, G.;
Ring, E.

Publication type:

journal article

A simple method for the analysis by MS/MS of underivatized amino acids on dry blood spots from newborn screening.

Published in:

Amino Acids, 2012, v. 42, n. 5, p. 1889, doi. 10.1007/s00726-011-0910-6

By:

Wang, Chunyan;
Zhang, Wenyan;
Song, Fengrui;
Liu, Zhiqiang;
Liu, Shuying

Publication type:

Article

Diagnosis of Congenital Cytomegalovirus in a 14-Month-Old Patient Presenting with Sensorineural Hearing Loss: Storing Dry Blood Samples.

Published in:

Turkish Archives of Pediatrics, 2025, v. 60, n. 1, p. 106, doi. 10.5152/TurkArchPediatr.2025.2498

By:

Gök, Anıl;
Cırdı, Gökçe;
Güneş, Ayfer Sakarya;
Orgun, Leman Tekin;
Sayan, Murat;
Kara, Bülent

Publication type:

Article

Congenital Cytomegalovirus Infection Screening in Newborns From Saliva Samples by Real-Time Polymerase Chain Reaction Analysis.

Published in:

Turkish Archives of Pediatrics, 2023, v. 58, n. 4, p. 371, doi. 10.5152/TurkArchPediatr.2023.22309

By:

Günlemez, Ayla;
Kolaylı, Fetiye;
Özçelik, Eda Yazıcı;
Duranoğlu, Ali;
Durgut, Merve;
Arısoy, Emin Sami;
Kara, Bülent

Publication type:

Article

Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening.

Published in:

Turkish Archives of Pediatrics, 2023, v. 58, n. 4, p. 382, doi. 10.5152/TurkArchPediatr.2023.23009

By:

Tin, Oğuzhan;
Zübarioğlu, Tanyel;
Cansever, Mehmet Şerif;
Kıykım, Ertuğrul;
Aktuğlu-Zeybek, Çiğdem

Publication type:

Article