Search Results - "Neonatal Screening"

Critical Juncture for Newborn Screening in the United States.

Authors: Tinkle MB

Source: Journal of obstetric, gynecologic, and neonatal nursing : JOGNN [J Obstet Gynecol Neonatal Nurs] 2025 Nov; Vol. 54 (6), pp. 588-594. Date of Electronic Publication: 2025 Sep 05.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 8503123 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-6909 (Electronic) Linking ISSN: 00900311 NLM ISO Abbreviation: J Obstet Gynecol Neonatal Nurs Subsets: MEDLINE

MeSH Terms: Neonatal Screening*/organization & administration , Neonatal Screening*/standards , Neonatal Screening*/methods , Health Policy*, Humans ; Infant, Newborn ; United States ; United States Dept. of Health and Human Services/organization & administration ; Advisory Committees/organization & administration

Newborn Screening: Current State, Challenges, Limitations, and Future Directions.

Authors: Avades MJ Kokhanov A

Source: NeoReviews [Neoreviews] 2025 Dec 01; Vol. 26 (12), pp. e809-e819.

Publication Type: Journal Article; Review

Journal Info: Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 101085360 Publication Model: Print Cited Medium: Internet ISSN: 1526-9906 (Electronic) Linking ISSN: 15269906 NLM ISO Abbreviation: Neoreviews Subsets: MEDLINE

MeSH Terms: Neonatal Screening*/trends , Neonatal Screening*/methods , Neonatal Screening*/ethics , Neonatal Screening*/standards, Humans ; Infant, Newborn ; United States

Newborn Hearing Screening: 1-3-6 Guidelines and How Well We Adhere to Them.

Authors: Kim S Levy AL Gao Q et al.

Source: Clinical pediatrics [Clin Pediatr (Phila)] 2025 Dec; Vol. 64 (12), pp. 1656-1662. Date of Electronic Publication: 2025 Jul 19.

Publication Type: Journal Article

Journal Info: Publisher: Sage Publications Country of Publication: United States NLM ID: 0372606 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1938-2707 (Electronic) Linking ISSN: 00099228 NLM ISO Abbreviation: Clin Pediatr (Phila) Subsets: MEDLINE

MeSH Terms: Neonatal Screening*/methods , Neonatal Screening*/standards , Hearing Tests*/statistics & numerical data , Hearing Tests*/methods , Guideline Adherence*/statistics & numerical data, Humans ; Infant, Newborn ; Retrospective Studies ; Female ; Male ; Evoked Potentials, Auditory, Brain Stem ; Practice Guidelines as Topic

Cost-utility analysis of newborn screening for spinal muscular atrophy in Japan.

Authors: Hata A Uda A Tanaka S et al.

Source: Journal of medical economics [J Med Econ] 2025 Dec; Vol. 28 (1), pp. 44-53. Date of Electronic Publication: 2024 Dec 18.

Publication Type: Journal Article

Journal Info: Publisher: Taylor & Francis Country of Publication: England NLM ID: 9892255 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1941-837X (Electronic) Linking ISSN: 13696998 NLM ISO Abbreviation: J Med Econ Subsets: MEDLINE

MeSH Terms: Neonatal Screening*/economics , Neonatal Screening*/methods , Cost-Benefit Analysis* , Quality-Adjusted Life Years* , Muscular Atrophy, Spinal*/diagnosis , Muscular Atrophy, Spinal*/economics , Markov Chains*, Humans ; Infant, Newborn ; Japan ; Decision Trees ; Female ; Male ; Models, Econometric

A case of early diagnosis of congenital multisystem langerhans cell histiocytosis with thymic involvement triggered by newborn screening.

Authors: Uejima Y Iijima M Oshima K et al.

Source: Immunological medicine [Immunol Med] 2025 Dec; Vol. 48 (4), pp. 407-410. Date of Electronic Publication: 2025 Jun 13.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Informa UK Limited Country of Publication: England NLM ID: 101736847 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2578-5826 (Electronic) Linking ISSN: 25785826 NLM ISO Abbreviation: Immunol Med Subsets: MEDLINE

MeSH Terms: Histiocytosis, Langerhans-Cell*/diagnosis , Histiocytosis, Langerhans-Cell*/congenital , Histiocytosis, Langerhans-Cell*/drug therapy , Histiocytosis, Langerhans-Cell*/genetics , Thymus Gland*/pathology , Neonatal Screening*, Humans ; Infant, Newborn ; Early Diagnosis ; Male ; Receptors, Antigen, T-Cell/genetics ; Severe Combined Immunodeficiency/diagnosis ; Female

Comparative study of the efficacy between new and routine newborn hearing screening protocols in public hospital, Thailand.

Authors: Parangrit K Sillabutra J Isaradisaikul SK et al.

Source: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians [J Matern Fetal Neonatal Med] 2025 Dec; Vol. 38 (1), pp. 2531150. Date of Electronic Publication: 2025 Jul 23.

Publication Type: Journal Article; Comparative Study

Journal Info: Publisher: Informa Healthcare Country of Publication: England NLM ID: 101136916 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4954 (Electronic) Linking ISSN: 14764954 NLM ISO Abbreviation: J Matern Fetal Neonatal Med Subsets: MEDLINE

MeSH Terms: Neonatal Screening*/methods , Neonatal Screening*/standards , Hearing Tests*/statistics & numerical data , Hearing Tests*/methods , Hearing Tests*/standards, Humans ; Infant, Newborn ; Thailand/epidemiology ; Prospective Studies ; Female ; Hospitals, Public/statistics & numerical data ; Male

Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial.

Authors: Reimers R Bailey M Brown C et al.

Corporate Authors: Reimers R Bailey M Brown C et al.

Source: BMJ open [BMJ Open] 2025 Nov 13; Vol. 15 (11), pp. e098609. Date of Electronic Publication: 2025 Nov 13.

Publication Type: Adaptive Clinical Trial; Journal Article

Journal Info: Publisher: BMJ Publishing Group Ltd Country of Publication: England NLM ID: 101552874 Publication Model: Electronic Cited Medium: Internet ISSN: 2044-6055 (Electronic) Linking ISSN: 20446055 NLM ISO Abbreviation: BMJ Open Subsets: MEDLINE

MeSH Terms: Genetic Diseases, Inborn*/diagnosis , Genetic Diseases, Inborn*/genetics , Genetic Testing*/methods , Genetic Testing*/economics , Neonatal Screening*/methods , Neonatal Screening*/economics , Whole Genome Sequencing*/economics , Whole Genome Sequencing*/methods, Female ; Humans ; Infant, Newborn ; Male ; Cost-Benefit Analysis ; Pilot Projects

Targeted congenital cytomegalovirus screening as part of the newborn hearing screening programme in Northeast England.

Authors: Hagan AJ Williams EJ Lindsey P et al.

Source: European journal of pediatrics [Eur J Pediatr] 2025 Nov 11; Vol. 184 (12), pp. 747. Date of Electronic Publication: 2025 Nov 11.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

MeSH Terms: Neonatal Screening*/methods , Cytomegalovirus Infections*/diagnosis , Cytomegalovirus Infections*/congenital , Cytomegalovirus Infections*/complications , Hearing Loss, Sensorineural*/diagnosis , Hearing Loss, Sensorineural*/virology, Humans ; Infant, Newborn ; Retrospective Studies ; England ; Hearing Tests ; Female ; Male ; Cytomegalovirus

A Review of Newborn Screening Programs for Cystic Fibrosis: Are Current Protocols Appropriate for Canada's Diverse Population?

Authors: Cheng SY Sahin B Abdulrahem N et al.

Source: Pediatric pulmonology [Pediatr Pulmonol] 2025 Nov; Vol. 60 (11), pp. e71386.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8510590 Publication Model: Print Cited Medium: Internet ISSN: 1099-0496 (Electronic) Linking ISSN: 10990496 NLM ISO Abbreviation: Pediatr Pulmonol Subsets: MEDLINE

MeSH Terms: Cystic Fibrosis*/diagnosis , Cystic Fibrosis*/genetics , Neonatal Screening*/methods , Genetic Testing*/methods, Humans ; Canada/epidemiology ; Infant, Newborn ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Registries ; Trypsinogen/blood

Quality controlled neonatal hearing screening in children 0-3 months at post natal wards in Uganda: A multi-center study.

Authors: Ndoleriire C Böttcher P Hinterholzer M et al.

Source: International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2025 Nov; Vol. 198, pp. 112579. Date of Electronic Publication: 2025 Sep 28.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 8003603 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-8464 (Electronic) Linking ISSN: 01655876 NLM ISO Abbreviation: Int J Pediatr Otorhinolaryngol Subsets: MEDLINE

MeSH Terms: Neonatal Screening*/standards , Neonatal Screening*/methods , Hearing Loss*/diagnosis , Hearing Loss*/congenital , Hearing Loss*/epidemiology , Hearing Tests*/methods , Hearing Tests*/standards, Humans ; Uganda ; Infant, Newborn ; Cross-Sectional Studies ; Female ; Male ; Infant ; Feasibility Studies ; Evoked Potentials, Auditory, Brain Stem ; Quality Control

A five-year retrospective analysis of a national external quality assessment program for urinary organic acid analysis in newborn screening for inherited metabolic disorders in China.

Authors: Du Y Wang W Yang Y et al.

Source: Annals of clinical biochemistry [Ann Clin Biochem] 2025 Nov; Vol. 62 (6), pp. 447-455. Date of Electronic Publication: 2025 Mar 21.

Publication Type: Journal Article

Journal Info: Publisher: Sage Country of Publication: England NLM ID: 0324055 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1758-1001 (Electronic) Linking ISSN: 00045632 NLM ISO Abbreviation: Ann Clin Biochem Subsets: MEDLINE

MeSH Terms: Neonatal Screening*/standards , Neonatal Screening*/methods , Metabolism, Inborn Errors*/urine , Metabolism, Inborn Errors*/diagnosis , Quality Assurance, Health Care* , Metabolic Diseases*/urine , Metabolic Diseases*/diagnosis, Humans ; Retrospective Studies ; Infant, Newborn ; China ; Gas Chromatography-Mass Spectrometry ; Longitudinal Studies ; Urinalysis/standards ; Urinalysis/methods

Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta-Analysis.

Authors: Reischl-Hajiabadi AT Garbade SF Gleich F et al.

Source: Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 Nov; Vol. 48 (6), pp. e70090.

Publication Type: Journal Article; Meta-Analysis; Systematic Review

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

MeSH Terms: Neonatal Screening*/methods , Amino Acid Metabolism, Inborn Errors*/mortality , Amino Acid Metabolism, Inborn Errors*/diagnosis , Isovaleryl-CoA Dehydrogenase*/deficiency, Humans ; Infant, Newborn ; Developmental Disabilities/etiology ; Early Diagnosis

SCR Disease Name: Acidemia, isovaleric

DNA sequencing in newborn screening.

Authors: Tinkle MB; University of New Mexico College of Nursing, Albuquerque, New Mexico.

Source: Journal of the American Association of Nurse Practitioners [J Am Assoc Nurse Pract] 2025 Nov 01; Vol. 37 (11), pp. 597-602. Date of Electronic Publication: 2025 Nov 01.

Publication Type: Journal Article

Journal Info: Publisher: Wolters Kluwer Country of Publication: United States NLM ID: 101600770 Publication Model: Electronic Cited Medium: Internet ISSN: 2327-6924 (Electronic) Linking ISSN: 23276886 NLM ISO Abbreviation: J Am Assoc Nurse Pract Subsets: MEDLINE

MeSH Terms: Neonatal Screening*/methods , Neonatal Screening*/trends , Sequence Analysis, DNA*/methods , Sequence Analysis, DNA*/trends, Humans ; Infant, Newborn ; Genetic Testing/methods

Rethinking congenital cytomegalovirus: A narrative review of the clinical, public health, and ethical challenges of a preventable cause of childhood hearing loss.

Authors: Simons MP Mankekar G

Source: American journal of otolaryngology [Am J Otolaryngol] 2025 Nov-Dec; Vol. 46 (6), pp. 104682. Date of Electronic Publication: 2025 May 20.

Publication Type: Journal Article; Review

Journal Info: Publisher: Saunders Country of Publication: United States NLM ID: 8000029 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-818X (Electronic) Linking ISSN: 01960709 NLM ISO Abbreviation: Am J Otolaryngol Subsets: MEDLINE

MeSH Terms: Cytomegalovirus Infections*/congenital , Cytomegalovirus Infections*/diagnosis , Cytomegalovirus Infections*/complications , Neonatal Screening*/ethics , Neonatal Screening*/methods , Public Health*/ethics , Hearing Loss, Sensorineural*/virology , Hearing Loss, Sensorineural*/prevention & control , Hearing Loss, Sensorineural*/diagnosis , Hearing Loss, Sensorineural*/etiology, Humans ; Infant, Newborn ; United States/epidemiology ; Infant ; Cytomegalovirus ; Child

PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France.

Authors: Level C Thauvin-Robinet C Binquet C et al.

Source: BMJ open [BMJ Open] 2025 Oct 23; Vol. 15 (10), pp. e105752. Date of Electronic Publication: 2025 Oct 23.

Publication Type: Clinical Trial Protocol; Journal Article

Journal Info: Publisher: BMJ Publishing Group Ltd Country of Publication: England NLM ID: 101552874 Publication Model: Electronic Cited Medium: Internet ISSN: 2044-6055 (Electronic) Linking ISSN: 20446055 NLM ISO Abbreviation: BMJ Open Subsets: MEDLINE

MeSH Terms: Genetic Testing*/methods , High-Throughput Nucleotide Sequencing* , Neonatal Screening*/methods , Neonatal Screening*/psychology, Female ; Humans ; Infant, Newborn ; Feasibility Studies ; France ; Parents/psychology ; Pilot Projects ; Pregnancy ; Observational Studies as Topic ; Multicenter Studies as Topic

Improving completion of the red reflex examination at neonatal intensive care unit discharge: a practice improvement initiative and multisite planned experiment.

Authors: Shafer G Bhakta K Gandhi B et al.

Source: BMJ open quality [BMJ Open Qual] 2025 Oct 20; Vol. 14 (4). Date of Electronic Publication: 2025 Oct 20.

Publication Type: Journal Article

Journal Info: Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 101710381 Publication Model: Electronic Cited Medium: Internet ISSN: 2399-6641 (Electronic) Linking ISSN: 23996641 NLM ISO Abbreviation: BMJ Open Qual Subsets: MEDLINE

MeSH Terms: Physical Examination*/methods , Physical Examination*/standards , Physical Examination*/statistics & numerical data , Neonatal Screening*/methods , Neonatal Screening*/standards, Humans ; Intensive Care Units, Neonatal/organization & administration ; Intensive Care Units, Neonatal/statistics & numerical data ; Quality Improvement ; Infant, Newborn ; Patient Discharge/statistics & numerical data ; Patient Discharge/standards

Medium-chain Acyl-CoA Dehydrogenase Deficiency Identified by MS/MS Newborn Screening Challenges.

Authors: Głąb-Jabłońska E Taybert J Wiśniewska A et al.

Source: Journal of mother and child [J Mother Child] 2025 Dec 04; Vol. 29 (1), pp. 227-233. Date of Electronic Publication: 2025 Dec 04 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Sciendo Country of Publication: Poland NLM ID: 101771247 Publication Model: eCollection Cited Medium: Internet ISSN: 2719-535X (Electronic) Linking ISSN: 1428345X NLM ISO Abbreviation: J Mother Child Subsets: MEDLINE

MeSH Terms: Neonatal Screening*/methods , Lipid Metabolism, Inborn Errors*/diagnosis , Lipid Metabolism, Inborn Errors*/blood , Tandem Mass Spectrometry*/methods , Acyl-CoA Dehydrogenase*/deficiency , Acyl-CoA Dehydrogenase*/blood, Humans ; Infant, Newborn ; Female ; Male ; Carnitine/analogs & derivatives ; Carnitine/blood ; Dried Blood Spot Testing

SCR Disease Name: Medium chain acyl CoA dehydrogenase deficiency

[Transcutaneous bilirubin curves in healthy neonates based on multicenter remote monitoring data].

Authors: Ze B Dong XY Wang J et al.

Source: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2025 Dec 02; Vol. 63 (12), pp. 1318-1324.

Publication Type: Journal Article; Multicenter Study; English Abstract

Journal Info: Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium: Print ISSN: 0578-1310 (Print) Linking ISSN: 05781310 NLM ISO Abbreviation: Zhonghua Er Ke Za Zhi Subsets: MEDLINE

MeSH Terms: Bilirubin*/blood , Neonatal Screening*/methods , Jaundice, Neonatal*/diagnosis , Jaundice, Neonatal*/blood, Humans ; Infant, Newborn ; Female ; Male ; Retrospective Studies ; Gestational Age ; Reference Values ; Birth Weight ; Monitoring, Physiologic/methods

Experiences of parents who receive a false-positive CK-MM screening for their newborn.

Authors: Tzeng JP Corbo AM Cope HL et al.

Source: Journal of genetic counseling [J Genet Couns] 2025 Dec; Vol. 34 (6), pp. e70141.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE

MeSH Terms: Neonatal Screening* , Parents*/psychology , Creatine Kinase*/blood , Muscular Dystrophy, Duchenne*/diagnosis, Humans ; Infant, Newborn ; False Positive Reactions ; Male ; Female ; Adult

Newborn hearing screening in gestational diabetes mellitus: A comparative study of GDMA1 and GDMA2.

Authors: Kirlangic MM Kirlangic M Ozcelik Gulcan C et al.

Source: International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2025 Dec; Vol. 199, pp. 112641. Date of Electronic Publication: 2025 Nov 07.

Publication Type: Journal Article; Comparative Study

Journal Info: Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 8003603 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-8464 (Electronic) Linking ISSN: 01655876 NLM ISO Abbreviation: Int J Pediatr Otorhinolaryngol Subsets: MEDLINE

MeSH Terms: Diabetes, Gestational*/drug therapy , Diabetes, Gestational*/diagnosis , Neonatal Screening*/methods , Hearing Loss*/diagnosis , Hearing Loss*/etiology , Hearing Loss*/epidemiology, Humans ; Female ; Pregnancy ; Infant, Newborn ; Retrospective Studies ; Adult ; Evoked Potentials, Auditory, Brain Stem ; Hearing Tests/methods ; Male