Neonatal Screening

"Neonatal Screening" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.

Descriptor ID	D015997
MeSH Number(s)	E01.370.225.910 E01.370.500.580 E05.200.910 E05.318.308.980.438.580.580 N02.421.726.233.443.816 N05.715.360.300.800.438.500.575 N06.850.520.308.980.438.580.580 N06.850.780.500.580
Concept/Terms	Neonatal Screening Neonatal Screening Neonatal Screenings Screening, Neonatal Screenings, Neonatal Infant, Newborn, Screening Newborn Infant Screening Newborn Infant Screenings Screening, Newborn Infant Screenings, Newborn Infant Newborn Screening Newborn Screenings Screening, Newborn Screenings, Newborn

Below are MeSH descriptors whose meaning is more general than "Neonatal Screening".

Analytical, Diagnostic and Therapeutic Techniques and Equipment [E]
Diagnosis [E01]
Diagnostic Techniques and Procedures [E01.370]
Clinical Laboratory Techniques [E01.370.225]
Neonatal Screening [E01.370.225.910]
Mass Screening [E01.370.500]
Neonatal Screening [E01.370.500.580]
Investigative Techniques [E05]
Clinical Laboratory Techniques [E05.200]
Neonatal Screening [E05.200.910]
Epidemiologic Methods [E05.318]
Data Collection [E05.318.308]
Surveys and Questionnaires [E05.318.308.980]
Health Surveys [E05.318.308.980.438]
Mass Screening [E05.318.308.980.438.580]
Neonatal Screening [E05.318.308.980.438.580.580]
Health Care [N]
Health Care Facilities, Manpower, and Services [N02]
Health Services [N02.421]
Preventive Health Services [N02.421.726]
Diagnostic Services [N02.421.726.233]
Mass Screening [N02.421.726.233.443]
Neonatal Screening [N02.421.726.233.443.816]
Health Care Quality, Access, and Evaluation [N05]
Quality of Health Care [N05.715]
Health Care Evaluation Mechanisms [N05.715.360]
Data Collection [N05.715.360.300]
Surveys and Questionnaires [N05.715.360.300.800]
Health Surveys [N05.715.360.300.800.438]
Mass Screening [N05.715.360.300.800.438.500]
Neonatal Screening [N05.715.360.300.800.438.500.575]
Environment and Public Health [N06]
Public Health [N06.850]
Epidemiologic Methods [N06.850.520]
Data Collection [N06.850.520.308]
Surveys and Questionnaires [N06.850.520.308.980]
Health Surveys [N06.850.520.308.980.438]
Mass Screening [N06.850.520.308.980.438.580]
Neonatal Screening [N06.850.520.308.980.438.580.580]
Public Health Practice [N06.850.780]
Mass Screening [N06.850.780.500]
Neonatal Screening [N06.850.780.500.580]

Below are MeSH descriptors whose meaning is more specific than "Neonatal Screening".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Neonatal Screening" by people in this website by year, and whether "Neonatal Screening" was a major or minor topic of these publications.

Bar chart showing 69 publications over 23 distinct years, with a maximum of 10 publications in 2010

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2001	2	0	2
2002	2	1	3
2003	2	0	2
2004	5	0	5
2005	4	0	4
2006	1	1	2
2007	1	1	2
2008	3	0	3
2009	1	0	1
2010	10	0	10
2011	2	1	3
2012	2	2	4
2013	2	0	2
2014	5	0	5
2016	3	1	4
2017	0	1	1
2018	0	2	2
2021	1	1	2
2022	0	4	4
2023	0	3	3
2024	1	0	1
2025	1	2	3
2026	1	0	1

Below are the most recent publications written about "Neonatal Screening" by people in Profiles.

Falk EN, Chrzanowski SM, Coyne F, Sheldon Y, Cherkerzian S, Parad RB. Interpreting Neonatal hyperCKemia Identified Through Duchenne Muscular Dystrophy Newborn Screening: A Predictive Model Based on Maternal, Labor, Delivery and Newborn Factors. Muscle Nerve. 2026 Mar; 73(3):459-470.

View in: PubMed
Hale JE, O'Sullivan BP, Parad RB, Dorkin HL, Kremer TM, Vehse NW, Yonker LM, Sawicki GS, Counihan AM, Gerstel-Thompson J, Kumar B, Comeau AM. Expansion of variant panels in newborn screening algorithms to identify cystic fibrosis: A retrospective analysis of 25 years of genotypes and implications on diagnosis. Genet Med. 2026 Jan; 28(1):101629.

View in: PubMed
Neary CM, Ong MS, Farmer JR. Sociodemographic drivers of care disparity among patients with inborn errors of immunity. Curr Opin Pediatr. 2025 Dec 01; 37(6):613-618.

View in: PubMed
Day-Lewis ME, Berbert L, DeGrazia M, Yee C, Fried AJ, Nguyen AA, Hale JE, Counihan A, Comeau AM, Treffeisen ER, Reed MP, Platt CD, Chou J. Incidence and risk factors for CMV and EBV infection in infants with low T-cell receptor excision circles on newborn screen. Clin Immunol. 2025 Aug; 277:110510.

View in: PubMed
Grady LO, Zoltick ES, Zouk H, He W, Perez E, Clarke L, Gold J, Strong A, Sahai I, Yeo J, Green RC, Karaa A, Gold NB. Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I. Am J Med Genet A. 2025 Apr; 197(4):e63940.

View in: PubMed
Taylor-Miller T, Tucker K, Sugo E, Anazodo A, Mowat D. Clues for Early Diagnosis of MEN2B Syndrome Before Medullary Thyroid Carcinoma. Pediatrics. 2024 Sep 01; 154(3).

View in: PubMed
Ramirez Alcantara J, Grant NR, Sethuram S, Nagy A, Becker C, Sahai I, Stanley T, Halper A, Eichler FS. Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy. J Clin Endocrinol Metab. 2023 10 18; 108(11):e1306-e1315.

View in: PubMed
Ream MA, Lam WKK, Grosse SD, Ojodu J, Jones E, Prosser LA, Rose AM, Comeau AM, Tanksley S, Powell CM, Kemper AR. Evidence and Recommendation for Guanidinoacetate Methyltransferase Deficiency Newborn Screening. Pediatrics. 2023 08 01; 152(2).

View in: PubMed
Levy HL, Sahai I. Is More Effective Newborn Screening for Homocystinuria on the Horizon? Clin Chem. 2023 04 28; 69(5):433-434.

View in: PubMed
Ginsburg DK, Salinas DB, Cosanella TM, Wee CP, Saeed MM, Keens TG, Gold JI. High rates of anxiety detected in mothers of children with inconclusive cystic fibrosis screening results. J Cyst Fibros. 2023 May; 22(3):420-426.

View in: PubMed

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