Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Current Trends in Nursing II01:30

Current Trends in Nursing II

1.3K
Trends in nursing are multifactorial and associated with changes in society, within the nursing profession, and in other professions. Notably, telehealth and remote nursing contribute to successful healthcare delivery for numerous patients and help reduce stress for nurses due to nursing shortages. Nurses can reach patients, monitor their conditions, and interact with them using computers, audio, visual accessories, and telephones—for example, remote patient monitoring systems. Likewise,...
1.3K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Letter to the Editor in Response to Gondrand Et al. "Real-Life Application of a Point-of-Care Biosensor for Phenylalanine in Patients With Phenylketonuria".

Journal of inherited metabolic disease·2026
Same author

Arginine in older patients with persistent atrial fibrillation: A link to endothelial dysfunction?

European journal of internal medicine·2026
Same authorSame journal

Transitioning from Laboratory-Developed Tests to a Single Commercial Reagent Kit in a National Newborn Screening Program: Impact on Analytical Performance and Harmonization.

International journal of neonatal screening·2026
Same authorSame journal

Ethical and Clinical Boundaries in Genomics & Newborn Screening: A Brief Report from IPIC2025.

International journal of neonatal screening·2026
Same authorSame journal

Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry.

International journal of neonatal screening·2026
Same author

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders.

Journal of inherited metabolic disease·2026

Related Experiment Video

Updated: Aug 5, 2025

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
19:15

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Published on: August 25, 2014

86.2K

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

Giancarlo la Marca1,2, Rachel S Carling3,4, Stuart J Moat5,6

  • 1Newborn Screening, Clinical Chemistry and Pharmacology Lab, IRCCS Meyer Children's University Hospital, 50139 Florence, Italy.

International Journal of Neonatal Screening
|March 28, 2023
PubMed
Summary

Newborn screening (NBS) has evolved significantly since 1963, expanding to detect over 60 disorders using advanced technologies. Future NBS will integrate genomics and AI for improved accuracy and safety.

Keywords:
2nd-tier testingNGS in NBSSCID screeningbiochemical analysiscystic fibrosis screeningmetabolomicsneonatal screeningnext-generation sequencingproteomicsquality control

More Related Videos

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

13.2K
State of the Art Cranial Ultrasound Imaging in Neonates
10:02

State of the Art Cranial Ultrasound Imaging in Neonates

Published on: February 2, 2015

24.5K

Related Experiment Videos

Last Updated: Aug 5, 2025

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
19:15

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Published on: August 25, 2014

86.2K
One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

13.2K
State of the Art Cranial Ultrasound Imaging in Neonates
10:02

State of the Art Cranial Ultrasound Imaging in Neonates

Published on: February 2, 2015

24.5K

Area of Science:

  • Biochemistry
  • Genetics
  • Public Health

Background:

  • Newborn screening (NBS) began in 1963 with phenylketonuria detection.
  • NBS has expanded to include over 60 disorders due to technological advancements.
  • Current NBS utilizes methods like mass spectrometry, PCR, and DNA sequencing.

Purpose of the Study:

  • To review current methodological advances in NBS.
  • To explore the potential of proteomic, metabolomic, and genomic techniques in NBS.
  • To discuss the integration of AI and statistical procedures in NBS.

Main Methods:

  • Review of current NBS technologies including immunological methods, tandem mass spectrometry, PCR, DNA sequencing, UPLC, iso-electric focusing, and digital microfluidics.
  • Analysis of 'second-tier' testing for improved specificity and sensitivity.
  • Discussion of proteomic, metabolomic, statistical, and genomic approaches.

Main Results:

  • Technological progress has enabled the detection of over 60 disorders through NBS.
  • 'Second-tier' methods enhance the accuracy of NBS testing.
  • Proteomic, metabolomic, and advanced statistical methods show promise for reducing false positives and predicting pathogenicity.

Conclusions:

  • NBS has evolved into a sophisticated public health program.
  • Emerging technologies like genomics and AI are poised to further enhance NBS.
  • Balancing innovation with safety is crucial for the future of NBS.