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Related Concept Videos

Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Development of the Oral Microbiota01:28

Development of the Oral Microbiota

The establishment of the oral microbiome begins before birth, challenging the long-held belief that the fetal oral cavity is sterile. The presence of oral microbes such as Streptococcus and Fusobacterium in amniotic fluid suggests that microbial exposure may occur in utero, potentially through translocation from the maternal oral or gastrointestinal tract. This early colonization primes the neonatal immune system and sets the stage for subsequent microbial succession. Maternal health,...
Preventive Healthcare Services01:30

Preventive Healthcare Services

Preventive healthcare services keep people healthy via frequent check-ups, screening, and counseling. They primarily aid in disease prevention rather than treating an acute or chronic illness. Preventive treatment also keeps individuals productive and energetic, allowing them to work well into their retirement years. Examples of preventive care services include:

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Untargeted LC-HRMS of Dried Blood Spots Reveals Metabolic Alterations and Candidate Biomarkers in Glutaric Aciduria Type-1.

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Related Experiment Video

Updated: May 28, 2026

COVID-19 Seroprevalence Test for IgG Antibody Levels Among Healthy Donors Across Different Pandemic Phases in Jeddah
04:43

COVID-19 Seroprevalence Test for IgG Antibody Levels Among Healthy Donors Across Different Pandemic Phases in Jeddah

Published on: June 24, 2025

Newborn Screening in Saudi Arabia: Brief History, Current Practice, and Future Direction.

Ahmed H Mujamammi1

  • 1Clinical Biochemistry Unit, Department of Pathology, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia.

International Journal of Neonatal Screening
|May 27, 2026
PubMed
Summary

Saudi Arabia

Keywords:
dried blood spotethical challengesnational newborn screening programquality assurancetandem mass spectrometry

Related Experiment Videos

Last Updated: May 28, 2026

COVID-19 Seroprevalence Test for IgG Antibody Levels Among Healthy Donors Across Different Pandemic Phases in Jeddah
04:43

COVID-19 Seroprevalence Test for IgG Antibody Levels Among Healthy Donors Across Different Pandemic Phases in Jeddah

Published on: June 24, 2025

Area of Science:

  • Biochemistry
  • Public Health
  • Genomics

Background:

  • The Saudi Arabia National Newborn Screening (NBS) program is crucial for early detection of neonatal conditions.
  • Biochemical NBS using dried blood spot testing is the primary method for metabolite analysis.

Purpose of the Study:

  • To critically review laboratory diagnostic practices in Saudi Arabia's NBS program.
  • To evaluate methodologies, challenges, and quality assurance in biochemical NBS.
  • To explore advancements like genomics and high-resolution metabolomics for future NBS.

Main Methods:

  • Review of current laboratory diagnostic practices for metabolite analysis in NBS.
  • Focus on dried blood spot testing methodologies and quality assurance.
  • Evaluation of tandem mass spectrometry, sample integrity, and cutoff value establishment.

Main Results:

  • Tandem mass spectrometry plays a critical role in metabolite analysis.
  • Challenges include false results, ethical, and logistical issues.
  • Advancements in genomics and metabolomics offer transformative potential.

Conclusions:

  • The review highlights the importance of robust diagnostic practices and quality assurance in NBS.
  • Addressing challenges and integrating new technologies are key for program improvement.
  • Genomic sequencing and high-resolution metabolomics promise enhanced early diagnosis and intervention.