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Electrospray tandem mass spectrometry for newborn screening

Related Terms

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Background

  • General: Genes, made of deoxyribonucleic acid (DNA), are considered the building blocks of life because they provide instructions for all the cells in the body. They are located inside cells and control an organism's development and functions by instructing cells to make new molecules, usually proteins. Proteins are organic (carbon-containing) compounds composed of amino acids. The sequence of the amino acids in a protein is defined by a gene. Proteins are required for the growth and maintenance of the body. Amino acids are organic molecules that serve as the building blocks of proteins.
  • DNA is a long, thread-like (double-helix) molecule made up of large numbers of nucleotides. Nucleotides are the building blocks of DNA and are made of nitrogen bases, sugars, and phosphate. Nitrogen bases are of two types: purines, such as adenine (A) and guanine (G), and pyrimidines, such as cytosine (C) and thymine (T). Long strands of nucleotides form nucleic acids.
  • Newborn screening: Newborn screening is the practice of testing newborns for certain harmful or potentially fatal disorders that may not be otherwise apparent at birth. These simple tests may determine whether newborns have certain conditions that could eventually cause health problems. Even though these conditions are considered rare and most babies are given a clean bill of health, early diagnosis and proper treatment may make the difference between potential, lifelong complications and healthy development. For example, newborn screening is used to detect a form of hearing impairment. Early detection allows for early treatment, which may decrease hearing loss.
  • Newborn screening programs for inherited diseases are well established in many developed countries; hence, dried blood spots on screening cards are collected from newborns for early detection of diseases and improvement of their health. The introduction of tandem mass spectrometry (MS/MS) in the 1990s by Millington and coworkers for population-based newborn screening has helped healthcare providers detect an increased number of metabolic disorders. MS/MS technology may assist in detecting metabolic disorders during the neonatal period (first 28 days of life) that previously were diagnosed only after symptoms had developed. Hence, MS/MS has been used for several years in children suspected of having inborn errors of metabolism (IEM). IEM includes a large group of genetic diseases characterized by illnesses that occur when the body is unable to process fats (lipids), proteins, sugars (carbohydrates), or nucleic acids properly. Most metabolic disorders are caused by genetic mutations (changes in genes) that result in missing or dysfunctional enzymes that are needed for the cell to perform metabolic processes.
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Methods

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Research

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Implications

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Limitations

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Safety

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Future Research

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Author Information

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References

Natural Standard developed the above evidence-based information based on a thorough systematic review of the available scientific articles. For comprehensive information about alternative and complementary therapies on the professional level, go to www.naturalstandard.com. Selected references are listed below.

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The information in this monograph is intended for informational purposes only, and is meant to help users better understand health concerns. Information is based on review of scientific research data, historical practice patterns, and clinical experience. This information should not be interpreted as specific medical advice. Users should consult with a qualified healthcare provider for specific questions regarding therapies, diagnosis and/or health conditions, prior to making therapeutic decisions.