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Research ArticleFocus: Newborn Screening

Newborn Screening: An Overview

Eileen Carreiro-Lewandowski
American Society for Clinical Laboratory Science October 2002, 15 (4) 229-238; DOI: https://doi.org/10.29074/ascls.15.4.229
Eileen Carreiro-Lewandowski
is a professor at the University of Massachusetts Dartmouth, N Dartmouth MA
MS(CLS)
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  • For correspondence: ecarreiro@umassd.edu
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  1. Eileen Carreiro-Lewandowski, MS(CLS)⇑
    1. is a professor at the University of Massachusetts Dartmouth, N Dartmouth MA
  1. Address for correspondence: Eileen Carreiro-Lewandowski MS(CLS), Professor, Department of Medical Laboratory Science, University of Massachusetts Dartmouth, 285 Old Westport Rd, N Dartmouth MA 02747-2300. (508) 999-8213, (508) 999-8418 (fax). ecarreiro{at}umassd.edu

At the end of the article, the learner will be able to:

  1. Identify the ethical issues surrounding newborn screening.

  2. Discuss the impact a lack of nationally adopted standards has on newborn screening.

  3. Describe the criteria used for incorporation of a test in a newborn screening program.

  4. Discuss the impact of technological advances on newborn screening.

  5. Explain the principle of tandem-mass spectrometry.

  6. Identify the pre- and post-analytical variables related to newborn screen testing.

  7. Define the deficiency and discuss the physiologic implications associated with the inherited metabolic diseases presented.

  8. Discuss the relative incidence of the 12 inherited disorders described.

  9. Compare voluntary and mandatory screening.

  10. List the factors that historically impeded early diagnosis of inherited metabolic diseases.

  11. List the two disorders screened by all U.S. states.

  12. List the 15 states that offer testing (at least MCAD) for fatty acid oxidation disorders.

Extract

The ethical considerations and the criteria for inclusion of a test to a newborn screening program have remained constant since testing began in the 1960s. Does the test identify a treatable disorder with significant incidence to pose a public health risk and warrant testing all babies in that state or territory? Technological advances in testing, particularly with the improvement of tandem mass spectrometry techniques and the advent of DNA testing for the specific gene mutations, have expanded our understanding of many inherited metabolic diseases. These mostly autosomal recessive disorders went under-diagnosed by the medical community for many years. This was partly due to the notion that the incidence of inherited metabolic diseases was quite rare and that many so-called birth defects, or unexplained infant deaths, were not associated with any known metabolic disorders.

Public health departments, as part of their newborn health programs, offer some newborn screening to all infants born within their jurisdiction. Two tests, those for phenylketonuria (PKU) and congenital hypothyroidism are universally mandated (51/51 juristictions). The next highest frequency tests are for galactosemia and sickle cell disease (50/51), with up to thirty tests available in some states. However, the authority as to which tests are included resides with the local state government, either as a matter of law or as a matter for the public health department. As these matters become more complex, many public health officials and pediatric healthcare practitioners urge the Federal government to become involved and develop national guidelines in an effort to streamline…

ABBREVIATIONS: BIO = biotinidase deficiency; CAH = congenital adrenal hyperplasia; CF = cystic fibrosis; CH = congenital hypothyroidism; FOD = fatty acid oxidation disorders which include MCAD (medium chain acyl-CoA dehydrogenase deficiency); GAL = galactosemia; HCY = homocystinuria; MS/MS = tandem mass spectrometry; MSUD = maple syrup urine disease; OAA = other amino acidemias including tyrosinemia types I and II; OAD = organic acidemias; PKU = phenylalaninemia; SCD = sickle cell disease.

    INDEX TERMS
  • newborn diseases
  • newborn testing

At the end of the article, the learner will be able to:

  1. Identify the ethical issues surrounding newborn screening.

  2. Discuss the impact a lack of nationally adopted standards has on newborn screening.

  3. Describe the criteria used for incorporation of a test in a newborn screening program.

  4. Discuss the impact of technological advances on newborn screening.

  5. Explain the principle of tandem-mass spectrometry.

  6. Identify the pre- and post-analytical variables related to newborn screen testing.

  7. Define the deficiency and discuss the physiologic implications associated with the inherited metabolic diseases presented.

  8. Discuss the relative incidence of the 12 inherited disorders described.

  9. Compare voluntary and mandatory screening.

  10. List the factors that historically impeded early diagnosis of inherited metabolic diseases.

  11. List the two disorders screened by all U.S. states.

  12. List the 15 states that offer testing (at least MCAD) for fatty acid oxidation disorders.

  • © Copyright 2002 American Society for Clinical Laboratory Science Inc. All rights reserved.
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American Society for Clinical Laboratory Science: 15 (4)
American Society for Clinical Laboratory Science
Vol. 15, Issue 4
Fall 2002
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Newborn Screening: An Overview
Eileen Carreiro-Lewandowski
American Society for Clinical Laboratory Science Oct 2002, 15 (4) 229-238; DOI: 10.29074/ascls.15.4.229

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Newborn Screening: An Overview
Eileen Carreiro-Lewandowski
American Society for Clinical Laboratory Science Oct 2002, 15 (4) 229-238; DOI: 10.29074/ascls.15.4.229
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  • newborn diseases
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