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Newborn Screening for Congenital Disorders in Routine and Research

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Handbook of Children with Special Health Care Needs

Abstract

Newborn screening (NBS) for the congenital disorders phenylketonuria (PKU)and congenital hypothyroidism (CH)using dried blood spot samples (DBSS) started in the 1960s and 1970s. Since then significant technological advances in laboratory testing using tandem mass spectrometry (MSMS) and genotyping technology have made it possible to screen for an expanding number of serious congenital disorders. At the same time, new possibilities of efficient treatment have emerged making it of utmost importance to recognize the disorders as early in life as possible. New exciting research possibilities are now also possible using DBSS from NBS biobanks and recently developed multianalyte techniques. The purpose of this chapter is to present some of this progress in routine and research based on primarily Danish experience, including focus on legal, ethical, and practical aspects.

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Abbreviations

ACMG:

American Council of Medical Genetics

CH:

Congenital Hypothyroidism

CLSI:

Clinical Laboratory Standard Institute

DBSS:

Dried Blood Spot Samples

LIMS:

Laboratory Information Management System

MSMS:

Tandem Mass Spectrometry

NBS:

Newborn Screening

PKU:

Phenylketonuria

QA:

Quality Assurance

T4 :

Thyroxine

TSH:

Thyroid Stimulating Hormone

UK-NSC:

United Kingdom National Screening Committee

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Authors and Affiliations

  1. Section of Neonatal Screening and Hormones, Department of Clinical Biochemistry and Immunology, Statens Serum Institut, Artillerivej 5, 2300, Copenhagen S, Denmark

    Bent Nørgaard Pedersen MD & David Michael Hougaard MD, D.Sci.

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  1. Bent Nørgaard Pedersen MD
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  2. David Michael Hougaard MD, D.Sci.
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Correspondence to Bent Nørgaard Pedersen MD .

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Editors and Affiliations

  1. Chapel Hill, University of North Carolina, 410 Berryhill, Chapel Hill, 27599-7575, North Carolina, USA

    David Hollar

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Pedersen, B., Hougaard, D. (2012). Newborn Screening for Congenital Disorders in Routine and Research. In: Hollar, D. (eds) Handbook of Children with Special Health Care Needs. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-2335-5_13

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  • DOI: https://doi.org/10.1007/978-1-4614-2335-5_13

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