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Noninvasive Prenatal Testing (NIPT)

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Down Syndrome Screening

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Abstract

This chapter provides an overview of noninvasive prenatal testing (NIPT) as a screening method for Down syndrome and other genetic abnormalities. Serum screening and invasive testing have limitations in terms of accuracy and risk of fetal loss, respectively. NIPT utilizes fetal cell-free DNA (cfDNA) obtained from maternal blood samples to analyze the fetal genetic material.

This chapter discusses the origin of cell-free DNA and the underlying principles of NIPT. It then provides practical guidelines for counseling, sample collection, and interpretation of normal and abnormal results. Finally, it explains the advantages and limitations of NIPT compared to traditional screening approaches, as well as the implications for clinical practice.

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Authors and Affiliations

  1. Dr. Abhijit’s Fetal Medicine & Fertility Centre, Ponda, Goa, India

    Abhijit Kamat

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  1. Abhijit Kamat
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© 2023 The Author(s), under exclusive license to Springer Nature Singapore Pte Ltd.

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Kamat, A. (2023). Noninvasive Prenatal Testing (NIPT). In: Down Syndrome Screening. Springer, Singapore. https://doi.org/10.1007/978-981-99-7758-1_5

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  • DOI: https://doi.org/10.1007/978-981-99-7758-1_5

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  • Publisher Name: Springer, Singapore

  • Print ISBN: 978-981-99-7757-4

  • Online ISBN: 978-981-99-7758-1

  • eBook Packages: MedicineMedicine (R0)

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