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The Technologies: Comparisons on Efficiency, Reliability, and Costs

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Prenatal Diagnostic Testing for Genetic Disorders

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Abstract

Noninvasive prenatal testing (NIPT) determines fetal chromosomal abnormalities by analyzing cell-free DNA (cfDNA) in the maternal blood of pregnant women without the risk of fetal loss. The chromosomal abnormalities include the most common aneuploidies (T21, T18, and T13), sex chromosome aneuploidies (SCAs), rare autosomal aneuploidies (RAAs), microdeletions, and microduplications. Different platforms and technologies have been developed to enable the NIPT tests, including shotgun massively parallel sequence (MPS), targeted MPS, digital PCR, as well as the traditional qPCR. In the following chapter, major technologies and available products are introduced and discussed.

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Authors and Affiliations

  1. Atila Biosystems Inc., Mountain View, CA, USA

    Zhijie Yang & Youxiang Wang

  2. Centre for Perinatal and Reproductive Medicine, University of Perugia, Perugia, Italy

    Gian Carlo Di Renzo

  3. Department of Obstetrics and Gynecology, IM Sechenov First State University, Moscow, Russia

    Gian Carlo Di Renzo

  4. PREIS School (The Permanent International and European School of Perinatal, Neonatal and Reproductive Medicine), Florence, Italy

    Gian Carlo Di Renzo

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  1. Zhijie Yang
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  1. Centre for Perinatal & Reproductive Medicine, University of Perugia, Perugia, Umbria, Italy

    Gian Carlo Di Renzo

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    Yang, Z., Wang, Y., Di Renzo, G.C. (2023). The Technologies: Comparisons on Efficiency, Reliability, and Costs. In: Di Renzo, G.C. (eds) Prenatal Diagnostic Testing for Genetic Disorders. Springer, Cham. https://doi.org/10.1007/978-3-031-31758-3_13

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