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Non-invasive Prenatal Testing: A Unique Approach with Single Nucleotide Polymorphism

  • Review Article
  • Published:
Journal of Fetal Medicine

Abstract

The purpose of this review is to demonstrate the unique properties of a single nucleotide polymorphism (SNP)-based approach in non-invasive prenatal testing (NIPT). The identification of cell free fetal DNA in the plasma of pregnant women led to the development of NIPT. This can be performed with either a quantitative approach (massively parallel shotgun sequencing, chromosome selective sequencing) or a qualitative approach (SNP-based). NIPT tests have been shown to have superior performance as a screen for common fetal chromosome abnormalities compared with maternal serum screening. At low fetal fractions, NIPT sensitivity falls, particularly when quantitative methods are used. A SNP-based approach allows both accurate assessment of fetal fraction, and a robust test performance at lower fetal fractions. The ability of the SNP-based approach to screen for vanishing twins and maternal copy number variants reduces false positives; and the ability to make high confidence calls at lower fetal fraction, minimizes discordance between the NIPT result and the true fetal status.

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Authors and Affiliations

  1. Natera, Inc, San Carlos, CA, USA

    Rupin Dhamankar & Elizabeth Valenti

  2. Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynocology, University of California Davis Health System, Sacramento, CA, USA

    Herman L. Hedriana

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  1. Rupin Dhamankar
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  2. Elizabeth Valenti
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Correspondence to Herman L. Hedriana.

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Rupin Dhamankar and Elizabeth Valenti are Natera Inc employees; Herman Hedriana was a former Natera employee.

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Dhamankar, R., Valenti, E. & Hedriana, H.L. Non-invasive Prenatal Testing: A Unique Approach with Single Nucleotide Polymorphism. J. Fetal Med. 5, 113–119 (2018). https://doi.org/10.1007/s40556-018-0167-1

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  • DOI: https://doi.org/10.1007/s40556-018-0167-1

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