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

  • Rupin Dhamankar
  • Elizabeth Valenti
  • Herman L. Hedriana
Review Article
  • 15 Downloads

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.

Keywords

cffDNA NIPT SNP-based NIPT Fetal fraction NIPS Prenatal diagnosis 

Notes

Compliance with Ethical Standards

Disclosures

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

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Copyright information

© Society of Fetal Medicine 2018

Authors and Affiliations

  • Rupin Dhamankar
    • 1
  • Elizabeth Valenti
    • 1
  • Herman L. Hedriana
    • 2
  1. 1.Natera, IncSan CarlosUSA
  2. 2.Division of Maternal-Fetal Medicine, Department of Obstetrics and GynocologyUniversity of California Davis Health SystemSacramentoUSA

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