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NIPAT as Non-Invasive Prenatal Paternity Testing Using a Panel of 861 SNVs.

Riccardo GiannicoLuca ForlaniValentina AndriolettiEttore CotroneoAndrea TermineCarlo FabrizioRaffaella CascellaLuca SalvaderiPasquale LinarelloDebora VarroneLaura GiganteEmiliano Giardina
Published in: Genes (2023)
In 1997, it was discovered that maternal plasma contains Cell-Free Fetal DNA (cffDNA). cffDNA has been investigated as a source of DNA for non-invasive prenatal testing for fetal pathologies, as well as for non-invasive paternity testing. While the advent of Next Generation Sequencing (NGS) led to the routine use of Non-Invasive Prenatal Screening (NIPT or NIPS), few data are available regarding the reliability and reproducibility of Non-Invasive Prenatal Paternity Testing (NIPPT or NIPAT). Here, we present a non-invasive prenatal paternity test (NIPAT) analyzing 861 Single Nucleotide Variants (SNV) from cffDNA through NGS technology. The test, validated on more than 900 meiosis samples, generated log(CPI)(Combined Paternity Index) values for designated fathers ranging from +34 to +85, whereas log(CPI) values calculated for unrelated individuals were below -150. This study suggests that NIPAT can be used with high accuracy in real cases.
Keyphrases
  • cell free
  • pregnant women
  • circulating tumor
  • single molecule
  • electronic health record
  • body mass index
  • big data
  • deep learning
  • artificial intelligence
  • birth weight
  • gestational age