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

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.

Automated summary

In 1997, Cell-Free Fetal DNA (cffDNA) was found in maternal plasma. cffDNA has been studied as a source of non-invasive prenatal testing for fetal pathologies and paternity testing. This study presents a non-invasive prenatal paternity test (NIPAT) using Next Generation Sequencing (NGS) to analyze 861 Single Nucleotide Variants (SNV) from cffDNA. The test has shown high accuracy in real cases according to the log(CPI) values generated.