Eurofins Genoma Group, 00138 Rome, Italy.
Data Science Unit, Santa Lucia Foundation IRCCS, 00179 Rome, Italy.
Genes (Basel). 2023 Jan 25;14(2):312. doi: 10.3390/genes14020312.
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.
1997 年，人们发现母体血浆中含有游离胎儿 DNA（cffDNA）。cffDNA 已被研究作为非侵入性产前检测胎儿病理的 DNA 来源，以及非侵入性亲子鉴定。虽然新一代测序（NGS）的出现导致了非侵入性产前筛查（NIPT 或 NIPS）的常规使用，但关于非侵入性产前亲子鉴定（NIPPT 或 NIPAT）的可靠性和可重复性的数据很少。在这里，我们提出了一种非侵入性产前亲子鉴定（NIPAT），通过 NGS 技术分析来自 cffDNA 的 861 个单核苷酸变异（SNV）。该测试在 900 多个减数分裂样本上进行了验证，为指定父亲生成的 log(CPI)(联合父权指数)值范围从+34 到+85，而计算得出的无关个体的 log(CPI)值低于-150。这项研究表明，NIPAT 可以在实际案例中高精度地使用。
