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 t...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-01-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/14/2/312 |
| _version_ | 1797620811302961152 |
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| author | Riccardo Giannico Luca Forlani Valentina Andrioletti Ettore Cotroneo Andrea Termine Carlo Fabrizio Raffaella Cascella Luca Salvaderi Pasquale Linarello Debora Varrone Laura Gigante Emiliano Giardina |
| author_facet | Riccardo Giannico Luca Forlani Valentina Andrioletti Ettore Cotroneo Andrea Termine Carlo Fabrizio Raffaella Cascella Luca Salvaderi Pasquale Linarello Debora Varrone Laura Gigante Emiliano Giardina |
| author_sort | Riccardo Giannico |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-11T08:47:55Z |
| format | Article |
| id | doaj.art-6dae1b5bfe9a403787e70d71f3ba9a06 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-11T08:47:55Z |
| publishDate | 2023-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-6dae1b5bfe9a403787e70d71f3ba9a062023-11-16T20:41:13ZengMDPI AGGenes2073-44252023-01-0114231210.3390/genes14020312NIPAT as Non-Invasive Prenatal Paternity Testing Using a Panel of 861 SNVsRiccardo Giannico0Luca Forlani1Valentina Andrioletti2Ettore Cotroneo3Andrea Termine4Carlo Fabrizio5Raffaella Cascella6Luca Salvaderi7Pasquale Linarello8Debora Varrone9Laura Gigante10Emiliano Giardina11Eurofins Genoma Group, 00138 Rome, ItalyEurofins Genoma Group, 00138 Rome, ItalyEurofins Genoma Group, 00138 Rome, ItalyEurofins Genoma Group, 00138 Rome, ItalyData Science Unit, Santa Lucia Foundation IRCCS, 00179 Rome, ItalyData Science Unit, Santa Lucia Foundation IRCCS, 00179 Rome, ItalyDepartment of Biomedicine and Prevention, Tor Vergata University, 00133 Rome, ItalyEurofins Genoma Group, 00138 Rome, ItalyEurofins Genoma Group, 00138 Rome, ItalyEurofins Genoma Group, 00138 Rome, ItalyEurofins Genoma Group, 00138 Rome, ItalyDepartment of Biomedicine and Prevention, Tor Vergata University, 00133 Rome, ItalyIn 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.https://www.mdpi.com/2073-4425/14/2/312paternity testNGScffDNANIPAT |
| spellingShingle | Riccardo Giannico Luca Forlani Valentina Andrioletti Ettore Cotroneo Andrea Termine Carlo Fabrizio Raffaella Cascella Luca Salvaderi Pasquale Linarello Debora Varrone Laura Gigante Emiliano Giardina NIPAT as Non-Invasive Prenatal Paternity Testing Using a Panel of 861 SNVs Genes paternity test NGS cffDNA NIPAT |
| title | NIPAT as Non-Invasive Prenatal Paternity Testing Using a Panel of 861 SNVs |
| title_full | NIPAT as Non-Invasive Prenatal Paternity Testing Using a Panel of 861 SNVs |
| title_fullStr | NIPAT as Non-Invasive Prenatal Paternity Testing Using a Panel of 861 SNVs |
| title_full_unstemmed | NIPAT as Non-Invasive Prenatal Paternity Testing Using a Panel of 861 SNVs |
| title_short | NIPAT as Non-Invasive Prenatal Paternity Testing Using a Panel of 861 SNVs |
| title_sort | nipat as non invasive prenatal paternity testing using a panel of 861 snvs |
| topic | paternity test NGS cffDNA NIPAT |
| url | https://www.mdpi.com/2073-4425/14/2/312 |
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