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

被引：0

作者：

Giannico, Riccardo ^{[1
]}

Forlani, Luca ^{[1
]}

Andrioletti, Valentina ^{[1
]}

Cotroneo, Ettore ^{[1
]}

Termine, Andrea ^{[2
]}

Fabrizio, Carlo ^{[2
]}

Cascella, Raffaella ^{[3
,4
]}

Salvaderi, Luca ^{[1
]}

Linarello, Pasquale ^{[1
]}

Varrone, Debora ^{[1
]}

Gigante, Laura ^{[1
]}

Giardina, Emiliano ^{[3
,5
]}

机构：

[1] Eurofins Genoma Grp, I-00138 Rome, Italy

[2] Santa Lucia Fdn IRCCS, Data Sci Unit, I-00179 Rome, Italy

[3] Tor Vergata Univ, Dept Biomed & Prevent, I-00133 Rome, Italy

[4] Catholic Univ Our Lady Good Counsel, Dept Biomed Sci, Tirana 1000, Albania

[5] Santa Lucia Fdn IRCCS, Genom Med Lab UILDM, I-00179 Rome, Italy

来源：

GENES | 2023年 / 14卷 / 02期

关键词：

paternity test; NGS; cffDNA; NIPAT; RAPID CLEARANCE; FETAL DNA; INFERENCE;

D O I：

10.3390/genes14020312

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：10

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