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
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
收藏
页数:10
相关论文
共 50 条
  • [41] Indications for invasive prenatal testing before and after implementation of non-invasive prenatal screening
    Gill, Lisa
    Prosen, Tracy L.
    AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2017, 216 (01) : S126 - S127
  • [42] Non-Invasive Prenatal Testing In Pregnancy In An Irish Cohort
    Traynor, B.
    McCarthy, F.
    IRISH JOURNAL OF MEDICAL SCIENCE, 2020, 189 (SUPPL 4) : 34 - 34
  • [43] Non-invasive prenatal testing (NIPT) - state of the art
    Lo, Y. M. D.
    HUMAN REPRODUCTION, 2017, 32 : 1 - 2
  • [44] Questioning the costs and benefits of non-invasive prenatal testing
    Stoll, Katie
    Lutgendorf, Monica
    Knutzen, Dana
    Nielsen, Peter E.
    JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE, 2014, 27 (06): : 633 - 634
  • [45] Uptake of non-invasive prenatal testing by Japanese women
    Akaishi, R.
    Yamada, T.
    Kawaguchi, S.
    Kojima, T.
    Koyama, T.
    Umazume, T.
    Morikawa, M.
    Cho, K.
    Minakami, H.
    ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2015, 45 (01) : 113 - 114
  • [46] Clinical utility and cost of non-invasive prenatal testing
    Cuckle, Howard
    Benn, Peter
    Pergament, Eugene
    JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE, 2014, 27 (03): : 320 - 321
  • [47] Non-invasive prenatal paternity testing using a standard forensic genetic massively parallel sequencing assay for amplification of human identification SNPs
    Sofie Lindgren Christiansen
    Britt Jakobsen
    Claus Børsting
    Hanne Udengaard
    Anders Buchard
    Marie-Louise Kampmann
    Marie Louise Grøndahl
    Niels Morling
    International Journal of Legal Medicine, 2019, 133 : 1361 - 1368
  • [48] Advancements of non-invasive prenatal testing: the role of obstetricians
    Eltabbakh, Nada
    Mohasin, Yalnaz
    Jeddy, Rafiea
    FRONTIERS IN MEDICINE, 2024, 11
  • [49] The implementation of non-invasive prenatal testing (NIPT) in the Netherlands
    Bilardo, Caterina M.
    JOURNAL OF PERINATAL MEDICINE, 2021, 49 (08) : 941 - 944
  • [50] Insurance and geographic variations in non-invasive prenatal testing
    Ellison, Jacqueline
    Wang, Catharine
    Yarrington, Christina
    Connors, Philip
    Hanchate, Amresh
    PRENATAL DIAGNOSIS, 2022, 42 (08) : 1004 - 1007