Non-invasive prenatal paternity testing using a standard forensic genetic massively parallel sequencing assay for amplification of human identification SNPs

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

Non-invasive prenatal paternity testing using a standard forensic genetic massively parallel sequencing assay for amplification of human identification SNPs. / Christiansen, Sofie Lindgren; Jakobsen, Britt; Børsting, Claus; Udengaard, Hanne; Buchard, Anders; Kampmann, Marie-Louise; Grøndahl, Marie Louise; Morling, Niels.

In: International Journal of Legal Medicine, Vol. 133, No. 5, 09.2019, p. 1361–1368.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Christiansen, SL, Jakobsen, B, Børsting, C, Udengaard, H, Buchard, A, Kampmann, M-L, Grøndahl, ML & Morling, N 2019, 'Non-invasive prenatal paternity testing using a standard forensic genetic massively parallel sequencing assay for amplification of human identification SNPs', International Journal of Legal Medicine, vol. 133, no. 5, pp. 1361–1368. https://doi.org/10.1007/s00414-019-02106-0

APA

Christiansen, S. L., Jakobsen, B., Børsting, C., Udengaard, H., Buchard, A., Kampmann, M-L., Grøndahl, M. L., & Morling, N. (2019). Non-invasive prenatal paternity testing using a standard forensic genetic massively parallel sequencing assay for amplification of human identification SNPs. International Journal of Legal Medicine, 133(5), 1361–1368. https://doi.org/10.1007/s00414-019-02106-0

Vancouver

Christiansen SL, Jakobsen B, Børsting C, Udengaard H, Buchard A, Kampmann M-L et al. Non-invasive prenatal paternity testing using a standard forensic genetic massively parallel sequencing assay for amplification of human identification SNPs. International Journal of Legal Medicine. 2019 Sep;133(5):1361–1368. https://doi.org/10.1007/s00414-019-02106-0

Author

Christiansen, Sofie Lindgren ; Jakobsen, Britt ; Børsting, Claus ; Udengaard, Hanne ; Buchard, Anders ; Kampmann, Marie-Louise ; Grøndahl, Marie Louise ; Morling, Niels. / Non-invasive prenatal paternity testing using a standard forensic genetic massively parallel sequencing assay for amplification of human identification SNPs. In: International Journal of Legal Medicine. 2019 ; Vol. 133, No. 5. pp. 1361–1368.

Bibtex

@article{582a1a0b48504249adc00a4298e6975d,
title = "Non-invasive prenatal paternity testing using a standard forensic genetic massively parallel sequencing assay for amplification of human identification SNPs",
abstract = "Prenatal paternity testing often relies on invasive procedures that cause risk to both the mother and the foetus. Non-invasive, prenatal paternity testing by investigating paternally inherited single nucleotide polymorphisms (SNPs) in cell-free foetal DNA (cffDNA) in maternal plasma was performed at consecutive time points during early gestation. Plasma from 15 pregnant women was investigated at consecutive time points from gestational weeks (GWs) 4–20. The Precision ID Identity Panel and an Ion S5 Sequencer was used to analyse the cffDNA. Paternally inherited foetal SNP alleles were detected from GW7. The median foetal fractions were 0%, 3.9%, 5.1%, 5.2%, and 4.7% at GWs 4, 7, 12, 16, and 20, respectively. The corresponding median numbers of detected paternally inherited foetal autosomal SNP alleles were 0, 3, 9, 10, and 12, respectively. The typical (i.e. geometric mean) paternity indices at GW12 and GW20 were 24 (range 0.0035–8389) and 199 (range 5.1–30,137), respectively. The method is very promising. However, the method can be improved by shortening the lengths of the PCR amplicons and increasing the number of SNPs. To our knowledge, this is the first study to successfully identify paternally inherited foetal SNP alleles at consecutive time points in early gestation independently of the foetal gender.",
author = "Christiansen, {Sofie Lindgren} and Britt Jakobsen and Claus B{\o}rsting and Hanne Udengaard and Anders Buchard and Marie-Louise Kampmann and Gr{\o}ndahl, {Marie Louise} and Niels Morling",
year = "2019",
month = sep,
doi = "10.1007/s00414-019-02106-0",
language = "English",
volume = "133",
pages = "1361–1368",
journal = "International Journal of Legal Medicine",
issn = "0937-9827",
publisher = "Springer",
number = "5",

}

RIS

TY - JOUR

T1 - Non-invasive prenatal paternity testing using a standard forensic genetic massively parallel sequencing assay for amplification of human identification SNPs

AU - Christiansen, Sofie Lindgren

AU - Jakobsen, Britt

AU - Børsting, Claus

AU - Udengaard, Hanne

AU - Buchard, Anders

AU - Kampmann, Marie-Louise

AU - Grøndahl, Marie Louise

AU - Morling, Niels

PY - 2019/9

Y1 - 2019/9

N2 - Prenatal paternity testing often relies on invasive procedures that cause risk to both the mother and the foetus. Non-invasive, prenatal paternity testing by investigating paternally inherited single nucleotide polymorphisms (SNPs) in cell-free foetal DNA (cffDNA) in maternal plasma was performed at consecutive time points during early gestation. Plasma from 15 pregnant women was investigated at consecutive time points from gestational weeks (GWs) 4–20. The Precision ID Identity Panel and an Ion S5 Sequencer was used to analyse the cffDNA. Paternally inherited foetal SNP alleles were detected from GW7. The median foetal fractions were 0%, 3.9%, 5.1%, 5.2%, and 4.7% at GWs 4, 7, 12, 16, and 20, respectively. The corresponding median numbers of detected paternally inherited foetal autosomal SNP alleles were 0, 3, 9, 10, and 12, respectively. The typical (i.e. geometric mean) paternity indices at GW12 and GW20 were 24 (range 0.0035–8389) and 199 (range 5.1–30,137), respectively. The method is very promising. However, the method can be improved by shortening the lengths of the PCR amplicons and increasing the number of SNPs. To our knowledge, this is the first study to successfully identify paternally inherited foetal SNP alleles at consecutive time points in early gestation independently of the foetal gender.

AB - Prenatal paternity testing often relies on invasive procedures that cause risk to both the mother and the foetus. Non-invasive, prenatal paternity testing by investigating paternally inherited single nucleotide polymorphisms (SNPs) in cell-free foetal DNA (cffDNA) in maternal plasma was performed at consecutive time points during early gestation. Plasma from 15 pregnant women was investigated at consecutive time points from gestational weeks (GWs) 4–20. The Precision ID Identity Panel and an Ion S5 Sequencer was used to analyse the cffDNA. Paternally inherited foetal SNP alleles were detected from GW7. The median foetal fractions were 0%, 3.9%, 5.1%, 5.2%, and 4.7% at GWs 4, 7, 12, 16, and 20, respectively. The corresponding median numbers of detected paternally inherited foetal autosomal SNP alleles were 0, 3, 9, 10, and 12, respectively. The typical (i.e. geometric mean) paternity indices at GW12 and GW20 were 24 (range 0.0035–8389) and 199 (range 5.1–30,137), respectively. The method is very promising. However, the method can be improved by shortening the lengths of the PCR amplicons and increasing the number of SNPs. To our knowledge, this is the first study to successfully identify paternally inherited foetal SNP alleles at consecutive time points in early gestation independently of the foetal gender.

U2 - 10.1007/s00414-019-02106-0

DO - 10.1007/s00414-019-02106-0

M3 - Journal article

C2 - 31243529

VL - 133

SP - 1361

EP - 1368

JO - International Journal of Legal Medicine

JF - International Journal of Legal Medicine

SN - 0937-9827

IS - 5

ER -

ID: 223450897