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26.06.2019 | Original Article | Ausgabe 5/2019

International Journal of Legal Medicine 5/2019

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

Zeitschrift:
International Journal of Legal Medicine > Ausgabe 5/2019
Autoren:
Sofie Lindgren Christiansen, Britt Jakobsen, Claus Børsting, Hanne Udengaard, Anders Buchard, Marie-Louise Kampmann, Marie Louise Grøndahl, Niels Morling
Wichtige Hinweise

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The online version of this article (https://​doi.​org/​10.​1007/​s00414-019-02106-0) contains supplementary material, which is available to authorized users.

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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.

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Zusatzmaterial
ESM 1 (DOCX 46 kb)
414_2019_2106_MOESM1_ESM.docx
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