Noninvasive Prenatal Paternity Testing by Means of SNP-based Targeted Sequencing

Overview

Journal Prenat Diagn

Publisher Wiley

Specialty Gynecology & Obstetrics

Date 2019 Nov 2

PMID 31674029

Citations 12

Authors

Jacqueline Chor Wing Tam

Yee Man Chan

Shui Ying Tsang

Chung In Yau

Shuk Ying Yeung

Ka Ki Au

Chun Kin Chow

Affiliations

Soon will be listed here.

Abstract

Objective: To develop a method for noninvasive prenatal paternity testing based on targeted sequencing of single nucleotide polymorphisms (SNPs).

Method: SNPs were selected based on population genetics data. Target-SNPs in cell-free DNA extracted from maternal blood (maternal cfDNA) were analyzed by targeted sequencing wherein target enrichment was based on multiplex amplification using QIAseq Targeted DNA Panels with Unique Molecular Identifiers. Fetal SNP genotypes were called using a novel bioinformatics algorithm, and the combined paternity indices (CPIs) and resultant paternity probabilities were calculated.

Results: Fetal SNP genotypes obtained from targeted sequencing of maternal cfDNA were 100% concordant with those from amniotic fluid-derived fetal genomic DNA. From an initial panel of 356 target-SNPs, an average of 148 were included in paternity calculations in 15 family trio cases, generating paternity probabilities of greater than 99.9999%. All paternity results were confirmed by short-tandem-repeat analysis. The high specificity of the methodology was validated by successful paternity discrimination between biological fathers and their siblings and by large separations between the CPIs calculated for the biological fathers and those for 60 unrelated men.

Conclusion: The novel method is highly effective, with substantial improvements over similar approaches in terms of reduced number of target-SNPs, increased accuracy, and reduced costs.

Citing Articles

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Li N, Sun Y, Cheng L, Feng C, Sun Y, Yang S Int J Nanomedicine. 2024; 19:13445-13460.

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Bibliometric analysis of kinship analysis from 1960 to 2023: global trends and development.

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Low-Pass Genome Sequencing-Based Detection of Paternity: Validation in Clinical Cytogenetics.

Li K, Zhao Y, Chau M, Cao Y, Leung T, Kwok Y Genes (Basel). 2023; 14(7).

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Early noninvasive prenatal paternity testing by targeted fetal DNA analysis.

Damour G, Baumer K, Legardeur H, Hall D Sci Rep. 2023; 13(1):12139.

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