ArticlePrenatal diagnosis2020
Noninvasive prenatal paternity testing by means of SNP-based targeted sequencing.
Article in Prenatal diagnosis, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Bibliometric analysis of kinship analysis from 1960 to 2023: global trends and development.Frontiers in genetics · 2024Pooled it
- Improving the accuracy of fetal growth restriction diagnosis by integrating fetal genetic growth potential: a proof of concept study.BMC pregnancy and childbirth · 2026Article
- Noninvasive Prenatal Paternity Testing: A Review on Genetic Markers.International journal of molecular sciences · 2025Review
- Identification of a Homozygous Variant in theGenes · 2025Article
- Non-Invasive Prenatal Diagnosis of Chromosomal and Monogenic Disease by a Novel Bioinspired Micro-Nanochip for Isolating Fetal Nucleated Red Blood Cells.International journal of nanomedicine · 2024Article
- Early noninvasive prenatal paternity testing by targeted fetal DNA analysis.Scientific reports · 2023Article
- Low-Pass Genome Sequencing-Based Detection of Paternity: Validation in Clinical Cytogenetics.Genes · 2023Article
- Article
- Non-invasive prenatal paternity testing by analysis of Y-chromosome mini-STR haplotype using next-generation sequencing.PloS one · 2022Article
- Improved library preparation protocols for amplicon sequencing-based noninvasive fetal genotyping for RHD-positive D antigen-negative alleles.BMC research notes · 2021Article
- Calculation of Fetal Fraction for Non-Invasive Prenatal Testing.Biotech (Basel (Switzerland)) · 2021Review
- Observational
- Noninvasive prenatal paternity determination using microhaplotypes: a pilot study.BMC medical genomics · 2020Article
- Noninvasive prenatal paternity testing by means of SNP-based targeted sequencing.Prenatal diagnosis · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo develop a method for noninvasive prenatal paternity testing based on targeted sequencing of single nucleotide polymorphisms (SNPs).
methodSNPs 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.
resultsFetal 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.
conclusionThe novel method is highly effective, with substantial improvements over similar approaches in terms of reduced number of target-SNPs, increased accuracy, and reduced costs.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.