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Related Experiment Video

Updated: Aug 4, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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A theoretical base for non-invasive prenatal paternity testing.

Shengjie Gao1, Bowen Li2, Likai Mao3

  • 1BGI Forensic Technology (Shenzhen) Co., Ltd., Shenzhen 518083, China; The Affiliated Luohu Hospital of Shenzhen University, Shenzhen University, Shenzhen 518000, China.

Forensic Science International
|March 30, 2023
PubMed
Summary

This study introduces a new Prenatal paternity Test Analysis System (PTAS) for non-invasive prenatal paternity testing. The PTAS method accurately identifies biological fathers using cell-free fetal DNA, improving forensic applications.

Keywords:
Cumulative paternity index (CPI)Cumulative probability of exclusion (CPE)Next-generation sequencing (NGS)Non-invasive prenatal paternity testing (NIPPT)Single nucleotide polymorphism (SNP)

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Area of Science:

  • Forensic Science
  • Genetics
  • Molecular Biology

Background:

  • Non-invasive prenatal paternity testing (NIPPT) is increasingly important in forensic applications.
  • Current NIPPT methods, often based on Next-Generation Sequencing (NGS)-based SNP genotyping, face challenges with fetal genotype uncertainty.
  • Existing methods may not perform optimally due to limitations in traditional postnatal paternity tests and statistical models.

Purpose of the Study:

  • To develop and validate a novel methodology, the Prenatal paternity Test Analysis System (PTAS), for highly accurate NIPPT.
  • To enhance the reliability of paternity testing using cell-free fetal DNA (cfDNA) and NGS-based SNP genotyping.
  • To address the limitations of existing NIPPT techniques in forensic contexts.

Main Methods:

  • Utilized Next-Generation Sequencing (NGS)-based SNP genotyping on cell-free DNA from maternal peripheral blood.
  • Implemented a proprietary Prenatal paternity Test Analysis System (PTAS) for data analysis.
  • Employed unique molecular identifier (UMI) tagging to improve detection of low fetal fraction samples.

Main Results:

  • Successfully identified paternity in 63 out of 64 early-pregnancy samples (<7 weeks), with one sample failing quality control.
  • The PTAS methodology successfully determined paternity even in a sample with extremely low fetal fraction (0.51%) using UMI tagging.
  • Achieved accurate paternity identification for all 313 mid-to-late pregnancy samples (>7 weeks).

Conclusions:

  • The proposed PTAS methodology represents a significant advancement in non-invasive prenatal paternity testing theory.
  • This novel approach offers substantial benefits for forensic applications requiring early and accurate paternity determination.
  • The PTAS system demonstrates high efficacy and accuracy, overcoming previous limitations in NIPPT.