Abstract
Cell-free fetal DNA (cffDNA) from maternal plasma has made it possible to develop noninvasive prenatal paternity testing (NIPPT). However, most studies have focused on customized single nucleotide polymorphism (SNP) typing systems and few have used conventional short tandem repeat (STR) markers. Based on massively parallel sequencing (MPS), this study used a widely-accepted forensic multiplex assay system to evaluate the effect of noninvasive prenatal paternity testing with a combination of well-established SNP and STR markers. Using a ForenSeq DNA Signature Prep Kit, NIPPT was performed in 17 real parentage cases with monovular unborn fetuses at 7 to 24 gestational weeks. Different analytical strategies for the identification of paternally inherited allele (PIA) were developed to deal with SNPs and STRs. Combined paternity index (CPI) for 17 real trios as well as 272 unrelated trios was calculated. With the combination of SNPs and A-STRs, 82.35% (14/17), 88.24% (15/17), 94.12% (16/17), and 94.12% (16/17) of real trios could be accurately determined when the likelihood ratio (LR) threshold for paternity inclusion was set to 10,000, 1000, 100, and 10, respectively. This reveals that simultaneous surveys of SNP and STR markers included in the ForenSeq DNA Signature Prep Kit offer a promising method for NIPPT using MPS technology.
Highlights
Prenatal paternity testing is of great importance in certain situations, such as in the investigation of pregnancy due to rape or incest
68 samples from families were sequenced with three sequencing runs
Therein, antenatal paternity testing is of special use when investigating crimes related to rape or incest
Summary
Prenatal paternity testing is of great importance in certain situations, such as in the investigation of pregnancy due to rape or incest. One possible method is to perform paternity testing through amniocentesis and chorionic villus sampling at the gestational age of week ten and beyond [1,2,3]. The use of utensils through the cervix or abdomen is invasive, and such sampling can lead to a risk of complications, including but not limited to limb reduction defects [4], fetal respiratory disturbances [5], and miscarriage [6]. Enables the possibility of noninvasive prenatal paternity testing (NIPPT) [8]. Aside from the noninvasiveness of cffDNA-based paternity testing that avoids risks associated with invasive procedures, encouraging results showed that cffDNA can be detected at the gestational age of week four at the earliest [9,10]. The development of highly sensitive and accurate NIPPT methods which are easy to popularize is crucial for forensic genetic researchers
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