Non-invasive prenatal paternity testing from maternal blood

Wagner, Jasenka; Džijan, Snježana; Marjanović, Damir; Lauc, Gordan

doi:10.1007/s00414-008-0292-9

Cited by 38 publications

(28 citation statements)

References 13 publications

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“…Amelogenin was the only locus that was reliably amplified by the use of AmpFLSTR. Amelogenin revealed only fetal gender, while the amplification of other autosomal loci was sporadic and insufficient for reliable paternity testing (Wagner et al 2009). The study reported here confirmed the success of this research as being relatively high: approximately 100% for loci of vWA, TH01, D13S317, 100% for amelogenin genes, 90% for loci D18251 and D21S11, giving an average success rate of 96%.…”

Section: Discussionmentioning

confidence: 99%

Detection of short tandem repeats at 5 loci and amelogenin with cell-free fetal DNA as a specimen in the development of prenatal paternity diagnostic tests

Sosiawan

Raharjo

Nuraini

et al. 2018

Egypt J Forensic Sci

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Introduction: A prenatal paternity test is one widely-used method of determining the paternity of an unborn child. Such tests using chorionic villus or amniocentesis may increase the risk of harm to both mother and foetus. In the present day, a prenatal paternity test using circulating cell-free fetal Deoxyribonucleic Acid (DNA) is one alternative method due to it being non-invasive and safe for both mother and foetus. Aim: The aim of this study is to detect Short Tandem Repeat (STR) at 5 Loci (vWA, TH01, D13S317, D18S51, and D21S11) and amelogenin genes in circulating cell-free fetal DNA in paternity tests. Materials and methods: Forty-one samples of maternal blood were obtained from pregnant woman. Circulating free fetal DNA was subsequently extracted. A paternity test was conducted using an STR test at loci vWA, TH01, D13S317, D18S51, D21S11 in circulating free fetal DNA. An analysis of the paternity test between loci > 200 bp and < 200 bp was also conducted to establish the sensitivity of the test. Results: There was a significant difference between maternal blood DNA and circulating cell-free fetal DNA (p = 0.000 D13S317; p = 0.000 D21S11; p = 0.000 D18S51; p = 0.000 vWA; p = 0.000 TH01; and p = 0.000 amelogenin genes). The locus < 200 bp also had a higher sensitivity than locus > 200 bp. Conclusion: Circulating free fetal DNA can be used as an alternative sample for prenatal paternity tests because of its similarity with maternal DNA.

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Section: Discussionmentioning

confidence: 99%

Detection of short tandem repeats at 5 loci and amelogenin with cell-free fetal DNA as a specimen in the development of prenatal paternity diagnostic tests

Sosiawan

Raharjo

Nuraini

et al. 2018

Egypt J Forensic Sci

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“…Although fetal cfDNA from maternal plasma is reliably measured, 12 and various groups have reported the amplification and detection of fetal-specific alleles using polymerase chain reaction, 13,14,15 these methods do not include sufficient fetal-specific alleles to measure paternity accurately and are not amenable to scaling of interrogated loci.…”

Section: Discussionmentioning

confidence: 99%

Informatics-based, highly accurate, noninvasive prenatal paternity testing

Ryan

Banér

Demko

et al. 2013

Genetics in Medicine

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Purpose:The aim of the study was to evaluate the diagnostic accuracy of an informatics-based, noninvasive, prenatal paternity test using array-based single-nucleotide polymorphism measurements of cell-free DNA isolated from maternal plasma.Methods:Blood samples were taken from 21 adult pregnant women (with gestational ages between 6 and 21 weeks), and a genetic sample was taken from the corresponding biological fathers. Paternity was confirmed by genetic testing of the infant, products of conception, control of fertilization, and/or preimplantation genetic diagnosis during in vitro fertilization. Parental DNA samples and maternal plasma cell-free DNA were amplified and analyzed using a HumanCytoSNP-12 array. An informatics-based method measured single-nucleotide polymorphism data, confirming or rejecting paternity. Each plasma sample with a sufficient fetal cell-free DNA fraction was independently tested against the confirmed father and 1,820 random, unrelated males.Results:One of the 21 samples had insufficient fetal cell-free DNA. The test correctly confirmed paternity for the remaining 20 samples (100%) when tested against the biological father, with P values of <10−4. For the 36,400 tests using an unrelated male as the alleged father, 99.95% (36,382) correctly excluded paternity and 0.05% (18) were indeterminate. There were no miscalls.Conclusion:A noninvasive paternity test using informatics-based analysis of single-nucleotide polymorphism array measurements accurately determined paternity early in pregnancy.

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“…Because foetal cfDNA sequences are fragmented and generally present in sizes of <150 bp (with few longer than 250 bp) [17], it is difficult to obtain sufficient effective loci using a commercial STR typing kit, especially for a female foetus [9,10]. Although mini-STR analysis has been implemented as an alternative [11], SNP analysis provides a greater guarantee of genotyping fragmented DNA because the variations of interest are much shorter.…”

Section: Introductionmentioning

confidence: 99%

“…In forensic science, recent research has sought to develop a universal approach to non-invasive paternity analysis by genotyping the paternally inherited alleles in the maternal plasma DNA using STR and single-nucleotide polymorphism (SNP) markers [9][10][11][12][13][14][15][16]. Because foetal cfDNA sequences are fragmented and generally present in sizes of <150 bp (with few longer than 250 bp) [17], it is difficult to obtain sufficient effective loci using a commercial STR typing kit, especially for a female foetus [9,10].…”

Section: Introductionmentioning

confidence: 99%

An SNP panel for the analysis of paternally inherited alleles in maternal plasma using ion Torrent PGM

et al. 2017

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Researchers have sought to develop an effective protocol for paternity analysis using cell-free DNA (cfDNA) in maternal plasma. The use of massively parallel sequencing (MPS) technology for SNP testing is attractive because of its high-throughput capacity and resolution to single-base precision. In this study, we designed a customized SNP panel for cfDNA sequencing that includes 720 short amplicons (< 140 bp) targeting SNPs on the autosome and Y chromosome. The systemic performance was evaluated using the Ion Torrent PGM, indicating balanced coverage among most of the included loci, except for 78 poorly performing SNPs that were observed to have an inconsistent allele balance, lower coverage reads or high background signals. Then, the custom panel was used to perform cfDNA genotyping in maternal plasma from 20 pregnancies in the first and second trimesters (9 to 21 weeks). By establishing an allele fraction cutoff of 2.0%, 53 to 128 autosomal SNP loci were considered informative for paternal origin. Validation results in foetal samples showed that 49.43% to 100% of the real paternal alleles were accurately identified, with incorrect alleles encountered in 3 cases. The concentration of foetal cfDNA ranged from 4.28% to 10.70%. Our results show that this amplicon-based sequencing strategy could be utilized in analysing paternally inherited alleles in maternal plasma. However, further studies and optimization are required for a more detailed and accurate interpretation of the cfDNA sequencing results based on MPS technology.

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Non-invasive prenatal paternity testing from maternal blood

Cited by 38 publications

References 13 publications

Detection of short tandem repeats at 5 loci and amelogenin with cell-free fetal DNA as a specimen in the development of prenatal paternity diagnostic tests

Detection of short tandem repeats at 5 loci and amelogenin with cell-free fetal DNA as a specimen in the development of prenatal paternity diagnostic tests

Informatics-based, highly accurate, noninvasive prenatal paternity testing

An SNP panel for the analysis of paternally inherited alleles in maternal plasma using ion Torrent PGM

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