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Noninvasive prenatal diagnosis of fetal trisomy 21 by allelic ratio analysis using targeted massively parallel sequencing of maternal plasma DNA

Liao, Gary J W ; Chan, K C Allen ; Jiang, Peiyong ; Sun, Hao ; Leung, Tak Y ; Chiu, Rossa W K ; Lo, Y M Dennis Oudejans, Cees

PloS one, 2012-05, Vol.7 (5), p.e38154-e38154 [Periódico revisado por pares]

United States: Public Library of Science

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Título:
Noninvasive prenatal diagnosis of fetal trisomy 21 by allelic ratio analysis using targeted massively parallel sequencing of maternal plasma DNA
Autor: Liao, Gary J W ; Chan, K C Allen ; Jiang, Peiyong ; Sun, Hao ; Leung, Tak Y ; Chiu, Rossa W K ; Lo, Y M Dennis
Oudejans, Cees
Assuntos: Alleles ; Analysis ; Biology ; Blood ; Chromosomes ; Computer Simulation ; Deoxyribonucleic acid ; DNA ; DNA - blood ; DNA - genetics ; DNA methylation ; DNA microarrays ; DNA sequencing ; Down syndrome ; Down Syndrome - diagnosis ; Down Syndrome - genetics ; Enrichment ; Feasibility studies ; Female ; Fetus - metabolism ; Fetuses ; Gene sequencing ; Genetic markers ; Genetic research ; Genetic testing ; Genomes ; Genomic libraries ; Gynecology ; Health sciences ; High-Throughput Screening Assays ; Humans ; Hybridization ; Loci ; Markers ; Medical diagnosis ; Medicine ; Mothers ; Multiprocessing ; Obstetrics ; Pathology ; Plasma ; Polymorphism ; Polymorphism, Single Nucleotide - genetics ; Pregnancy ; Pregnant women ; Prenatal diagnosis ; Prenatal Diagnosis - methods ; Sequence Analysis, DNA ; Simulation ; Single nucleotide polymorphisms ; Single-nucleotide polymorphism ; Trisomy ; Validation studies
É parte de: PloS one, 2012-05, Vol.7 (5), p.e38154-e38154
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
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content type line 23
Conceived and designed the experiments: GJWL KCAC RWKC YMDL. Performed the experiments: GJWL. Analyzed the data: GJWL KCAC PJ HS. Contributed reagents/materials/analysis tools: TYL. Wrote the paper: GJWL KCAC YMDL.
Descrição: Plasma DNA obtained from a pregnant woman contains a mixture of maternal and fetal DNA. The fetal DNA proportion in maternal plasma is relatively consistent as determined using polymorphic genetic markers across different chromosomes in euploid pregnancies. For aneuploid pregnancies, the observed fetal DNA proportion measured using polymorphic genetic markers for the aneuploid chromosome would be perturbed. In this study, we investigated the feasibility of analyzing single nucleotide polymorphisms using targeted massively parallel sequencing to detect such perturbations in mothers carrying trisomy 21 fetuses. DNA was extracted from plasma samples collected from fourteen pregnant women carrying singleton fetuses. Hybridization-based targeted sequencing was used to enrich 2 906 single nucleotide polymorphism loci on chr7, chr13, chr18 and chr21. Plasma DNA libraries with and without target enrichment were analyzed by massively parallel sequencing. Genomic DNA samples of both the mother and fetus for each case were genotyped by single nucleotide polymorphism microarray analysis. For the targeted regions, the mean sequencing depth of the enriched samples was 225-fold higher than that of the non-enriched samples. From the targeted sequencing data, the ratio between fetus-specific and shared alleles increased by approximately 2-fold on chr21 in the paternally-derived trisomy 21 case. In comparison, the ratio is decreased by approximately 11% on chr21 in the maternally-derived trisomy 21 cases but with much overlap with the ratio of the euploid cases. Computer simulation revealed the relationship between the fetal DNA proportion, the number of informative alleles and the depth of sequencing. Targeted massively parallel sequencing of single nucleotide polymorphism loci in maternal plasma DNA is a potential approach for trisomy 21 detection. However, the method appears to be less robust than approaches using non-polymorphism-based counting of sequence tags in plasma.
Editor: United States: Public Library of Science
Idioma: Inglês

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Noninvasive prenatal diagnosis of fetal trisomy 21 by allelic ratio analysis using targeted massively parallel sequencing of maternal plasma DNA

Liao, Gary J W ; Chan, K C Allen ; Jiang, Peiyong ; Sun, Hao ; Leung, Tak Y ; Chiu, Rossa W K ; Lo, Y M Dennis Oudejans, Cees

United States: Public Library of Science

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