ArticlePloS one2012
Noninvasive prenatal diagnosis of fetal trisomy 21 by allelic ratio analysis using targeted massively parallel sequencing of maternal plasma DNA.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 69 citations in OpenAlex.
- Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.The Cochrane database of systematic reviews · 2017Pooled it
- Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci.Prenatal diagnosis · 2012Trial
- Advancements in Prenatal Genetic Screening and Testing: Emerging Technologies and Evolving Applications.Diagnostics (Basel, Switzerland) · 2025Review
- A method for determining potential parental contamination: linkage disequilibrium-based log-likelihood ratio analysis for IVF-PGT.Reproductive biology and endocrinology : RB&E · 2024Article
- Non-invasive Prenatal Testing in Pregnancies Following Assisted Reproduction.Current genomics · 2022Review
- Cell-free DNA for genomic profiling and minimal residual disease monitoring in Myeloma- are we there yet?American journal of blood research · 2020Review
- Article
- Prenatal and pre-implantation genetic diagnosis.Nature reviews. Genetics · 2016Review
- Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives.BioMed research international · 2015Review
- Non-invasive prenatal detection of trisomy 13 using a single nucleotide polymorphism- and informatics-based approach.PloS one · 2014Article
- Differentially expressed microRNAs in maternal plasma for the noninvasive prenatal diagnosis of Down syndrome (trisomy 21).BioMed research international · 2014Article
- SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy.Prenatal diagnosis · 2013Article
- Avoiding genetic genocide: understanding good intentions and eugenics in the complex dialogue between the medical and disability communities.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Article
- Noninvasive prenatal detection for pathogenic CNVs: the application in α-thalassemia.PloS one · 2013Article
- Development of a comprehensive noninvasive prenatal test.Genetics and molecular biologyArticle
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPlasma 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. METHODOLOGY/PRINCIPAL
findingsDNA 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. CONCLUSIONS/SIGNIFICANCE: 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.
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Registered trials
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.