ArticlePloS one2014
Non-invasive prenatal detection of trisomy 13 using a single nucleotide polymorphism- and informatics-based approach.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.
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Who cites it
14 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.The Cochrane database of systematic reviews · 2017Pooled it
- Pooled it
- Clinical Validation of a Prenatal Cell-Free DNA Screening Test for Fetal RHD in a Large U.S. Cohort.Obstetrics and gynecology · 2025Article
- The Effect of Self-Reported Race on Noninvasive Prenatal Screening Test Characteristics.American journal of perinatology · 2025Article
- The Art (and Science) of Individualized Selection of Non-Invasive Prenatal Screening (NIPS).International journal of women's health · 2025Article
- Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies.Nature medicine · 2024Observational
- Genetic deconvolution of fetal and maternal cell-free DNA in maternal plasma enables next-generation non-invasive prenatal screening.Cell discovery · 2022Article
- A Critical Evaluation of Validation and Clinical Experience Studies in Non-Invasive Prenatal Testing for Trisomies 21, 18, and 13 and Monosomy X.Journal of clinical medicine · 2022Article
- Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions.Scientific reports · 2022Article
- Clinical performance of DNA-based prenatal screening using single-nucleotide polymorphisms approach in Thai women with singleton pregnancy.Molecular genetics & genomic medicine · 2020Article
- NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing.BMC bioinformatics · 2018Article
- NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results.Scientific reports · 2016Article
- IONA test for first-trimester detection of trisomies 21, 18 and 13.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2016Article
- Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo determine how a single nucleotide polymorphism (SNP)- and informatics-based non-invasive prenatal aneuploidy test performs in detecting trisomy 13.
methodsSeventeen trisomy 13 and 51 age-matched euploid samples, randomly selected from a larger cohort, were analyzed. Cell-free DNA was isolated from maternal plasma, amplified in a single multiplex polymerase chain reaction assay that interrogated 19,488 SNPs covering chromosomes 13, 18, 21, X, and Y, and sequenced. Analysis and copy number identification involved a Bayesian-based maximum likelihood statistical method that generated chromosome- and sample-specific calculated accuracies.
resultsOf the samples that passed a stringent DNA quality threshold (94.1%), the algorithm correctly identified 15/15 trisomy 13 and 49/49 euploid samples, for 320/320 correct copy number calls.
conclusionsThis informatics- and SNP-based method accurately detects trisomy 13-affected fetuses non-invasively and with high calculated accuracy.
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