ArticleProceedings of the National Academy of Sciences of the United States of America2007
Digital PCR for the molecular detection of fetal chromosomal aneuploidy.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 133 papers.
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Who cites it
133 citing papers in PubMed, 430 citations in OpenAlex.
- Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy.American journal of obstetrics and gynecology · 2009Trial
- A Fetal Fraction Optimized 106-Plex Digital PCR Assay for Non-Invasive Prenatal Testing of Fetal Trisomy.Diagnostics (Basel, Switzerland) · 2026Article
- Review
- Bibliometric Analysis of Publications on Prenatal Genetic Screening Using Cell-Free DNA.Cureus · 2025Review
- Application of Digital Polymerase Chain Reaction (dPCR) in Non-Invasive Prenatal Testing (NIPT).Biomolecules · 2025Review
- Artificial intelligence and machine learning in cell-free-DNA-based diagnostics.Genome research · 2025Review
- The Art (and Science) of Individualized Selection of Non-Invasive Prenatal Screening (NIPS).International journal of women's health · 2025Article
- Noninvasive fetal genotyping using deep neural networks.Briefings in bioinformatics · 2024Article
- Differential detection of megakaryocytic and erythroid DNA in plasma in hematological disorders.NPJ genomic medicine · 2024Article
- All-In-One OsciDrop Digital PCR System for Automated and Highly Multiplexed Molecular Diagnostics.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Digital PCR Discriminates between SARS-CoV-2 Omicron Variants and Immune Escape Mutations.Microbiology spectrum · 2023Article
- Reappraisal of evolving methods in non-invasive prenatal screening: Discovery, biology and clinical utility.Heliyon · 2023Review
- Non-invasive prenatal diagnosis (NIPD): current and emerging technologies.Extracellular vesicles and circulating nucleic acids · 2023Review
- Article
- QnAs with Yuk-Ming Dennis Lo: Winner of the 2022 Lasker∼DeBakey Clinical Medical Research Award.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Noninvasive fetal genotyping of single nucleotide variants and linkage analysis for prenatal diagnosis of monogenic disorders.Human genomics · 2022Article
- A dPCR-NIPT assay for detections of trisomies 21, 18 and 13 in a single-tube reaction-could it replace serum biochemical tests as a primary maternal plasma screening tool?Journal of translational medicine · 2022Article
- Primary endocrine resistance of ER+ breast cancer with ESR1 mutations interrogated by droplet digital PCR.NPJ breast cancer · 2022Article
- Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm.BMC medical genomics · 2021Article
- Liquid biopsy: state of reproductive medicine and beyond.Human reproduction (Oxford, England) · 2021Review
73 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Trisomy 21 is the most common reason that women opt for prenatal diagnosis. Conventional prenatal diagnostic methods involve the sampling of fetal materials by invasive procedures such as amniocentesis. Screening by ultrasonography and biochemical markers have been used to risk-stratify pregnant women before definitive invasive diagnostic procedures. However, these screening methods generally target epiphenomena, such as nuchal translucency, associated with trisomy 21. It would be ideal if noninvasive genetic methods were available for the direct detection of the core pathology of trisomy 21. Here we outline an approach using digital PCR for the noninvasive detection of fetal trisomy 21 by analysis of fetal nucleic acids in maternal plasma. First, we demonstrate the use of digital PCR to determine the allelic imbalance of a SNP on PLAC4 mRNA, a placenta-expressed transcript on chromosome 21, in the maternal plasma of women bearing trisomy 21 fetuses. We named this the digital RNA SNP strategy. Second, we developed a nonpolymorphism-based method for the noninvasive prenatal detection of trisomy 21. We named this the digital relative chromosome dosage (RCD) method. Digital RCD involves the direct assessment of whether the total copy number of chromosome 21 in a sample containing fetal DNA is overrepresented with respect to a reference chromosome. Even without elaborate instrumentation, digital RCD allows the detection of trisomy 21 in samples containing 25% fetal DNA. We applied the sequential probability ratio test to interpret the digital PCR data. Computer simulation and empirical validation confirmed the high accuracy of the disease classification algorithm.
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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.