ArticleCell discovery2022
Genetic deconvolution of fetal and maternal cell-free DNA in maternal plasma enables next-generation non-invasive prenatal screening.
Article in Cell discovery, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Is It Feasible to Screen for Fetal De Novo or Paternally Inherited Pathogenic Single Nucleotide Variants in Maternal Plasma Cell-Free DNA? A Systematic Literature Review.Prenatal diagnosis · 2025Pooled it
- Cell-free DNA screening for sex chromosome aneuploidy in 67,099 pregnancies: A retrospective analysis.Journal of medical screening · 2026Article
- Integrated Single-Strand DNA Capture and Haplotype-Guided Variant Calling Platform for Non-Invasive Prenatal Testing of Monogenic Disorders.Diagnostics (Basel, Switzerland) · 2026Article
- Technological Advances in Molecular Diagnostic Methods for Hereditary Diseases in Preconception and Prenatal Settings.Current issues in molecular biology · 2026Review
- Clinical Implications and Limitations of Noninvasive Prenatal Testing for Detecting Fetal Copy Number Variations: A Multicenter Study in Shaanxi Province, China.Medical science monitor : international medical journal of experimental and clinical research · 2026Observational
- Progress, clinical application and challenges of non-invasive prenatal testing for monogenic diseases.Frontiers in pediatrics · 2026Review
- Advancements in Liquid Biopsy Technologies for Non-Invasive Detection of Placental Dysfunction and Perinatal Complications: Focus on cfDNA, cfRNA, and Extracellular Vesicles.Maternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2026Review
- Molecular point-of-care: technological evolution, clinical applications, and future perspectives.Frontiers in bioengineering and biotechnology · 2026Review
- Identification of maternalAnnals of medicine · 2025Article
- Expanding the scope of non-invasive prenatal screening.Nature genetics · 2025Review
- Genetic Deconvolution of Embryonic and Maternal Cell-Free DNA in Spent Culture Medium of Human Preimplantation Embryo Through Deep Learning.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Lessons (to be) learned from liquid biopsies: assessment of circulating cells and cell-free DNA in cancer and pregnancy-acquired microchimerism.Seminars in immunopathology · 2025Review
- Advances in cfDNA research for pregnancy-related diseases.Frontiers in cell and developmental biology · 2025Review
- Novel Algorithm for Monogenic Noninvasive Prenatal Testing With Highly Similar Parental Pathogenic Haplotypes: A Representative Case of Congenital Adrenal Hyperplasia Pedigree.Human mutation · 2025Article
- Advancing prenatal diagnosis through comprehensive fetal cell-free DNA screening.Clinical and translational medicine · 2024Article
- Aspiring toward equitable benefits from genomic advances to individuals of ancestrally diverse backgrounds.American journal of human genetics · 2024Review
- Improving prenatal diagnosis through standards and aggregation.Prenatal diagnosis · 2024Review
- Detection of chromosomal abnormalities and monogenic variants in fetal cfDNA for prenatal diagnosis.Nature medicine · 2024Article
- Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies.Nature medicine · 2024Observational
- cfDNA from maternal plasma for noninvasive screening of fetal exomes.American journal of clinical and experimental immunology · 2024Article
Corrections and comments
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Authors and funding
31 authors.
Funding
Abstract
Current non-invasive prenatal screening (NIPS) analyzes circulating fetal cell-free DNA (cfDNA) in maternal peripheral blood for selected aneuploidies or microdeletion/duplication syndromes. Many genetic disorders are refractory to NIPS largely because the maternal genetic material constitutes most of the total cfDNA present in the maternal plasma, which hinders the detection of fetus-specific genetic variants. Here, we developed an innovative sequencing method, termed coordinative allele-aware target enrichment sequencing (COATE-seq), followed by multidimensional genomic analyses of sequencing read depth, allelic fraction, and linked single nucleotide polymorphisms, to accurately separate the fetal genome from the maternal background. Analytical confounders including multiple gestations, maternal copy number variations, and absence of heterozygosity were successfully recognized and precluded for fetal variant analyses. In addition, fetus-specific genomic characteristics, including the cfDNA fragment length, meiotic error origins, meiotic recombination, and recombination breakpoints were identified which reinforced the fetal variant assessment. In 1129 qualified pregnancies tested, 54 fetal aneuploidies, 8 microdeletions/microduplications, and 8 monogenic variants were detected with 100% sensitivity and 99.3% specificity. Using the comprehensive cfDNA genomic analysis tools developed, we found that 60.3% of aneuploidy samples had aberrant meiotic recombination providing important insights into the mechanism underlying meiotic nondisjunctions. Altogether, we show that the genetic deconvolution of the fetal and maternal cfDNA enables thorough and accurate delineation of fetal genome which paves the way for the next-generation prenatal screening of essentially all types of human genetic disorders.
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Registered trials
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