ArticlePloS one2020
Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions.
Article in PloS one, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed.
- Single-cell-based non-invasive screening for fetal pathogenic microimbalances using maternal blood: comparison with invasive prenatal diagnosis.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2026Observational
- Concordance between genome-wide cfDNA screening and diagnostic test results for large copy-number variants: a multi-site study from the Global Expanded NIPT Consortium.Frontiers in genetics · 2026Article
- Flexible read-aware genotype imputation from sequence using biobank sized reference panels.Nature communications · 2025Article
- Systematic analysis of COVID-19 mRNA vaccines using four orthogonal approaches demonstrates no excessive DNA impurities.NPJ vaccines · 2025Article
- Expanding the scope of non-invasive prenatal screening.Nature genetics · 2025Review
- BinDel: Detecting Clinically Relevant Fetal Genomic Microdeletions Using Low-Coverage Whole-Genome Sequencing-Based NIPT.Prenatal diagnosis · 2025Article
- A relative-independent haplotype derivation method applied for noninvasive prenatal testing for chromosomal rearrangements in a pregnant carrier.Molecular genetics and genomics : MGG · 2025Article
- Non-Invasive Prenatal Testing (NIPT): A Paradigm Shift in Prenatal Care.International journal of preventive medicine · 2025Review
- Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populations.BMC genomics · 2024Article
- Limited ability of increased sequencing depth in detecting cases missed by noninvasive prenatal testing: a comparative analysis of 3 clinical cases.Scientific reports · 2024Article
- Accuracy and depth evaluation of clinical low pass genome sequencing in the detection of mosaic aneuploidies and CNVs.BMC medical genomics · 2023Article
- Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication.European journal of medical research · 2023Article
- Non-Invasive Prenatal Testing for "Non-Medical" Traits: Ensuring Consistency in Ethical Decision-Making.The American journal of bioethics : AJOB · 2023Article
- Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling.Prenatal diagnosis · 2023Article
- Maternal Copy Number Imbalances in Non-Invasive Prenatal Testing: Do They Matter?Diagnostics (Basel, Switzerland) · 2022Article
- Incidental finding of maternal malignancy in an unusual non-invasive prenatal test and a review of similar cases.Clinical case reports · 2022Article
- Validity and Utility of Non-Invasive Prenatal Testing for Copy Number Variations and Microdeletions: A Systematic Review.Journal of clinical medicine · 2022Review
- Prenatal sonographic findings in confirmed cases of Wolf-Hirschhorn syndrome.BMC pregnancy and childbirth · 2022Article
- Liquid Biopsy as a Source of Nucleic Acid Biomarkers in the Diagnosis and Management of Lynch Syndrome.International journal of molecular sciences · 2022Review
- Automated prediction of the clinical impact of structural copy number variations.Scientific reports · 2022Article
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To study the detection limits of chromosomal microaberrations in non-invasive prenatal testing with aim for five target microdeletion syndromes, including DiGeorge, Prader-Willi/Angelman, 1p36, Cri-Du-Chat, and Wolf-Hirschhorn syndromes. We used known cases of pathogenic deletions from ISCA database to specifically define regions critical for the target syndromes. Our approach to detect microdeletions, from whole genome sequencing data, is based on sample normalization and read counting for individual bins. We performed both an in-silico study using artificially created data sets and a laboratory test on mixed DNA samples, with known microdeletions, to assess the sensitivity of prediction for varying fetal fractions, deletion lengths, and sequencing read counts. The in-silico study showed sensitivity of 79.3% for 10% fetal fraction with 20M read count, which further increased to 98.4% if we searched only for deletions longer than 3Mb. The test on laboratory-prepared mixed samples was in agreement with in-silico results, while we were able to correctly detect 24 out of 29 control samples. Our results suggest that it is possible to incorporate microaberration detection into basic NIPT as part of the offered screening/diagnostics procedure, however, accuracy and reliability depends on several specific factors.
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