ArticlePrenatal diagnosis2015
Clinical outcome of subchromosomal events detected by whole-genome noninvasive prenatal testing.
Article in Prenatal diagnosis, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
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Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2017Guideline
- BinDel: Detecting Clinically Relevant Fetal Genomic Microdeletions Using Low-Coverage Whole-Genome Sequencing-Based NIPT.Prenatal diagnosis · 2025Article
- Article
- 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
- Positive cfDNA screening results for 22q11.2 deletion syndrome-Clinical and laboratory considerations.Frontiers in genetics · 2023Article
- Efficiency of expanded noninvasive prenatal testing in the detection of fetal subchromosomal microdeletion and microduplication in a cohort of 31,256 single pregnancies.Scientific reports · 2022Article
- Cell-free DNA screening for rare autosomal trisomies and segmental chromosome imbalances.Prenatal diagnosis · 2022Article
- Validity and Utility of Non-Invasive Prenatal Testing for Copy Number Variations and Microdeletions: A Systematic Review.Journal of clinical medicine · 2022Review
- Clinical utility of expanded NIPT for chromosomal abnormalities and etiology analysis of cytogenetic discrepancies cases.Journal of assisted reproduction and genetics · 2022Article
- Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome.Frontiers in genetics · 2022Article
- Performance of a targeted cell-free DNA prenatal test for 22q11.2 deletion in a large clinical cohort.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2021Article
- Utility of noninvasive genome-wide screening: a prospective cohort of obstetric patients undergoing diagnostic testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Clinical value for the detection of fetal chromosomal deletions/duplications by noninvasive prenatal testing in clinical practice.Molecular genetics & genomic medicine · 2021Article
- Review
- Impact of Emerging Technologies in Prenatal Genetic Counseling.Cold Spring Harbor perspectives in medicine · 2020Review
- Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Noninvasive prenatal testing: from aneuploidy to single genes.Human genetics · 2020Review
- Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies.Journal of clinical medicine · 2020Article
- Fetal fraction and noninvasive prenatal testing: What clinicians need to know.Prenatal diagnosis · 2020Review
- Non-invasive prenatal screening for Emanuel syndrome.Molecular cytogenetics · 2020Article
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveA novel algorithm to identify fetal microdeletion events in maternal plasma has been developed and used in clinical laboratory-based noninvasive prenatal testing. We used this approach to identify the subchromosomal events 5pdel, 22q11del, 15qdel, 1p36del, 4pdel, 11qdel, and 8qdel in routine testing. We describe the clinical outcomes of those samples identified with these subchromosomal events.
methodsBlood samples from high-risk pregnant women submitted for noninvasive prenatal testing were analyzed using low coverage whole genome massively parallel sequencing. Sequencing data were analyzed using a novel algorithm to detect trisomies and microdeletions.
resultsIn testing 175,393 samples, 55 subchromosomal deletions were reported. The overall positive predictive value for each subchromosomal aberration ranged from 60% to 100% for cases with diagnostic and clinical follow-up information. The total false positive rate was 0.0017% for confirmed false positives results; false negative rate and sensitivity were not conclusively determined.
conclusionNoninvasive testing can be expanded into the detection of subchromosomal copy number variations, while maintaining overall high test specificity. In the current setting, our results demonstrate high positive predictive values for testing of rare subchromosomal deletions.
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