ArticleMolecular cytogenetics2019
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Article in Molecular cytogenetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Polycystic Kidney Disease in Children: The Current Status and the Next Horizon.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2025Review
- Application of Digital Polymerase Chain Reaction (dPCR) in Non-Invasive Prenatal Testing (NIPT).Biomolecules · 2025Review
- Non-Invasive Prenatal Testing in the Kingdom of Saudi Arabia: Current Status of Adoption and Roadmap for the Future.The application of clinical genetics · 2025Article
- Noninvasive Prenatal Testing Test Versus Chorionic Villus Sampling, Where Are We Now?Maternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2024Article
- Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies.Nature medicine · 2024Observational
- Article
- Genetic deconvolution of fetal and maternal cell-free DNA in maternal plasma enables next-generation non-invasive prenatal screening.Cell discovery · 2022Article
- False-positives and false-negatives in non-invasive prenatal testing (NIPT): what can we learn from a meta-analyses on > 750,000 tests?Molecular cytogenetics · 2022Article
- Validity and Utility of Non-Invasive Prenatal Testing for Copy Number Variations and Microdeletions: A Systematic Review.Journal of clinical medicine · 2022Review
- Genetic Counseling and Management: The First Study to Report NIPT Findings in a Romanian Population.Medicina (Kaunas, Lithuania) · 2022Article
- Enrichment of circulating trophoblasts from maternal blood using filtration-based Metacell® technology.PloS one · 2022Article
- Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach.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
- Simultaneous detection of fetal aneuploidy, de novo FGFR3 mutations and paternally derived β-thalassemia by a novel method of noninvasive prenatal testing.Prenatal diagnosis · 2021Article
- Amniocentesis and Next Generation Sequencing (NGS)-Based Noninvasive Prenatal DNA Testing (NIPT) for Prenatal Diagnosis of Fetal Chromosomal Disorders.International journal of general medicine · 2021Article
- Prenatal genetic diagnosis: Fetal therapy as a possible solution to a positive test.Acta bio-medica : Atenei Parmensis · 2020Article
- A Novel Graphic-Aided Algorithm (gNIPT) Improves the Accuracy of Noninvasive Prenatal Testing.BioMed research international · 2020Article
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Authors and funding
16 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNon-invasive prenatal testing (NIPT) has been widely adopted for the detection of fetal aneuploidies and microdeletion syndromes, nevertheless, limited clinical utilization has been reported for the non-invasive prenatal screening of monogenic diseases. In this study, we present the development and validation of a single comprehensive NIPT for prenatal screening of chromosomal aneuploidies, microdeletions and 50 autosomal recessive disorders associated with severe or moderate clinical phenotype.
resultsWe employed a targeted capture enrichment technology powered by custom TArget Capture Sequences (TACS) and multi-engine bioinformatics analysis pipeline to develop and validate a novel NIPT test. This test was validated using 2033 cell-fee DNA (cfDNA) samples from maternal plasma of pregnant women referred for NIPT and paternal genomic DNA. Additionally, 200 amniotic fluid and CVS samples were used for validation purposes. All NIPT samples were correctly classified exhibiting 100% sensitivity (CI 89.7-100%) and 100% specificity (CI 99.8-100%) for chromosomal aneuploidies and microdeletions. Furthermore, 613 targeted causative mutations, of which 87 were unique, corresponding to 21 monogenic diseases, were identified. For the validation of the assay for prenatal diagnosis purposes, all aneuploidies, microdeletions and point mutations were correctly detected in all 200 amniotic fluid and CVS samples.
conclusionsWe present a NIPT for aneuploidies, microdeletions, and monogenic disorders. To our knowledge this is the first time that such a comprehensive NIPT is available for clinical implementation.
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