ReviewComputational and structural biotechnology journal2020
Genome-wide noninvasive prenatal diagnosis of monogenic disorders: Current and future trends.
Review in Computational and structural biotechnology journal, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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
17 citing papers in PubMed, 39 citations in OpenAlex.
- Twenty-Two Years of Prenatal Testing for Suspected Monogenic Disorders: A Retrospective Single-Center Experience in Western Romania.Medical sciences (Basel, Switzerland) · 2026Article
- Two decades of prenatal diagnosis in hemophilia A and B: a systematic review of global trends and current practices.Thrombosis journal · 2026Review
- Progress, clinical application and challenges of non-invasive prenatal testing for monogenic diseases.Frontiers in pediatrics · 2026Review
- Noninvasive fetal genotyping using deep neural networks.Briefings in bioinformatics · 2024Article
- Clinical and genetic features of Fanconi anemia associated with a variant of FANCA gene: Case report and literature review.Medicine · 2024Review
- Should non-invasive prenatal testing be recommended for patients who achieve pregnancy with PGT?BMC pregnancy and childbirth · 2024Article
- Population monitoring of trisomy 21: problems and approaches.Molecular cytogenetics · 2023Review
- Single-cell whole-genome sequencing, haplotype analysis in prenatal diagnosis of monogenic diseases.Life science alliance · 2023Article
- Prenatal genetic diagnosis of monogenic diseases.Advances in laboratory medicine · 2023Article
- Association of maternal risk factors with fetal aneuploidy and the accuracy of prenatal aneuploidy screening: a correlation analysis based on 12,186 karyotype reports.BMC pregnancy and childbirth · 2023Article
- The role of non-invasive prenatal testing and ultrasound in prenatal screening of fetal chromosomal abnormalities in singleton: a retrospective study.Annals of translational medicine · 2023Article
- Maternal Copy Number Imbalances in Non-Invasive Prenatal Testing: Do They Matter?Diagnostics (Basel, Switzerland) · 2022Article
- Cell-Free DNA in the Pathogenesis and Therapy of Non-Infectious Inflammations and Tumors.Biomedicines · 2022Review
- Noninvasive fetal genotyping of single nucleotide variants and linkage analysis for prenatal diagnosis of monogenic disorders.Human genomics · 2022Article
- Estimation of cell-free fetal DNA fraction from maternal plasma based on linkage disequilibrium information.NPJ genomic medicine · 2021Article
- Droplet-based digital PCR for non-invasive prenatal genetic diagnosis of α and β-thalassemia.Biomedical reports · 2021Article
- Improved noninvasive fetal variant calling using standardized benchmarking approaches.Computational and structural biotechnology journal · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Noninvasive prenatal diagnosis (NIPD) is a risk-free alternative to invasive methods for prenatal diagnosis, e.g. amniocentesis. NIPD is based on the presence of fetal DNA within the mother's plasma cell-free DNA (cfDNA). Though currently available for various monogenic diseases through detection of point mutations, NIPD is limited to detecting one mutation or up to several genes simultaneously. Noninvasive prenatal whole exome/genome sequencing (WES/WGS) has demonstrated genome-wide detection of fetal point mutations in a few studies. However, Genome-wide NIPD of monogenic disorders currently has several challenges and limitations, mainly due to the small amounts of cfDNA and fetal-derived fragments, and the deep coverage required. Several approaches have been suggested for addressing these hurdles, based on various technologies and algorithms. The first relevant software tool,
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Registered trials
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.