ArticlePrenatal diagnosis2018
cfDNA screening and diagnosis of monogenic disorders - where are we heading?
Article in Prenatal diagnosis, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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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.
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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
27 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A systematic review and meta-analysis of cell-free DNA testing for detection of fetal sex chromosome aneuploidy.Prenatal diagnosis · 2023Pooled it
- Enhancing Prenatal Genetic Evaluation Through the Combination of Single-Gene Non-Invasive Prenatal Screening and Prenatal Imaging.Prenatal diagnosis · 2026Review
- Expanding the scope of non-invasive prenatal screening.Nature genetics · 2025Review
- A Qualitative Study of Pregnant Patient Perspectives on Genetic Privacy of Cell-Free DNA and Optimal Design of a Prenatal Genetics Video-Based Educational Intervention.Prenatal diagnosis · 2025Article
- Identification of a Homozygous Variant in theGenes · 2025Article
- Non-invasive prenatal detection of dominant single-gene disorders in fetal structural abnormalities: a clinical feasibility study.Archives of gynecology and obstetrics · 2024Article
- Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program.European journal of human genetics : EJHG · 2023Article
- Accuracy of Non-Invasive Prenatal Testing for Duchenne Muscular Dystrophy in Families at Risk: A Systematic Review.Diagnostics (Basel, Switzerland) · 2023Review
- Cell-Free DNA in the Pathogenesis and Therapy of Non-Infectious Inflammations and Tumors.Biomedicines · 2022Review
- Droplet Digital PCR for Non-Invasive Prenatal Detection of Fetal Single-Gene Point Mutations in Maternal Plasma.International journal of molecular sciences · 2022Article
- Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis.Diagnostics (Basel, Switzerland) · 2022Review
- Clinical experience with non-invasive prenatal screening for single-gene disorders.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2022Article
- Expanded knowledge of cell-free DNA biology: potential to broaden the clinical utility.Extracellular vesicles and circulating nucleic acids · 2022Review
- Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach.BMC medical genomics · 2021Article
- Estimation of cell-free fetal DNA fraction from maternal plasma based on linkage disequilibrium information.NPJ genomic medicine · 2021Article
- Sequencing Cell-free Fetal DNA in Pregnant Women With GCK-MODY.The Journal of clinical endocrinology and metabolism · 2021Article
- Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping.Genome medicine · 2021Article
- Review
- Considerations for whole exome sequencing unique to prenatal care.Human genetics · 2020Review
- Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cell-free fetal DNA analysis for non-invasive prenatal screening of fetal chromosomal aneuploidy has been widely adopted for clinical use. Fetal monogenic diseases have also been shown to be amenable to non-invasive detection by maternal plasma DNA analysis. A number of recent technological developments in this area has increased the level of clinical interest, particularly as one approach does not require customized reagents per mutation. The mutational status of the fetus can be assessed by determining which parental haplotype that fetus has inherited based on the detection of haplotype-associated SNP alleles in maternal plasma. Such relative haplotype dosage analysis requires the input of the parental haplotype information for interpretation of the fetal inheritance pattern from the maternal plasma DNA data. The parental haplotype information can be obtained by direct means, reducing the need to infer haplotypes using DNA from other family members. The technique also allows the assessment of complex mutations and has multiplexing capabilities where a number of genes and mutations can be assessed at the same time. These advantages allow non-invasive prenatal diagnosis of fetal monogenic diseases to be much more scalable. These applications may drive the next wave of clinical adoption of cell-free fetal DNA testing. © 2018 The Authors Prenatal Diagnosis Published by John Wiley & Sons Ltd.
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