ReviewPrenatal diagnosis2022
Parental mosaicism for apparent de novo genetic variants: Scope, detection, and counseling challenges.
Review in Prenatal diagnosis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 26 citations in OpenAlex.
- Article
- Landscape of parental postzygotic mutations across >11,000 rare disease trios.American journal of human genetics · 2026Article
- Nonclassic congenital adrenal hyperplasia and bilateral pheochromocytomas in a patient with a germline pathogenicJCEM case reports · 2026Article
- Pathways to enhancing prenatal diagnosis of skeletal dysplasias.Pregnancy (Hoboken, N.J.) · 2026Review
- Non-Inversion Variants in Sporadic Hemophilia A Rarely Recur.International journal of molecular sciences · 2026Article
- Review
- Complete Androgen Insensitivity Syndrome (CAIS) Genetic Counseling: Navigating Germline Mosaicism Concerns.Case reports in genetics · 2026Article
- Isolated gastrointestinal hereditary angioedema associated with a pathogenicFrontiers in medicine · 2026Article
- Maternal Mosaicism Challenges in Non-Invasive Prenatal Diagnosis.Prenatal diagnosis · 2025Article
- Diagnostic Yield of Exome Sequencing for Pregnancies With and Without Fetal Anomalies and for Stillbirth.Prenatal diagnosis · 2025Article
- A De NovoBiomolecules · 2025Article
- Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome.Scientific reports · 2025Article
- Parental germline mosaicism in genome-wide phased de novo variants: Recurrence risk assessment and implications for precision genetic counselling.PLoS genetics · 2025Article
- Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics.NPJ genomic medicine · 2024Article
- [Sperm Mosaic Variants and Their Influence on the Offspring].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2024Review
- Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants.Human genomics · 2023Article
- Parental mosaicism detection and preimplantation genetic testing in families with multiple transmissions of de novo mutations.Journal of medical genetics · 2023Article
- Identification of two novel and one rare mutation inFrontiers in genetics · 2023Article
- High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV.Molecular genetics & genomic medicine · 2022Article
- Case report: A novel case of parental mosaicism inFrontiers in genetics · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
The disease burden of de novo mutations (DNMs) has been evidenced only recently when the common application of next-generation sequencing technologies enabled their reliable and affordable detection through family-based clinical exome or genome sequencing. Implementation of exome sequencing into prenatal diagnostics revealed that up to 63% of pathogenic or likely pathogenic variants associated with fetal structural anomalies are apparently de novo, primarily for autosomal dominant disorders. Apparent DNMs have been considered to primarily occur as germline or zygotic events, with consequently negligible recurrence risks. However, there is now evidence that a considerable proportion of them are in fact inherited from a parent mosaic for the variant. Here, we review the burden of DNMs in prenatal diagnostics and the influence of parental mosaicism on the interpretation of apparent DNMs and discuss the challenges with detecting and quantifying parental mosaicism and its effect on recurrence risk. We also describe new bioinformatic and technological tools developed to assess mosaicism and discuss how they improve the accuracy of reproductive risk counseling when parental mosaicism is detected.
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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.