Global Trends in Prenatal Mosaicism Research: Insights from a Bibliometric Analysis (1980–2023)
Abstract
Background: The coexistence of at least two cell lines with different genetic structures (chromosomal or single gene mutation) originating from the same zygote in an organism is defined as mosaicism. This study aimed to present a medical perspective by examining scientific articles published on diagnosis of prenatal mosaicism from a perinatal and genetic perspective with statistical methods.
Methods: The source of our study is the Web of Science (WoS) database. The articles indexed between 1980-2023 were included in our research in the database, and the studies of 2024 were not included since the effect factors are not clear yet. While searching the database, the words “Prenatal Mosaicism” were used as keywords
Results: We reached a total of 2124 publications by analyzing the WoS database using the term "prenatal mosaicism". When the citations of the documents written about prenatal mosaicism are evaluated, we found that the highest citation was made in 2022. Co-citation analysis has shown that there are 9932 authors investigating the issue of prenatal mosaicism. Collaboration and citation collaboration was observed between Mackay Memorial Hospital, National Taiwan University and National Yang Ming University. Prenatal screening and Aneuploidy were found the strongest relationship with prenatal mosaicism.
Conclusions: It is observed that the publications related prenatal mosaicism are associated with prenatal diagnosis and screening and this diagnosis has the highest publication, citation and impact power.
Keywords
References
- 1. Grati FR. Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis. J Clin Med. 2014 Jul 24;3(3):809-37.
- 2. Li S, Shi Y, Han X, Chen Y, Shen Y, Hu W, Zhao X, Wang Y. Prenatal Diagnosis of Chromosomal Mosaicism in Over 18,000 Pregnancies: A Five-Year Single-Tertiary-Center Retrospective Analysis. Front Genet. 2022 May 16;13:876887.
- 3. Kang H, Wang L, Xie Y, Chen Y, Gao C, Li X, Hu Y, Liu Q. Prenatal Diagnosis of Chromosomal Mosaicism in 18,369 Cases of Amniocentesis. Am J Perinatol. 2024 May;41(S 01):e2058-e2068.
- 4. Goldberg JD, Wohlferd MM. Incidence and outcome of chromosomal mosaicism found at the time of chorionic villus sampling. Am J Obstet Gynecol. 1997 Jun;176(6):1349-52; discussion 1352-3.
- 5. Hsu LY, Yu MT, Richkind KE, Van Dyke DL, Crandall BF, Saxe DF, Khodr GS, Mennuti M, Stetten G, Miller WA, Priest JH. Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat Diagn. 1996 Jan;16(1):1-28.
- 6. Wu L, Jin L, Chen W, Liu JM, Hu J, Yu Q, Ren XL, Huang B, He H. The true incidence of chromosomal mosaicism after preimplantation genetic testing is much lower than that indicated by trophectoderm biopsy. Hum Reprod. 2021 May 17;36(6):1691-1701.
- 7. Baart EB, Martini E, van den Berg I, Macklon NS, Galjaard RJ, Fauser BC, Van Opstal D. Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF. Hum Reprod. 2006 Jan;21(1):223-33.
- 8. Najafzadeh TM, Cahill TC, Dumars KW. Prenatal detection of chromosomal mosaicism. Prenatal Diagnosis. 1982;2(1):7-12.
- 9. Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP; MatErnal BLood IS Source to Accurately diagnose fetal aneuploidy (MELISSA) Study Group. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol. 2012 May;119(5):890-901.
- 10. Ledbetter DH, Zachary JM, Simpson JL, Golbus MS, Pergament E, Jackson L, Mahoney MJ, Desnick RJ, Schulman J, Copeland KL, et al. Cytogenetic results from the U.S. Collaborative Study on CVS. Prenat Diagn. 1992 May;12(5):317-45.