Fetal mosaicism, should conventional karyotype always be performed?
chromosomal microarray analysis
chromosomal mosaicism
copy number variation
karyotype
prenatal diagnosis
Journal
The journal of obstetrics and gynaecology research
ISSN: 1447-0756
Titre abrégé: J Obstet Gynaecol Res
Pays: Australia
ID NLM: 9612761
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
received:
02
08
2023
accepted:
20
09
2023
medline:
5
12
2023
pubmed:
17
10
2023
entrez:
16
10
2023
Statut:
ppublish
Résumé
The application of classical cytogenetic and DNA-based molecular techniques to detect cell lineages of mosaicism derived from cultured or noncultured fetal cells may result in discordant results. This retrospective study aimed to assess the inconsistent diagnostic outcomes, technical availability, and limitations of chromosomal microarray analysis (CMA) and karyotyping for mosaicism. A total of 75 fetuses diagnosed with mosaicism by karyotype analysis or CMA were selected, and the results from both the methods were compared and further analyzed. A total of 42 (56%, 42/75) CMA results were consistent with karyotypes, consisting of 22 cases of mosaic sex chromosomal abnormalities, 8 routine autosomal aneuploidy cases, 8 other autosome aneuploidy cases, 3 large cryptic genomic rearrangements, and 1 small supernumerary marker chromosome. Discrepancy between karyotype analysis and CMA was observed in 33 (44%, 33/75) mosaicisms involving 15 sex chromosomal abnormalities, 1 routine autosomal aneuploidies, 5 other autosome aneuploidy cases, 8 large cryptic genomic rearrangements, and 4 small supernumerary marker chromosomes. Considering the disparities between methods as well as the cell populations analyzed, both CMA and karyotype analysis have their own advantages and disadvantages. Therefore, CMA should ideally be used in combination with karyotyping to detect more cases of mosaicism than using either test alone.
Sections du résumé
BACKGROUND AND PURPOSE
OBJECTIVE
The application of classical cytogenetic and DNA-based molecular techniques to detect cell lineages of mosaicism derived from cultured or noncultured fetal cells may result in discordant results. This retrospective study aimed to assess the inconsistent diagnostic outcomes, technical availability, and limitations of chromosomal microarray analysis (CMA) and karyotyping for mosaicism.
METHODOLOGY
METHODS
A total of 75 fetuses diagnosed with mosaicism by karyotype analysis or CMA were selected, and the results from both the methods were compared and further analyzed.
RESULTS
RESULTS
A total of 42 (56%, 42/75) CMA results were consistent with karyotypes, consisting of 22 cases of mosaic sex chromosomal abnormalities, 8 routine autosomal aneuploidy cases, 8 other autosome aneuploidy cases, 3 large cryptic genomic rearrangements, and 1 small supernumerary marker chromosome. Discrepancy between karyotype analysis and CMA was observed in 33 (44%, 33/75) mosaicisms involving 15 sex chromosomal abnormalities, 1 routine autosomal aneuploidies, 5 other autosome aneuploidy cases, 8 large cryptic genomic rearrangements, and 4 small supernumerary marker chromosomes.
CONCLUSION
CONCLUSIONS
Considering the disparities between methods as well as the cell populations analyzed, both CMA and karyotype analysis have their own advantages and disadvantages. Therefore, CMA should ideally be used in combination with karyotyping to detect more cases of mosaicism than using either test alone.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2836-2848Informations de copyright
© 2023 Japan Society of Obstetrics and Gynecology.
Références
Taylor T, Gitlin S, Patrick J, Crain J, Wilson J, Griffin D. The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans. Hum Reprod Update. 2014;20(4):571-581.
Zhang Y, Zhong M, Zheng D. Chromosomal mosaicism detected by karyotyping and chromosomal microarray analysis in prenatal diagnosis. J Cell Mol Med. 2021;25(1):358-366.
Rodriguez-Purata J, Lee J, Whitehouse M, Moschini RM, Knopman J, Duke M, et al. Embryo selection versus natural selection: how do outcomes of comprehensive chromosome screening of blastocysts compare with the analysis of products of conception from early pregnancy loss (dilation and curettage) among an assisted reproductive technology population? Fertil Steril. 2015;104(6):1460-1466.e12.
Hook EB. Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use. Am J Hum Genet. 1977;29(1):94-97.
Conlin LK, Thiel BD, Bonnemann CG, Livija M, Ernst LM, Zackai EH, et al. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum Mol Genet. 2010;7:1263-1275.
Ma N, Xi H, Chen J, Peng Y, Jia Z, Yang S, et al. Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism. BMC Med Genet. 2021;14(1):56.
Saldarriaga W, García-Perdomo H, Arango-Pineda J, Fonseca J. Karyotype versus genomic hybridization for the prenatal diagnosis of chromosomal abnormalities: a metaanalysis. Am J Obstet Gynecol. 2015;212(3):330.e1-330.e10.
Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012;367(23):2175-2184.
Huang H, Wang Y, Zhang M, Lin N, Xu L. Diagnostic accuracy and value of chromosomal microarray analysis for chromosomal abnormalities in prenatal detection: a prospective clinical study. Medicine. 2021;100(20):e25999.
Hsu LYF, Benn PA. Revised guidelines for the diagnosis of mosaicism in amniocytes. Prenat Diagn. 1999;19(11):1081-1082.
South ST, Lee C, Lamb AN, Higgins AW, Kearney HM. ACMG standards and guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013. Genet Med. 2013;15(11):901-909.
Spinner NB, Conlin LK. Mosaicism and clinical genetics. Am J Med Genet C Semin Med Genet. 2014;166C(4):397-405.
American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol. 2013;122(6):1374-1377.
Cai M, Lin N, Su L, Wu X, Xie X, Xu S, et al. Fetal growth restriction: associated genetic etiology and pregnancy outcomes in a tertiary referral center. J Transl Med. 2022;20(1):168.
Levy B, Wapner R. Prenatal diagnosis by chromosomal microarray analysis. Fertil Steril. 2018;109(2):201-212.
Lallar M, Srivastava P, Rai A, Saxena D, Mandal K, Phadke SR. Cytogenetic microarray in structurally normal and abnormal foetuses: a fiveyears experience elucidating increasing acceptance and clinical utility. J Genet. 2019;98(1):1-9.
Hao M, Li L, Zhang H, Li L, Liu R, Yu Y. The difference between karyotype analysis and chromosome microarray for mosaicism of aneuploid chromosomes in prenatal diagnosis. J Clin Lab Anal. 2020;34(12):e23514.
Polityko AD, Goncharova E, Shamgina L, Drozdovskaja N, Podleschuk L, Abramchik E, et al. Pallister-Killian syndrome: rapid decrease of isochromosome 12p frequency during amniocyte subculturing. Conclusion for strategy of prenatal cytogenetic diagnostics. J Histochem Cytochem. 2005;53(3):361-364.
Thakur S, Gupta R, Tiwari B, Singh N, Saxena KK. Pallister-Killian syndrome: review of fetal phenotype. Clin Genet. 2019;95(1):79-84.
Doray B, Girard-Lemaire F, Gasser B, Baldauf JJ, De Geeter B, Spizzo M, et al. Pallister-Killian syndrome: difficulties of prenatal diagnosis. Prenat Diagn. 2002;22(6):470-477.
Rafalko JM, Caldwell S, Tynan J, Almasri E, Weinblatt V, McCullough R. Impact of mosaicism ratio on positive predictive value of cfDNA screening. Prenat Diagn. 2021;41(1):28-34.
Spinillo SL, Farina A, Sotiriadis A, Pozzoni M, Giglio S, Papale M, et al. Pregnancy outcome of confined placental mosaicism: meta-analysis of cohort studies. Am J Obstet Gynecol. 2022;227(5):714-27.e1.
Alteri A, Cermisoni GC, Pozzoni M, Gaeta G, Cavoretto PI, Vigano P. Obstetric, neonatal, and child health outcomes following embryo biopsy for preimplantation genetic testing. Hum Reprod Update. 2023;29(3):291-306.
Markus-Bustani K, Yaron Y, Goldstein M, Orr-Urtreger A, Ben-Shachar S. Undetected sex chromosome aneuploidy by chromosomal microarray. Prenat Diagn. 2012;32(11):1117-1118.
Bi W, Borgan C, Pursley AN, Hixson P, Shaw CA, Bacino CA, et al. Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era? Genet Med. 2013;15(6):450-457.
Wang JC, Radcliff J, Coe SJ, Mahon LW. Effects of platforms, size filter cutoffs, and targeted regions of cytogenomic microarray on detection of copy number variants and uniparental disomy in prenatal diagnosis: results from 5026 pregnancies. Prenat Diagn. 2019;39(3):137-156.
Liu J, Ali M, Zhou Q. Establishment and evolution of heterochromatin. Ann N Y Acad Sci. 2020;1476(1):59-77.
Sun M, Zhang H, Li G, Guy CJ, Wang X, Lu X, et al. Molecular characterization of 20 small supernumerary marker chromosome cases using array comparative genomic hybridization and fluorescence in situ hybridization. Sci Rep. 2017;7(1):10395.