| 1 |
Shao L, Akkari Y, Cooley LD, Miller DT, Seifert BA, Wolff DJ, et al.; ACMG Laboratory Quality Assurance Committee. Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2021;23:1818-29.
DOI
|
| 2 |
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus statement: chromosomal microarray is a firsttier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010;86:749-64.
DOI
|
| 3 |
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;367:2175-84.
DOI
|
| 4 |
Callaway JL, Shaffer LG, Chitty LS, Rosenfeld JA, Crolla JA. The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature. Prenat Diagn 2013;33:1119-23.
DOI
|
| 5 |
Armengol L, Nevado J, Serra-Juhe C, Plaja A, Mediano C, Garcia-Santiago FA, et al. Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis. Hum Genet 2012;131:513-23.
DOI
|
| 6 |
Ganapathi M, Nahum O, Levy B. Prenatal diagnosis using chromosomal SNP microarrays. Methods Mol Biol 2019;1885:187-205.
DOI
|
| 7 |
Committee on Genetics and the Society for Maternal-Fetal Medicine. Committee opinion No.682: microarrays and next-generation sequencing technology: the use of advanced genetic diagnostic tools in obstetrics and gynecology. Obstet Gynecol 2016;128:e262-8.
DOI
|
| 8 |
Society for Maternal-Fetal Medicine, Dugoff L, Norton ME, Kuller JA. The use of chromosomal microarray for prenatal diagnosis. Am J Obstet Gynecol 2016;215:B2-9. Erratum in: Am J Obstet Gynecol 2017;216:180.
|
| 9 |
Hay SB, Sahoo T, Travis MK, Hovanes K, Dzidic N, Doherty C, et al. ACOG and SMFM guidelines for prenatal diagnosis: is karyotyping really sufficient? Prenat Diagn 2018;38:184-9.
DOI
|
| 10 |
Armour CM, Dougan SD, Brock JA, Chari R, Chodirker BN, DeBie I, et al.; On-Behalf-Of the Canadian College of Medical Geneticists. Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada. J Med Genet 2018;55:215-21.
DOI
|
| 11 |
Cherry AM, Akkari YM, Barr KM, Kearney HM, Rose NC, South ST, et al. Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2017;19:845-50.
DOI
|
| 12 |
Scionti F, Di Martino MT, Pensabene L, Bruni V, Concolino D. The cytoscan HD array in the diagnosis of neurodevelopmental disorders. High Throughput 2018;7:28.
|
| 13 |
Zahir FR, Marra MA. Use of affymetrix arrays in the diagnosis of gene copy-number variation. Curr Protoc Hum Genet 2015;85:8.13.1-13.
|
| 14 |
Xu J, Xue Y, Wang J, Zhou Q, Zhang B, Yu B, et al. The necessity of prenatal diagnosis by CMA for the women with NIPS-positive results. Int J Genomics 2020;2020:2145701.
|
| 15 |
Peng JP, Yuan HM. [Application of chromosomal microarray analysis for a cohort of 2600 Chinese patients with miscarriage]. Yi Chuan 2018;40:779-88. Chinese.
|
| 16 |
Turkyilmaz A, Geckinli BB, Tekin E, Ates EA, Yarali O, Cebi AH, et al. Array-based comparative genomic hybridization analysis in children with developmental delay/intellectual disability. Balkan J Med Genet 2022;24:15-24.
|
| 17 |
South ST, Lee C, Lamb AN, Higgins AW, Kearney HM; Working Group for the American College of Medical Genetics and Genomics Laboratory Quality Assurance Committee. ACMG standards and guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013. Genet Med 2013;15:901-9.
DOI
|
| 18 |
Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, et al. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med 2020;22:245-57. Erratum in: Genet Med 2021;23:2230.
|
| 19 |
Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med 2011;13:680-5.
DOI
|
| 20 |
Ulfarsson MO, Walters GB, Gustafsson O, Steinberg S, Silva A, Doyle OM, et al. 15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia. Transl Psychiatry 2017;7:e1109.
|
| 21 |
Merikangas AK, Segurado R, Heron EA, Anney RJ, Paterson AD, Cook EH, et al. The phenotypic manifestations of rare genic CNVs in autism spectrum disorder. Mol Psychiatry 2015;20:1366-72.
DOI
|
| 22 |
Qiao Y, Mercier E, Dastan J, Hurlburt J, McGillivray B, Chudley AE, et al. Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID). BMC Med Genet 2014;15:82.
|
| 23 |
Miron PM. Preparation, culture, and analysis of amniotic fluid samples. Curr Protoc Hum Genet 2018;98:e62.
|
| 24 |
Gonzales PR, Andersen EF, Brown TR, Horner VL, Horwitz J, Rehder CW, et al. Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2022;24:255-61.
DOI
|
| 25 |
Rehder CW, David KL, Hirsch B, Toriello HV, Wilson CM, Kearney HM. American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing. Genet Med 2013;15:150-2.
DOI
|
| 26 |
Gu S, Jernegan M, Van den Veyver IB, Peacock S, Smith J, Breman A. Chromosomal microarray analysis on uncultured chorionic villus sampling can be complicated by confined placental mosaicism for aneuploidy and microdeletions. Prenat Diagn 2018;38:858-65.
DOI
|
| 27 |
Lamb AN, Rosenfeld JA, Coppinger J, Dodge ET, Dabell MP, Torchia BS, et al. Defining the impact of maternal cell contamination on the interpretation of prenatal microarray analysis. Genet Med 2012;14:914-21.
DOI
|
| 28 |
Volozonoka L, Gailite L, Perminov D, Kornejeva L, Fodina V, Kempa I, et al. Reducing misdiagnosis caused by maternal cell contamination in genetic testing for early pregnancy loss. Syst Biol Reprod Med 2020;66:410-20.
DOI
|
| 29 |
Schrijver I, Cherny SC, Zehnder JL. Testing for maternal cell contamination in prenatal samples: a comprehensive survey of current diagnostic practices in 35 molecular diagnostic laboratories. J Mol Diagn 2007;9:394-400.
DOI
|
| 30 |
Hsu LY, Kaffe S, Jenkins EC, Alonso L, Benn PA, David K, et al. Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies. Prenat Diagn 1992;12:555-73.
DOI
|
| 31 |
McKinlay Gardner RJ, Amor DJ. Chromosome abnormalities detected at prenatal diagnosis. In: McKinlay Gardner RJ, Amor DJ, eds. Gardner and Sutherland's chromosome abnormalities and genetic counseling. 5th ed. New York (NY): Oxford University Press, 2018;466-515.
|
| 32 |
Schreck RR, Falik-Borenstein Z, Hirata G. Chromosomal mosaicism in chorionic villus sampling. Clin Perinatol 1990;17:867-88.
DOI
|
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