Clinical References

Genetic testing is a rapidly changing field, so we feel it is critical to keep up with guidelines, recommendations, and literature discussing the role of our testing in a clinical setting. Below are several key articles discussing use of microarray testing.

Microarray Testing Guidelines / Position Statements
  • American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol. 122(6):1374-7 (2013). PubMed: 24264715, Download
  • Manning & Hudgins, Professional Practice and Guidelines Committee. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med. 12(11):742-5 (2010). PubMed: 20962661
Clinical Utility of Microarray Testing
  • Henderson et al., The impact of chromosomal microarray on clinical management: a retrospective analysis. Genet Med. 16(9):657-64 (2014). PubMed: 24625444
  • Ellison et al., Clinical Utility of Chromosomal Microarray Analysis. Pediatrics, 130 (5):e1085 – 1095 (2012). PubMed: 23071206
  • Miller et al., Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 86(5):749-64 (2010). PubMed: 20466091
  • Wapner RJ et al., Chromosome Microarray versus Karyotyping for Prenatal Diagnosis. N Engl J Med. 2012. 367(23):2175-2184. PubMed: 23215555
  • American Congress of Obstetrics and Gynecology’s Committee Opinion #581. The use of chromosomal microarray analysis is prenatal diagnosis. American College of Obstetricians and Gynecologists. Obstet Gynecol 2013. 122:1374–7. PubMed: 24264715 (Dowload)
  • Shaffer LG et al. Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies. Prenat Diagn. 2012. 32(10):976-985. PubMed: 22865506
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