References
- No authors listed. Midtrimester amniocentesis for prenatal diagnosis. Safety and accuracy. JAMA 236(13), 1471–1476 (1976).
- Edelmann L, Hirschhorn K. Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies. Ann. NY Acad. Sci. 1151, 157–166 (2009).
- Redon R, Ishikawa S, Fitch KR et al. Global variation in copy number in the human genome. Nature 444(7118), 444–454 (2006).
- Miller DT, Adam MP, Aradhya S 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), 749–764 (2010).
- Wapner RJ, Martin CL, Levy B et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N. Engl. J. Med. 367(23), 2175–2184 (2012).
- Schaaf CP, Wiszniewska J, Beaud et al. Copy number and SNP arrays in clinical diagnostics. Annu. Rev. Genomics Hum. Genet. 12, 25–51 (2011).
- Hillman SC, Pretlove S, Coomarasamy A et al. Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. Ultrasound Obstet. Gynecol. 37(1), 6–14 (2011).
- Girirajan S, Rosenfeld JA, Coe BP et al. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N. Engl. J. Med. 367(14), 1321–1331 (2012).
- Wyatt PR. Who’s for amniocentesis. Lancet 1(8025), 1315 (1977).
- No authors listed. Who’s for amniocentesis. Lancet 1(8019), 986–987 (1977).
- No authors listed. Long-term outlook for children with sex chromosome abnormalities. Lancet 2(8288), 27 (1982).
- Lee CN, Lin SY, Lin CH, Shih JC, Lin TH, Su YN. Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies. BJOG 119(5), 614–625 (2012).
- Shaffer LG, Dabell MP, Fisher AJ et al. Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies. Prenat. Diagn. 32(10), 976–985 (2012).
Websites
- The International Standards for Cytogenomic Arrays Consortium. www.iscaconsortium.org
- UCSC genome bioinformatics. http://genome.ucsc.edu