Diagnóstico prenatal y array-CGH II: gestaciones de bajo riesgo

McPherson, 2006, Genetic diagnosis and testing in clinical practice, Clin Med Res, 4, 123, 10.3121/cmr.4.2.123 Strassberg, 2011, Copy-number changes in prenatal diagnosis, Expert Rev Mol Diagn, 11, 579, 10.1586/erm.11.43 Nadler, 1970, Role of amniocentesis in the intrauterine detection of genetic disorders, New Engl J Med, 282, 596, 10.1056/NEJM197003122821105 Kuliev, 1993, Risk evaluation of CVS, Prenat Diagn, 13, 197, 10.1002/pd.1970130307 Wilson, 1994, Cordocentesis: overall pregnancy loss rate as important as procedure loss rate, Fetal Diagn Ther, 9, 142, 10.1159/000263922 Evans, 2005, Invasive prenatal diagnostic procedures 2005, Seminars in perinatology, 29, 215, 10.1053/j.semperi.2005.06.004 Nicolaides, 2011, Screening for fetal aneuploidies at 11 to 13 weeks, Prenat Diagn, 31, 7, 10.1002/pd.2637 Ferguson-Smith, 1971, Chromosome analysis before birth and its value in genetic counselling, Br Med J, 4, 69, 10.1136/bmj.4.5779.69 Cirigliano, 2001, Clinical application of multiplex quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid prenatal detection of common chromosome aneuploidies, Mol Hum Reprod, 7, 1001, 10.1093/molehr/7.10.1001 Kuo, 1991, Detection of aneuploidy involving chromosomes 13, 18, or 21, by fluorescence in situ hybridization (FISH) to interphase and metaphase amniocytes, Am J Hum Genet, 49, 112 Pinkel, 2005, Comparative genomic hybridization, Annu Rev Genomics Hum Genet, 6, 331, 10.1146/annurev.genom.6.080604.162140 Emanuel, 2007, From microscopes to microarrays: dissecting recurrent chromosomal rearrangements, Nat Rev Genet, 8, 869, 10.1038/nrg2136 Shaffer, 2006, Medical applications of array CGH and the transformation of clinical cytogenetics, Cytogenet Genome Res, 115, 303, 10.1159/000095928 Beaudet, 2010, Ethical issues raised by common copy number variants and single nucleotide polymorphisms of certain and uncertain significance in general medical practice, Genome Med, 2, 42, 10.1186/gm163 Miller, 2010, Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies, Am J Hum Genet, 86, 749, 10.1016/j.ajhg.2010.04.006 Manning, 2010, Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities, Genet Med, 12, 742, 10.1097/GIM.0b013e3181f8baad Bodurtha, 2012, Genomics and perinatal care, New Engl J Med, 366, 64, 10.1056/NEJMra1105043 Armengol, 2011, Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis, Hum Genet Fiorentino, 2011, Introducing array comparative genomic hybridization into routine prenatal diagnosis practice: a prospective study on over 1000 consecutive clinical cases, Prenat Diagn, 31, 1270, 10.1002/pd.2884 Park, 2011, Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases, Mol Cytogenet, 4, 12, 10.1186/1755-8166-4-12 D’Amours, 2012, Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype, Clin Genet, 81, 128, 10.1111/j.1399-0004.2011.01687.x Valduga, 2010, A retrospective study by oligonucleotide array-CGH analysis in 50 fetuses with multiple malformations, Prenat Diagn, 30, 333, 10.1002/pd.2460 Le Caignec, 2005, Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations, J Med Genet, 42, 121, 10.1136/jmg.2004.025478 Barrett, 2004, Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA, Proc Natl Acad Sci USA, 101, 17765, 10.1073/pnas.0407979101 Iafrate, 2004, Detection of large-scale variation in the human genome, Nat Genet, 36, 949, 10.1038/ng1416 Schluth-Bolard, 2009, Cryptic genomic imbalances in ex novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases, Eur J Med Genet, 52, 291, 10.1016/j.ejmg.2009.05.011 Ahn, 2010, Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance, Mol Cytogenet, 3, 9, 10.1186/1755-8166-3-9 Tannour-Louet, 2010, Identification of de novo copy number variants associated with human disorders of sexual development, PLoS One, 5, e15392, 10.1371/journal.pone.0015392 Wincent, 2010, Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications, Mol Syndromol, 1, 246, 10.1159/000327982 Portnoi, 2009, Microduplication 22q11.2: a new chromosomal syndrome, Eur J Med Genet, 52, 88, 10.1016/j.ejmg.2009.02.008 Furrow, 2011, Duplication of the STS region in males is a benign copy-number variant, Am J Med Genet A, 155A, 1972, 10.1002/ajmg.a.33985 Liu, 2011, Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications, Hum Mol Genet, 20, 1975, 10.1093/hmg/ddr078 Li, 2010, Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?, Eur J Med Genet, 53, 93, 10.1016/j.ejmg.2010.01.004 Firth, 2009, DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources, Am J Hum Genet, 84, 524, 10.1016/j.ajhg.2009.03.010 Riggs, 2011, Towards an evidence-based process for the clinical interpretation of copy number variation, Clin Genet Brady, 2012, Array-based approaches in prenatal diagnosis, Methods Mol Biol, 838, 151, 10.1007/978-1-61779-507-7_7 Bui, 2011, Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era?, Prenat Diagn, 31, 235, 10.1002/pd.2722