title: The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.
abstract: The clinical utility of microarray technologies when used in the context of prenatal diagnosis lies in the technology's ability to detect submicroscopic copy number changes that are associated with clinically significant outcomes. We have carried out a systematic review of the literature to calculate the utility of prenatal microarrays in the presence of a normal conventional karyotype. Amongst 12,362 cases in studies that recruited cases from all prenatal ascertainment groups, 295/12,362 (2.4%) overall were reported to have copy number changes with associated clinical significance (pCNC), 201/3090 (6.5%) when ascertained with an abnormal ultrasound, 50/5108 (1.0%) when ascertained because of increased maternal age and 44/4164 (1.1%) for all other ascertainment groups (e.g. parental anxiety and abnormal serum screening result). When additional prenatal microarray studies are included in which ascertainment was restricted to fetuses with abnormal ultrasound scans, 262/3730 (7.0%) were reported to have pCNCs.
authors: Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.
authors: Jonathan L A
authors: JL
authors: Callaway
authors: Lisa G
authors: LG
authors: Shaffer
authors: Lyn S
authors: LS
authors: Chitty
authors: Jill A
authors: JA
authors: Rosenfeld
authors: John A
authors: JA
authors: Crolla
mesh_terms: D002869:Chromosome Aberrations; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D059785:Karyotype; D008423:Maternal Age; D046228:Microarray Analysis; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D016216:Ultrasonography, Prenatal
references: Mol Cytogenet. 2011 May 09;4:12
references: 21549014
references: Ultrasound Obstet Gynecol. 2011 Sep;38(3):314-9
references: 21400624
references: Clin Genet. 2013 Jul;84(1):47-54
references: 23020214
references: Eur J Med Genet. 2013 Jul;56(7):341-5
references: 23454632
references: Mol Cytogenet. 2012 Sep 17;5(1):38
references: 22979998
references: Prenat Diagn. 2009 Dec;29(13):1213-7
references: 19862770
references: Prenat Diagn. 2010 Apr;30(4):333-41
references: 20155755
references: J Med Genet. 2005 Feb;42(2):121-8
references: 15689449
references: Prenat Diagn. 2010 Dec;30(12-13):1131-7
references: 20925131
references: Am J Hum Genet. 2005 Oct;77(4):606-16
references: 16175506
references: Prenat Diagn. 2012 Apr;32(4):351-61
references: 22467166
references: Eur J Hum Genet. 2013 Jul;21(7):725-30
references: 23211699
references: Prenat Diagn. 2009 Dec;29(12):1156-66
references: 19795450
references: Am J Hum Genet. 2010 May 14;86(5):749-64
references: 20466091
references: Prenat Diagn. 2013 Jun;33(6):602-8
references: 23553438
references: J Med Genet. 2010 Sep;47(9):586-94
references: 20577003
references: N Engl J Med. 2012 Dec 6;367(23):2185-93
references: 23215556
references: BJOG. 2012 Apr;119(5):614-25
references: 22313859
references: N Engl J Med. 2012 Dec 6;367(23):2175-84
references: 23215555
references: Genet Med. 2013 Jun;15(6):478-81
references: 23258348
references: Hum Genet. 2012 Mar;131(3):513-23
references: 21975797
references: Am J Hum Genet. 2013 Feb 7;92(2):167-76
references: 23313373
references: Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):335-45
references: 17910076
references: Fetal Diagn Ther. 2010;27(1):1-7
references: 20051662
references: Prenat Diagn. 2013 Jun;33(6):584-90
references: 23592436
references: PLoS One. 2012;7(2):e27835
references: 22389664
references: Clin Genet. 2012 Feb;81(2):128-41
references: 21496010
references: Mol Cytogenet. 2012 Mar 13;5(1):14
references: 22413963
references: J Med Genet. 2009 Aug;46(8):531-41
references: 19451135
references: Mol Cytogenet. 2010 Nov 26;3:24
references: 21110858
references: Prenat Diagn. 2012 Oct;32(10):976-85
references: 22865506
references: J Med Genet. 2004 Apr;41(4):241-8
references: 15060094