Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2013 Dec;33(12):1119-23.
doi: 10.1002/pd.4209. Epub 2013 Sep 8.

The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature

Jonathan L A Callaway  1 , Lisa G Shaffer, Lyn S Chitty, Jill A Rosenfeld, John A Crolla
Affiliations
Free PMC article

The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature

Jonathan L A Callaway et al. Prenat Diagn. 2013 Dec.
Free PMC article

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.

PubMed Disclaimer

References

    1. Shaw-Smith C, Redon R, Rickman L, et al. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet. 2004;41(4):241–8. - PMC - PubMed
    1. de Vries BB, Pfundt R, Leisink M. Diagnostic genome profiling in mental retardation. Am J Hum Genet. 2005;77(4):606–16. - PMC - PubMed
    1. Miller DT, Adam MP, Aradhya S. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749–64. - PMC - PubMed
    1. Shaffer LG, Bejjani BA, Torchia B. The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future. Am J Med Genet C Semin Med Genet. 2007;145C(4):335–45. - PubMed
    1. Tyreman M, Abbott KM, Willatt LR. High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings. J Med Genet. 2009;46:531–41. - PubMed

Publication types