Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis
Article first published online: 23 JUL 2010
Copyright © 2010 ISUOG. Published by John Wiley & Sons, Ltd.
Ultrasound in Obstetrics & Gynecology
Volume 37, Issue 1, pages 6–14, January 2011
How to Cite
Hillman, S. C., Pretlove, S., Coomarasamy, A., Mcmullan, D. J., Davison, E. V., Maher, E. R. and Kilby, M. D. (2011), Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. Ultrasound Obstet Gynecol, 37: 6–14. doi: 10.1002/uog.7754
- Issue published online: 22 DEC 2010
- Article first published online: 23 JUL 2010
- Accepted manuscript online: 23 JUL 2010 12:00AM EST
- Manuscript Accepted: 19 JUL 2010
- array CGH;
- prenatal diagnosis;
- ultrasound abnormalities
Array comparative genomic hybridization (CGH) is transforming clinical cytogenetics with its ability to interrogate the human genome at increasingly high resolution. The aim of this study was to determine whether array CGH testing in the prenatal population provides diagnostic information over conventional karyotyping.
MEDLINE (1970 to December 2009), EMBASE (1980 to December 2009) and CINAHL (1982 to December 2009) databases were searched electronically. Studies were selected if array CGH was used on prenatal samples or if array CGH was used on postnatal samples following termination of pregnancy for structural abnormalities that were detected on an ultrasound scan. Of the 135 potential articles, 10 were included in this systematic review and eight were included in the meta-analysis. The pooled rate of extra information detected by array CGH when the prenatal karyotype was normal was meta-analyzed using a random-effects model. The pooled rate of receiving an array CGH result of unknown significance was also meta-analyzed.
Array CGH detected 3.6% (95% CI, 1.5–8.5) additional genomic imbalances when conventional karyo-typing was ‘normal’, regardless of referral indication. This increased to 5.2% (95% CI, 1.9–13.9) more than karyotyping when the referral indication was a structural malformation on ultrasound.
There appears to be an increased detection rate of chromosomal imbalances, compared with conventional karyotyping, when array CGH techniques are employed in the prenatal population. However, some are copy number imbalances that are not clinically significant. This carries implications for prenatal counseling and maternal anxiety. Copyright © 2010 ISUOG. Published by John Wiley & Sons, Ltd.