How to cite this article: Raca G, Artzer A, Thorson L, Huber S, Modaff P, Laffin J, Pauli RM. 2009. Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth. Am J Med Genet Part A 149A:2437–2443.
Article first published online: 28 OCT 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 11, pages 2437–2443, November 2009
How to Cite
Raca, G., Artzer, A., Thorson, L., Huber, S., Modaff, P., Laffin, J. and Pauli, R. M. (2009), Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth. Am. J. Med. Genet., 149A: 2437–2443. doi: 10.1002/ajmg.a.33083
Amber Artzer and Laura Thorson contributed equally to this work.
- Issue published online: 28 OCT 2009
- Article first published online: 28 OCT 2009
- Manuscript Accepted: 27 JUL 2009
- Manuscript Received: 17 OCT 2008
- Department of Pathology and Laboratory Medicine, University of Wisconsin School of Medicine and Public Health
- chromosomal abnormalities;
- intrauterine death;
- fetal death
This study examined the utility of array-based comparative genomic hybridization (aCGH) in detecting genetic abnormalities associated with late pregnancy loss. Comparisons were made with classic cytogenetics to test whether aCGH represents a superior methodology for the clinical evaluation of stillbirth. Stillborn infants were selected for aCGH testing from the Wisconsin Stillbirth Service Program (WiSSP) database and tissue bank, based on abnormal clinical findings (presence of at least two abnormalities of two different organs or parts of the body). aCGH analysis was successfully completed in 15 cases which met the clinical criteria and for which sufficient amount of high quality DNA was recovered from archival material. The testing was performed using commercially available 1 Mb BAC arrays. Among 15 tested stillborns, aCGH detected two abnormalities (trisomy 21 and an unbalanced translocation between chromosomes 3 and 10), for an overall detection rate of 13% in stillborns with malformations who had normal or unobtainable cytogenetic results. This preliminary study supports the clinical value of aCGH testing in diagnostic evaluation of stillborns with congenital anomalies. © 2009 Wiley-Liss, Inc.