The authors declare no conflict of interest.
Application of chromosomal microarray in the evaluation of abnormal prenatal findings
Article first published online: 4 NOV 2012
© 2012 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 84, Issue 1, pages 47–54, July 2013
How to Cite
Application of chromosomal microarray in the evaluation of abnormal prenatal findings., , , , , , , , , .
- Issue published online: 9 JUN 2013
- Article first published online: 4 NOV 2012
- Accepted manuscript online: 28 SEP 2012 11:57AM EST
- Manuscript Revised: 24 SEP 2012
- Manuscript Accepted: 24 SEP 2012
- Manuscript Received: 27 JUN 2012
- abnormal ultrasound;
- array CGH;
- incidental findings;
- multiple anomalies;
- prenatal diagnosis;
We performed karyotype and array comparative genomic hybridization (aCGH) analyses on 177 prenatal samples, including 162 (92%) samples from fetuses with sonographic anomalies. Overall 12 fetuses (6.8%) had abnormal karyotype and 42 (23.7%) fetuses had abnormal microarray results: 20 (11.3%) with pathogenic copy number variations (CNVs), 16 with CNVs of uncertain clinical significance, 4 with CNVs establishing carrier status for recessive, X-linked, or susceptibility to late onset dominant disease, and two CNVs with pseudomosaicism due to in vitro cultural artifacts. For 23 pregnancies (13%), aCGH contributed important new information. Our results highlight the interpretation challenges associated with CNVs of unclear significance, incidental findings, as well as technical aspects. Array CGH analysis significantly improved the detection of genomic imbalances in prenatal diagnosis of pregnancies with structural birth defects.