Prenatal microarray analysis as second-tier diagnostic test: single-center prospective study
Article first published online: 4 MAR 2013
Copyright © 2013 ISUOG. Published by John Wiley & Sons, Ltd.
Ultrasound in Obstetrics & Gynecology
Volume 41, Issue 3, pages 267–273, March 2013
How to Cite
Schmid, M., Stary, S., Springer, S., Bettelheim, D., Husslein, P. and Streubel, B. (2013), Prenatal microarray analysis as second-tier diagnostic test: single-center prospective study. Ultrasound Obstet Gynecol, 41: 267–273. doi: 10.1002/uog.12389
- Issue published online: 4 MAR 2013
- Article first published online: 4 MAR 2013
- Accepted manuscript online: 4 JAN 2013 01:24PM EST
- Manuscript Accepted: 6 DEC 2012
- genetic testing;
- prenatal diagnosis
To evaluate the usefulness of chromosome microarrays as a second-tier test in prenatal genetic testing.
We prospectively analyzed 75 high-risk pregnancies undergoing invasive prenatal genetic testing in which the karyotype either was normal or had findings other than a common non-mosaic autosomal aneuploidy.
Chromosomal microarray analysis (CMA) was performed successfully in all cases. Pathological copy-number variations (CNVs) explaining the phenotypes were found in 11 cases (14.7%). Four cases were detected with an unbalanced translocation. In three of these cases, subsequent genetic analysis demonstrated that a parent was an unknown carrier of a balanced translocation. Among the 67 cases with normal karyo-types, submicroscopic rearrangements with pathological significance were detected in five (7.5%) and CNVs of unclear significance were detected in one (1.5%). CMA was able to discriminate correctly between true mosaicism and confined or pseudomosaicism in all six mosaic cases.
CMA is a valuable second-tier test in high-risk pregnancies for which identification or further delineation of genetic aberrations is important. Its higher resolution results in a higher detection rate of aberrant cases, with a clear clinical benefit for estimation of risk of recurrence. Copyright © 2013 ISUOG. Published by John Wiley & Sons, Ltd.