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- Title
Prenatal microarray analysis as second-tier diagnostic test: single-center prospective study.
- Authors
Schmid, M.; Stary, S.; Springer, S.; Bettelheim, D.; Husslein, P.; Streubel, B.
- Abstract
Objective To evaluate the usefulness of chromosome microarrays as a second-tier test in prenatal genetic testing. Methods 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. Results 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 karyotypes, 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. Conclusion 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 © 2012 ISUQG. Published by John Wiley & Sons, Ltd.
- Subjects
MICROARRAY technology; PREGNANCY complications; CHROMOSOME abnormalities; DURATION of pregnancy; DIAGNOSIS of pregnancy; ANEUPLOIDY; GENETICS
- Publication
Ultrasound in Obstetrics & Gynecology, 2013, Vol 41, Issue 3, p267
- ISSN
0960-7692
- Publication type
Article
- DOI
10.1002/uog.12389