High‐resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power. (21st March 2014)

• Record Type: Journal Article
• Authors: Oneda, Beatrice; Baldinger, Rosa; Reissmann, Regina; Reshetnikova, Irina; Krejci, Pavel; Masood, Rahim; Ochsenbein‐Kölble, Nicole; Bartholdi, Deborah; Steindl, Katharina; Morotti, Denise; Faranda, Marzia; Baumer, Alessandra; Asadollahi, Reza; Joset, Pascal; Niedrist, Dunja; Breymann, Christian; Hebisch, Gundula; Hüsler, Margaret; Mueller, René; Prentl, Elke; Wisser, Josef; Zimmermann, Roland; Rauch, Anita
• Is Part Of: Prenatal diagnosis. Volume 34:Number 6(2014:Jun.)
• Page Start: 525
• Page End: 533
• Publication Date: 2014-03-21
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.4342
• Languages: English
• ISSNs: 0197-3851

Abstract

<abstract abstract-type="main"> <title>ABSTRACT</title> <sec id="pd4342-sec-0001" sec-type="section"> <title>Objective</title> <p>The objective of this study was to determine for the first time the reliability and the diagnostic power of high‐resolution microarray testing in routine prenatal diagnostics.</p> </sec> <sec id="pd4342-sec-0002" sec-type="section"> <title>Methods</title> <p>We applied high‐resolution chromosomal microarray testing in 464 cytogenetically normal prenatal samples with any indication for invasive testing.</p> </sec> <sec id="pd4342-sec-0003" sec-type="section"> <title>Results</title> <p>High‐resolution testing revealed a diagnostic yield of 6.9% and 1.6% in cases of fetal ultrasound anomalies and cases of advanced maternal age (AMA), respectively, which is similar to previous studies using low‐resolution microarrays. In three (0.6%) additional cases with an indication of AMA, an aberration in susceptibility risk loci was detected. Moreover, one case (0.2%) showed an X‐linked aberration in a female fetus, a finding relevant for future family planning. We found the rate of cases, in which the parents had to be tested for interpretation of unreported copy number variants (3.7%), and the rate of remaining variants of unknown significance (0.4%) acceptably low. Of note, these findings did not cause termination of pregnancy after expert genetic counseling. The 0.4% rate of confined placental mosaicism was similar to that observed by conventional karyotyping and notably involved a case of placental microdeletion.</p> </sec> <sec id="pd4342-sec-0004" sec-type="section"> <title>Conclusion</title> <p>High‐resolution prenatal microarray testing is a reliable technique that increases diagnostic yield by at least 17.3% when compared with conventional karyotyping, without an increase in the frequency of variants of uncertain significance. © 2014 John Wiley & Sons, Ltd.</p> </sec> </abstract>