> Detailanzeige

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

High‐resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power

Literatur-
verwaltung

Zur
Merkliste

Lösche von
Merkliste

Per Whatsapp teilen

Schließen

Merkliste



Sie können Bookmarks mittels Listen verwalten, loggen Sie sich dafür bitte in Ihr SLUB Benutzerkonto ein.
  • Medientyp: E-Artikel
  • Titel: High‐resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power
  • Beteiligte: 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
  • Erschienen: Wiley, 2014
  • Erschienen in: Prenatal Diagnosis
  • Sprache: Englisch
  • DOI: 10.1002/pd.4342
  • ISSN: 0197-3851; 1097-0223
  • Schlagwörter: Genetics (clinical) ; Obstetrics and Gynecology
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>ABSTRACT</jats:title><jats:sec><jats:title>Objective</jats:title><jats: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.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>We applied high‐resolution chromosomal microarray testing in 464 cytogenetically normal prenatal samples with any indication for invasive testing.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats: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.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats: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 &amp; Sons, Ltd.</jats:p></jats:sec>