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Vol 83, No 4 (2012)
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Will the new molecular karyotyping BACs-on-BeadsTM technique replace the traditional cytogenetic prenatal diagnostics? Preliminary reports

Krzysztof Piotrowski, Małgorzata Henkelman, Stanisław Zajączek
Ginekol Pol 2012;83(4).

open access

Vol 83, No 4 (2012)
ARTICLES

Abstract

Recently several attempts have been made to introduce molecular karyotyping techniques into prenatal diagnosis. These methods can be used not only for the diagnosis of classical aneuploidies, but first of all they should be employed in the diagnostics of microaberrations, which are not revealed by low resolution methods of classical cytogenetics. The new method BACs-on-Beads is designed for quick detection of broad panel of aneuploidies and microdeletions, by the specified detection of deletions and duplications in the examined fetal DNA acquired from amniocytes. Prenatal diagnostics was performed with the use of BACs-on-Beads and classical amniocyte karyotyping simultaneously in a group of 54 pregnancies. This new method proved to be fully compatible with typical karyotyping in cultures of amniocytes in 98,2%. It was confirmed that the main advantage of this method is the possibility of quick diagnosis, within 48 hours, with much wider spectrum of detected anomalies when compared to classical methods. Contrary to other molecular karyotyping methods, the BACs-on-Beads technique is more economical, less time consuming and less complex equipment is needed than in case of other methods. We suppose that this technique can replace classical karyotyping methods in the near future.

Abstract

Recently several attempts have been made to introduce molecular karyotyping techniques into prenatal diagnosis. These methods can be used not only for the diagnosis of classical aneuploidies, but first of all they should be employed in the diagnostics of microaberrations, which are not revealed by low resolution methods of classical cytogenetics. The new method BACs-on-Beads is designed for quick detection of broad panel of aneuploidies and microdeletions, by the specified detection of deletions and duplications in the examined fetal DNA acquired from amniocytes. Prenatal diagnostics was performed with the use of BACs-on-Beads and classical amniocyte karyotyping simultaneously in a group of 54 pregnancies. This new method proved to be fully compatible with typical karyotyping in cultures of amniocytes in 98,2%. It was confirmed that the main advantage of this method is the possibility of quick diagnosis, within 48 hours, with much wider spectrum of detected anomalies when compared to classical methods. Contrary to other molecular karyotyping methods, the BACs-on-Beads technique is more economical, less time consuming and less complex equipment is needed than in case of other methods. We suppose that this technique can replace classical karyotyping methods in the near future.
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Keywords

molecular kariotyping, prenatal diagnosis, microaberrations

About this article
Title

Will the new molecular karyotyping BACs-on-BeadsTM technique replace the traditional cytogenetic prenatal diagnostics? Preliminary reports

Journal

Ginekologia Polska

Issue

Vol 83, No 4 (2012)

Bibliographic record

Ginekol Pol 2012;83(4).

Keywords

molecular kariotyping
prenatal diagnosis
microaberrations

Authors

Krzysztof Piotrowski
Małgorzata Henkelman
Stanisław Zajączek

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