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Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities

In all, 80% of antenatal karyotypes are generated by Down's syndrome screening programmes (DSSP). After a positive screening, women are offered prenatal foetus karyotyping, the gold standard. Reliable molecular methods for rapid aneuploidy diagnosis (RAD: fluorescence in situ hybridization (FIS...

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Autores principales: Gekas, Jean, van den Berg, David-Gradus, Durand, Audrey, Vallée, Maud, Wildschut, Hajo Izaäk Johannes, Bujold, Emmanuel, Forest, Jean-Claude, Rousseau, François, Reinharz, Daniel
Formato: Texto
Lenguaje:English
Publicado: Nature Publishing Group 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3039505/
https://www.ncbi.nlm.nih.gov/pubmed/20842178
http://dx.doi.org/10.1038/ejhg.2010.138
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author Gekas, Jean
van den Berg, David-Gradus
Durand, Audrey
Vallée, Maud
Wildschut, Hajo Izaäk Johannes
Bujold, Emmanuel
Forest, Jean-Claude
Rousseau, François
Reinharz, Daniel
author_facet Gekas, Jean
van den Berg, David-Gradus
Durand, Audrey
Vallée, Maud
Wildschut, Hajo Izaäk Johannes
Bujold, Emmanuel
Forest, Jean-Claude
Rousseau, François
Reinharz, Daniel
author_sort Gekas, Jean
collection PubMed
description In all, 80% of antenatal karyotypes are generated by Down's syndrome screening programmes (DSSP). After a positive screening, women are offered prenatal foetus karyotyping, the gold standard. Reliable molecular methods for rapid aneuploidy diagnosis (RAD: fluorescence in situ hybridization (FISH) and quantitative fluorescence PCR (QF-PCR)) can detect common aneuploidies, and are faster and less expensive than karyotyping. In the UK, RAD is recommended as a standalone approach in DSSP, whereas the US guidelines recommend that RAD be followed up by karyotyping. A cost-effectiveness (CE) analysis of RAD in various DSSP is lacking. There is a debate over the significance of chromosome abnormalities (CA) detected with karyotyping but not using RAD. Our objectives were to compare the CE of RAD versus karyotyping, to evaluate the clinically significant missed CA and to determine the impact of detecting the missed CA. We performed computer simulations to compare six screening options followed by FISH, PCR or karyotyping using a population of 110 948 pregnancies. Among the safer screening strategies, the most cost-effective strategy was contingent screening with QF-PCR (CE ratio of $24 084 per Down's syndrome (DS) detected). Using karyotyping, the CE ratio increased to $27 898. QF-PCR missed only six clinically significant CA of which only one was expected to confer a high risk of an abnormal outcome. The incremental CE ratio (ICER) to find the CA missed by RAD was $66 608 per CA. These costs are much higher than those involved for detecting DS cases. As the DSSP are mainly designed for DS detection, it may be relevant to question the additional costs of karyotyping.
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spelling pubmed-30395052011-03-15 Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities Gekas, Jean van den Berg, David-Gradus Durand, Audrey Vallée, Maud Wildschut, Hajo Izaäk Johannes Bujold, Emmanuel Forest, Jean-Claude Rousseau, François Reinharz, Daniel Eur J Hum Genet Article In all, 80% of antenatal karyotypes are generated by Down's syndrome screening programmes (DSSP). After a positive screening, women are offered prenatal foetus karyotyping, the gold standard. Reliable molecular methods for rapid aneuploidy diagnosis (RAD: fluorescence in situ hybridization (FISH) and quantitative fluorescence PCR (QF-PCR)) can detect common aneuploidies, and are faster and less expensive than karyotyping. In the UK, RAD is recommended as a standalone approach in DSSP, whereas the US guidelines recommend that RAD be followed up by karyotyping. A cost-effectiveness (CE) analysis of RAD in various DSSP is lacking. There is a debate over the significance of chromosome abnormalities (CA) detected with karyotyping but not using RAD. Our objectives were to compare the CE of RAD versus karyotyping, to evaluate the clinically significant missed CA and to determine the impact of detecting the missed CA. We performed computer simulations to compare six screening options followed by FISH, PCR or karyotyping using a population of 110 948 pregnancies. Among the safer screening strategies, the most cost-effective strategy was contingent screening with QF-PCR (CE ratio of $24 084 per Down's syndrome (DS) detected). Using karyotyping, the CE ratio increased to $27 898. QF-PCR missed only six clinically significant CA of which only one was expected to confer a high risk of an abnormal outcome. The incremental CE ratio (ICER) to find the CA missed by RAD was $66 608 per CA. These costs are much higher than those involved for detecting DS cases. As the DSSP are mainly designed for DS detection, it may be relevant to question the additional costs of karyotyping. Nature Publishing Group 2011-01 2010-09-15 /pmc/articles/PMC3039505/ /pubmed/20842178 http://dx.doi.org/10.1038/ejhg.2010.138 Text en Copyright © 2011 Macmillan Publishers Limited http://creativecommons.org/licenses/by-nc-nd/3.0/ This work is licensed under the Creative Commons Attribution-NonCommercial-No Derivative Works 3.0 Unported License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/3.0/
spellingShingle Article
Gekas, Jean
van den Berg, David-Gradus
Durand, Audrey
Vallée, Maud
Wildschut, Hajo Izaäk Johannes
Bujold, Emmanuel
Forest, Jean-Claude
Rousseau, François
Reinharz, Daniel
Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities
title Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities
title_full Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities
title_fullStr Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities
title_full_unstemmed Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities
title_short Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities
title_sort rapid testing versus karyotyping in down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3039505/
https://www.ncbi.nlm.nih.gov/pubmed/20842178
http://dx.doi.org/10.1038/ejhg.2010.138
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