Authors' objectives:

The objectives of this study were to:

- measure the technical performance of fluorescence in situ hybridisation (FISH) and quantitative polymerase chain reaction (Q-PCR) tests versus karyotyping for prenatal testing for chromosome abnormalities

- estimate the relative costs of molecular tests under various conditions

- establish the value to women, clinicians and others of more rapid molecular test results

- assess the cost-effectiveness of molecular tests, and consider possible changes in current testing protocols.

Authors' results and conclusions: Technical capacity - does the test perform reliably and deliver accurate (i.e. precise) information?: - FISH and Q-PCR test results are as reliable and precise as karyotyping for the five most common chromosome abnormalities. Diagnostic accuracy - does the test contribute to an accurate diagnosis (of chromosome abnormalities)?: - The ability to detect the five most common chromosome abnormalities, absolute sensitivity and specificity, are 1.00 and 1.00 for FISH and 0.9565 and 0.9997 for Q-PCR, respectively. - The ability to detect all clinically significant chromosome abnormalities, relative sensitivity and relative specificity, are 0.8605 and 0.9999 for FISH and 0.8234 and 0.9996 for Q-PCR, respectively. Diagnostic impact - will the test replace other diagnostic tests or procedures?: - Preferences of clinicians, women and other stakeholders will influence diagnostic impact. - Fifty-seven per cent of obstetricians expressed a preference for molecular tests for most patients and karyotyping for a minority; only 15% would choose both tests. The views of midwives were similar. - Most women (67%) and 54% of partners expressed a pre-test preference for molecular tests. Health commissioners were undecided. The general public expressed a preference for karyotyping (60%). Patient outcome - does the test contribute to improved health/reduced anxiety for the patient?: - Quality of life measure (EuroQol EQ-5D) demonstrated significantly increased health status linked to more rapid test results. Anxiety measure (Speilberger) exhibited similar impact.

Authors' recommendations: In the current climate, the use of prenatal testing is determined by individual clinicians, laboratories and hospitals. There is evidence of a lack of equity of provision, and of regional and local variations with regard to primary risk assessment. This may well be replicated with regard to final diagnosis if molecular tests are introduced without discussion of appropriate implementation protocols based on this report. Debate and consensus will be necessary to develop clinical protocols for introduction of molecular tests and prevent continuation of inequities and variations. Important ethical issues must not be overlooked and crucial to this debate will be the needs and wishes of parents as well as the views of other stakeholders such as scientists, obstetricians and midwives.

Authors' methods: Trial

Project Status: Completed

Year Published: 2003

URL for published report: http://www.journalslibrary.nihr.ac.uk/hta/hta7100/#/abstract

URL for additional information: http://www.journalslibrary.nihr.ac.uk/hta/volume-7/issue-10

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: England, United Kingdom

Organisation Name: NIHR Health Technology Assessment programme

Contact Address: NIHR Journals Library, National Institute for Health and Care Research, Evaluation, Trials and Studies Coordinating Centre, Alpha House, University of Southampton Science Park, Southampton SO16 7NS, UK

Contact Name: journals.library@nihr.ac.uk

Contact Email: journals.library@nihr.ac.uk

Copyright: <p>2003 Queen's Printer and Controller of HMSO</p>