Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities

Abstract

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The future of prenatal diagnosis: rapid testing or full karyotype? An audit of chromosome abnormalities and pregnancy outcomes for women referred for Down's Syndrome testing

“…In 1997, the NHS Health Technology Assessment (HTA) Programme commissioned a study to evaluate the impact of an introduction of these molecular tests into prenatal diagnosis. The results, published in 2003, 21 were wide-ranging in scope, reporting the attitudes of patients, professionals and the general public, as well as assessing the financial implications of various models for the use of these tests. Although the economic and technical assessments are now out of date, the attitude surveys are still valid and are particularly valuable in this context.…”

“…Although individual opinions on replacing karyotyping with rapid testing have been published, 14,26,27 the HTA report 21 is the only publication of which we are aware which shows the results of a questionnaire-based approach to the different options. This paper states: 'One of the conclusions that may be drawn from the surveys is that a test which detects clearly defined abnormalities presents fewer ambiguities in terms of consenting and patient management'.…”

“…The HTA report 21 predicts substantial savings following such a move, although the authors did not have access to data from an ongoing clinical service for QF-PCR. QF-PCR has now been in service in the NHS for four years, and it has been possible to estimate the staffing levels (the major ongoing cost component of these tests) required as follows: for 12,000 tests per year, staffing required for QF-PCR: 4 scientists/technical staff; for karyotype analysis: 30 scientists/technical staff.…”

Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples

“…6 When handling over 1100 samples a year, it is a cost-effective alternative to karyotyping for rapid prenatal diagnosis of common aneuploidies. 8 A comparable but more recently developed PCR-based technique named multiplex ligation-dependent probe amplification (MLPA) allows for relative quantification of up to 45 DNA target sequences in one PCR. 9 It does not require living cells or cell culture, but the input of 20 ng or more DNA.…”

Rapid Aneuploidy Detection of Chromosomes 13, 18, 21, X and Y Using Quantitative Fluorescent Polymerase Chain Reaction with Few Microdissected Fetal Cells

“…It also has the advantage of providing a quick response, which relieves maternal anxiety. QF-PCR, which is less expensive and almost entirely automated, enables more women to undergo prenatal diagnosis without a significant increase in health expenditure [37,38,71,72]. The use of innovative technology like automatic cellular scanning of slides for the detection of fetal cells from maternal peripheral blood, which we have recently optimized and used for detection and quantification of fetal cells in the maternal blood in euploid and aneuploid pregnancies, will help to avoid the traditional cumbersome and time-consuming manual detection of rare fetal cells from maternal blood [73].…”