Economic evaluation of multiplex ligation-dependent probe amplification and karyotyping in prenatal diagnosis: a cost-minimization analysis

Abstract

PurposeTo assess the cost-effectiveness of Multiplex Ligation-dependent Probe Amplification (MLPA, P095 kit) compared to karyotyping.MethodsA cost-minimization analysis alongside a nationwide prospective clinical study of 4,585 women undergoing amniocentesis on behalf of their age (≥36 years), an increased risk following first trimester prenatal screening or parental anxiety.ResultsDiagnostic accuracy of MLPA (P095 kit) was comparable to karyotyping (1.0 95% CI 0.999–1.0). Health-related quality of life did not differ between the strategies (summary physical health: mean difference 0.31, p = 0.82; summary mental health: mean difference 1.91, p = 0.22). Short-term costs were lower for MLPA: mean difference €315.68 (bootstrap 95% CI €315.63–315.74; −44.4%). The long-term costs were slightly higher for MLPA: mean difference €76.42 (bootstrap 95% CI €71.32–81.52; +8.6%). Total costs were on average €240.13 (bootstrap 95% CI €235.02–245.23; −14.9%) lower in favor of MLPA. Cost differences were sensitive to proportion of terminated pregnancies, sample throughput, individual choice and performance of tests in one laboratory, but not to failure rate or the exclusion of polluted samples.ConclusionFrom an economic perspective, MLPA is the preferred prenatal diagnostic strategy in women who undergo amniocentesis on behalf of their age, following prenatal screening or parental anxiety.Electronic supplementary materialThe online version of this article (doi:10.1007/s00404-011-1921-y) contains supplementary material, which is available to authorized users.

Women’s Attitudes towards the Option to Choose between Karyotyping and Rapid Targeted Testing during Pregnancy

“…Rapid targeted tests have shown to improve cost-effectiveness as compared to karyotyping [16–18]. This appeared most beneficial when rapid targeted tests were applied as a replacement for karyotyping within larger laboratories (>1100 specimens per annum).…”

Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature

“…In recent years, DNA analysis techniques, such as quantitative fluorescence PCR or array comparative genomic hybridization, have become available for aneuploidy detection of the most common chromosomal abnormalities (aneuploidies of chromosomes 13, 18, 21, X, and Y). MLPA is a rapid high-throughput technique shown to be robust, cost-effective, and flexible for DNA deletion and duplication but also for the detection of aneuploidies [27]. Specifically, the P095 MLPA probe set was designed to detect aneuploidies of chromosomes 13, 18, 21, X, and Y.…”