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

textabstractPurpose: To assess the cost-effectiveness of Multiplex Ligation-dependent Probe Amplification (MLPA, P095 kit) compared to karyotyping. Methods: A 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. Results: Diagnostic 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. Conclusion: From 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

Prenatal diagnosis in the Netherlands, 1991-2000: Number of invasive procedures, indications, abnormal results and terminations of pregnancy

Objective To provide an overview of invasive prenatal diagnosis in the Netherlands and to analyse trends. Methods Annual results from all centres for invasive prenatal diagnosis in the Netherlands over the period 1991-2000 were combined and described, with particular emphasis on indications, abnormal results, type of invasive procedures, and terminations of pregnancy. Results The percentage of invasive prenatal diagnosis increased from 5% of births in 1991 to 6% in 1996 and subsequently remained at that level. During the study period, the number of pregnant women aged 36 and older increased by 70%, but the number of procedures performed because of maternal age remained stable. The detection rate for abnormal results was 2-3% for maternal age and rose from 9 to 13% for other indications. Other trends during the study period included a relative decrease in cordocentesis (-82%) and chorionic villi biopsy (-18%) in favour of amniocentesis (+48%), and a strong decrease in the number of amniocentesis procedures for increased risk of neural tube defect. In 71% of the cases with abnormal results, the pregnancy was terminated. Conclusion There was a significant decrease in the percentage of pregnant women aged 36 or older who underwent invasive prenatal diagnosis without previous screening. Copyright (C) 2007 John Wiley & Sons, Lt