Cell‐free DNA noninvasive prenatal screening for aneuploidy versus conventional screening: A systematic review of economic evaluations

Abstract

Although noninvasive prenatal testing (NIPT) for aneuploidies using cell-free fetal DNA in maternal blood has been reported to have a high accuracy, only little evidence about its cost-effectiveness is available. We systematically reviewed and assessed quality of economic evaluation studies published between January 1, 2009 and January 1, 2016 where NIPT was compared to the current screening practices consisting of biochemical markers with or without nuchal translucency (NT) and/or maternal age. We included 16 studies and we found that, at current level of NIPT prices, contingent NIPT provide the best value for money, especially for publicly funded screening programs. NIPT as first-line test was found not cost-effective in the majority of studies. The NIPT unit cost, the risk cut-offs for current screening practice, the screening uptake rates (first- and second-line screening) as well as the costs and uptake rates of invasive diagnostic screening were the most common uncertain variables. The overall quality of included studies was fair. Considering a possible drop in prices and an ongoing NIPT expansion to include other chromosomes abnormalities other than T21, T18, T13 and sex chromosomes aneuploidies, future research are needed to examine the potential cost-effectiveness of implementing NIPT as first-line test.

Noninvasive prenatal testing detects microdeletion abnormalities of fetal chromosome 15

“…The most common type of abnormality is chromosomal aneuploidy, which includes trisomy 21 (Down's syndrome), trisomy 13 (Patau syndrome), trisomy 18 (Edward's syndrome), and sex chromosome aneuploidy. Noninvasive prenatal testing (NIPT) is widely used in the clinical detection of common fetal aneuploidy due to its high specificity and sensitivity; however, reports on chromosomal deletions are rare . In our clinical prenatal screening, we found a case of a mid‐pregnancy patient with an abnormal chromosome 15 deletion.…”

“…Noninvasive prenatal testing (NIPT) is widely used in the clinical detection of common fetal aneuploidy due to its high specificity and sensitivity [2][3][4] ; however, reports on chromosomal deletions are rare. 5 In our clinical prenatal screening, we found a case of a mid-pregnancy patient with an abnormal chromosome 15 deletion.…”

Comparison of first‐tier cell‐free DNA screening for common aneuploidies with conventional publically funded screening

“…Published health‐economic studies show that the cost of firs‐tier cfDNA testing is presently prohibitive as compared to second‐tier cfDNA testing . Apart from significantly lowered cost of cfDNA screening, further studies of first‐tier cfDNA screening are needed to address issues such as implementation, ethical and social impacts, and informed consent.…”

“…4,[9][10][11] Published health-economic studies show that the cost of firs-tier cfDNA testing is presently prohibitive as compared to second-tier cfDNA testing. 24…”

The factors affecting amniocentesis decision by pregnant women in the risk group and the influence of consultant

“…On the other hand, even this method has restrictions. [4] The importance of genetic consultation is not only informing pregnant women about the options in a detailed and accurate way but also explaining the test results together with the restrictions accurately. [5,6] The aim of the study is to compare and interpret the approaches and sociocultural characteristics of pregnant women that we provide genetic consultation in cases who call into doubt of the presence of aneuploidy fetus such as Down syndrome primarily but have biochemically increased risk of Down syndrome in first and second trimester screenings or due to advanced maternal age only.…”