What is the real “price” of more prenatal screening and fewer diagnostic procedures? Costs and trade‐offs in the genomic era

Hui, Lisa; Norton, Mary E.

doi:10.1002/pd.5228

Cited by 9 publications

(9 citation statements)

References 14 publications

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“…NIPT cannot replace the prenatal diagnosis (CVS or amniocentesis) given the accuracy and wide detectable spectrum with the development of next generation sequencing (NGS) 46 . The importance of prenatal diagnosis has been emphasized by professional guidelines worldwide, and offered as an option for general pregnancies.…”

Section: Discussionmentioning

confidence: 99%

A Cost-Effectiveness Analysis of Screening Strategies involving Noninvasive Prenatal Testing for Trisomy 21

Wang

Liu

Yang

et al. 2020

Preprint

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In the trends of increasing advanced maternal age (AMA) and decreasing cost of Noninvasive Prenatal Testing (NIPT), we investigated the benefits and cost effectiveness of NIPT as primary or contingent strategies for trisomy 21 (T21). A theoretical model involving 1,000,000 single pregnancies was established. We presented five screening scenarios, primary NIPT (Strategy 1), contingent NIPT after traditional triple serum screening higher than 1/300 or 1/1000 (Strategy 2-1 or Strategy 2-2) and age-based (Strategy 3). Strategy 3 was stratified, in which 1) for advanced maternal age (AMA) of 40 and more, prenatal diagnosis was offered, 2) for AMA of 35 to 39, NIPT was introduced, 3) if younger than 35, contingent strategy with screening risk higher than 1:300 (Strategy 3-1) or 1:1000 (Strategy 3-2) will be offered NIPT. Parameters were referred to publications or on-site verification. The primary outcome was incremental cost analysis for each strategy on baseline and alterative assumptions, which take aging society, reducing cost of NIPT and compliance into consideration. The second outcomes were total cost, cost-effect and cost-benefit analysis. If the incremental cost was less than 0.215 million US$, which was cost for raising one T21 child, or the benefit-to-cost ratio over 1, then the strategy was defined as “cost-effective”. The anticipated prenatal diagnosis was significantly reduced in Strategy 1 and 2, most notably in Strategy 2-1. For the incremental costs, strategy 2-1 was set as baseline. All other strategy costed more than raising one T21 except 3-1. In sensitivity analysis, strategy 1 costed the least when NIPT was lower than 47 US$. If NIPT less than 131 US$, the incremental cost of any strategy was less than 0.215 million US$. When the proportion of AMA accounted for more than 15% and 20% of population, incremental costs of strategy 3-1 and 3-2 were cost effective. In conclusion, contingent NIPT after traditional triple serum screening (risk higher than 1/300) was optimal in total cost (130 million US$), cost-effect (33.4 thousand US$) and cost-benefit (ratio=4.90) analysis of the model. Age-based strategy was optimal as AMA proportion and NIPT acceptance increased. The primary NIPT was most effective for certain price.

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Section: Discussionmentioning

confidence: 99%

A Cost-Effectiveness Analysis of Screening Strategies involving Noninvasive Prenatal Testing for Trisomy 21

Wang

Liu

Yang

et al. 2020

Preprint

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“…Importantly, this decline in invasive procedures has not been associated with a decline in the detection of major chromosome abnormalities. Population‐based data showed that the diagnostic yield of amniocentesis and chorionic villus sampling actually increased during this period 96 . However, at least in Australia, the rate of invasive procedures appears to have plateaued in recent years, reaching a steady state of approximately 2% of births 97…”

Section: A Decade Of Invasive Proceduresmentioning

confidence: 99%

“…Population-based data showed that the diagnostic yield of amniocentesis and chorionic villus sampling actually increased during this period. 96 However, at least in Australia, the rate of invasive procedures appears to have plateaued in recent years, reaching a steady state of approximately 2% of births. 97 In 2010, NIPT was being conceptualised primarily as a screening test for trisomy 21.…”

Section: A Decade Of Invasive Proceduresmentioning

confidence: 99%

“…The debate around the best approach continues and invasive testing is not being widely adopted, as there are both economic and ethical consequences of offering universal diagnostic testing and abandoning the presumption of a normal infant in otherwise uncomplicated pregnancies. 96 Wapner correctly predicted that genetic counselling would consequently become more complex. "Throughout this coming decade, the human genome will continue to be interrogated and will yield increasing information about the developing fetus.…”

Section: A Decade Of Invasive Proceduresmentioning

confidence: 99%

“…At least in the United States, this has borne out Wapner's prediction that the increasing yield of invasive testing among the general population would make it “ difficult to refute the argument that screening should be abandoned and all patients should be offered invasive testing ”. The debate around the best approach continues and invasive testing is not being widely adopted, as there are both economic and ethical consequences of offering universal diagnostic testing and abandoning the presumption of a normal infant in otherwise uncomplicated pregnancies 96 …”

Section: A Decade Of Invasive Proceduresmentioning

confidence: 99%

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