Rethinking second‐trimester Down‐syndrome screening in the cell‐free DNA era

Cuckle, Howard

doi:10.1002/uog.20360

Cited by 3 publications

(4 citation statements)

References 26 publications

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“…However, a randomized clinical trial revealed that the miscarriage rate was not substantially different between cfDNA screening and invasive diagnosis. 3 In our center, the rate of procedure-related miscarriage (0.2% [200/100,000], unpublished) is extremely lower than the previously reported (0.8%). 3 Thus, more than 70% gravidas chose invasive diagnosis.…”

Section: Figurementioning

confidence: 63%

“…3 In our center, the rate of procedure-related miscarriage (0.2% [200/100,000], unpublished) is extremely lower than the previously reported (0.8%). 3 Thus, more than 70% gravidas chose invasive diagnosis.…”

Section: Figurementioning

confidence: 63%

“…With the advances of FTS and rapid implementation of cfDNA in early gestation, 3,4 the prevalence of aneuploidies…”

mentioning

confidence: 99%

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The role of midtrimester soft markers for aneuploidy in the era of cell-free DNA screening

Chen

2021

American Journal of Obstetrics and Gynecology

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Section: Figurementioning

confidence: 63%

Section: Figurementioning

confidence: 63%

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The role of midtrimester soft markers for aneuploidy in the era of cell-free DNA screening

Chen

2021

American Journal of Obstetrics and Gynecology

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“…NIPT has higher accuracy for prenatal assessment of fetal anomaly especially for T21, which represents the advanced technology in prenatal screening 49 . According to cost-effectiveness analysis,…”

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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Evaluation laboratory prenatal screening performance based on biological variation of risk assessment in second trimester in China

Zhong

Yuan

et al. 2022

Journal of Laboratory Medicine

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Objectives This study intends to evaluate prenatal screening risk assessment performance based on biological variation to help clinical laboratories realize their own screening performance and set the appropriate performance specifications for prenatal screening risk assessment in China. Methods Fifteen samples with detailed clinical information were distributed to participants and the prenatal screening Down syndrome risk assessment of each sample were submitted. Three levels of performance specification (optimum, desirable, minimum) derived from biological variation were used to evaluate laboratory prenatal screening risk assessment performance. Results A total of 797 laboratories participated in the survey project. There are 216 laboratories using serological double-marker test and 581 laboratories using serological triple-marker test. For each screening protocol, more than 92.00% laboratories meet minimum performance specifications, more than 84.00% laboratories meet desirable performance specifications, and only about 62.50%laboratories meet optimum performance specifications. The Feltz and Miller test indicated that there were no significant statistical differences in the RCV for double-marker screening in 5 platforms and triple-marker screening in 6 platforms. Conclusions The risk assessment of prenatal screening in the second trimester in China can be improved further. It is appropriate to choose desirable performance specifications for external quality assurance organizations to evaluate the risk assessment performance.

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Rethinking second‐trimester Down‐syndrome screening in the cell‐free DNA era

Cited by 3 publications

References 26 publications

The role of midtrimester soft markers for aneuploidy in the era of cell-free DNA screening

The role of midtrimester soft markers for aneuploidy in the era of cell-free DNA screening

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

Evaluation laboratory prenatal screening performance based on biological variation of risk assessment in second trimester in China

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