Objective: To evaluate the clinical and economic impact of adopting noninvasive prenatal testing (NIPT) using circulating cell-free DNA as a first-line screening method for trisomy 21, 18, and 13 in the general pregnancy population. Methods: A decision-analytical model was developed to assess the impact of adopting NIPT as a primary screening test compared to conventional screening methods. The model takes the Belgium perspective and includes only the direct medical cost of screening, diagnosis, and procedure-related complications. NIPT costs are EUR 260. Clinical outcomes and the cost per trisomy detected were assessed. Sensitivity analysis measured the impact of NIPT false-positive rate (FPR) on modelled results. Results: The cost per trisomy detected was EUR 63,016 for conventional screening versus EUR 66,633 for NIPT, with a difference of EUR 3,617. NIPT reduced unnecessary invasive tests by 94.8%, decreased procedure-related miscarriages by 90.8%, and increased trisomies detected by 29.1%. Increasing the FPR of NIPT (from < 0.01 to 1.0%) increased the average number of invasive procedures required to diagnose a trisomy from 2.2 to 4.5, respectively. Conclusion: NIPT first-line screening at a reasonable cost is cost-effective and provides better clinical outcomes. However, modelled results are dependent on the adoption of an NIPT with a low FPR.

Letters to the EditorCell-free DNA testing for prenatal aneuploidy assessment: analysis of professional society statementsWe read the report by Hui et al. 1 'State-wide utilization and performance of traditional and cell-free DNA based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study' and believe that the study provides valuable information to inform practice recommendations and health policy. We were interested in the global perspective on clinical implementation of prenatal cell-free DNA (cfDNA) testing and reviewed practice guidelines published by international and national professional societies.Guidelines were identified using the Google search engine and the PubMed and EMBASE databases. Search terms included 'non-invasive prenatal testing', 'prenatal cfDNA', 'guidelines', 'society' and 'statement'. We also reviewed the content of the retrieved websites and documents and consulted with professional colleagues to find as many additional guidelines as possible. Searches

Objectives: To estimate the risk of chromosomal abnormalities and explore the application of CMA in fetuses with increased nuchal translucency (NT). Methods: A total of 374 fetuses diagnosed as increased NT from the third affiliated hospital of Guangzhou Medical University were studied retrospectively to analyse the ultrasound and CMA results. Results: Of 374 fetuses with increased NT, 109(29.1%) cases had abnormal CMA findings. All cases were divided into four groups according to the NT measurement. In group NT between 2.5-3.4 mm, 3.5-4.4 mm, 4.5-5.4 mm and NT ≥ 5.5 mm, the number of cases and the number of chromosomal abnormalities cases were 114, 26 (22.8%); 150, 33 (22.0%); 55, 19 (34.5%); 55, 31 (56.4%), respectively. There was significant difference in chromosomal abnormalities among NT groups, and the degree of fetal NT thickness was positively correlated with chromosomal abnormalities (r = 0.208, P < 0.05). There were 64 cases with other ultrasound abnormalities and 39 cases of these presented chromosomal abnormalities (60.9%). Compared the fetal chromosomal abnormalities between the cases with other ultrasound abnormalities and the cases of isolate increased nuchal translucency, the difference was significant (c 2 = 37.794P < 0.001). Conclusions: Fetuses with increased NT have a greater incidence of chromosomal abnormalities, structural malformations, and adverse pregnancy outcomes. The prevalence of chromosomal defects and adverse pregnancy outcomes increases exponentially with NT thickness. The abnormal chromosomal detection rate of fetuses with other ultrasound abnormalities was higher than that with isolate increased nuchal translucency.

Background Non-invasive prenatal testing (NIPT) as a screening method for trisomy 21 and other chromosomal abnormalities has been adopted widely across the globe. However, while many clinical validation studies have been performed, less is known regarding the patient experience with NIPT. This study explored how individuals experience NIPT in a pre- and post-test setting, where NIPT is broadly available as a primary screening method with the option of reporting beyond common trisomies. Methods Participants were recruited using social media with a strategy designed to select individuals who had the option to have NIPT as part of the TRIDENT-2 study (In the Netherlands, NIPT is only available within the TRIDENT studies executed by the NIPT consortium. This research was done independently from the NIPT consortium.) in the Netherlands. The study used online questionnaires and semi-structured interviews. Both were developed around a patient experience framework consisting of seven themes: information, patient as active participant, responsiveness of services, lived experience, continuity of care and relationships, communication, and support. Results Overall, 4539 questionnaire responses were analyzed and 60% of the respondents had experienced NIPT. Of those, 1.7% received a high-risk result for trisomy or another chromosomal copy number variant (referred to as an “additional finding”). Overall, participants felt they had received sufficient information and had control over their decision regarding whether or not to choose NIPT. The vast majority of respondents who had NIPT were positive about their experience and would use it again. Those with results showing an increased probability for trisomy or additional findings were more likely to report negative feelings such as tension and anxiety, and less likely to feel that they had been sufficiently prepared for the implications of their results. Conclusions The patient experience with first-tier NIPT in the Netherlands was largely positive. Areas for improvement included counseling on the implications of screening and the different possible outcomes of NIPT, including additional findings that may be uncovered by expanding NIPT beyond the common trisomies. The experiences reported in this study may be useful for other countries intending to implement NIPT.

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