What's already known about this topic?� An early scan at 11-13 + 6 weeks offers the ideal opportunity for a first detailed anatomical assessment of the fetus.� Non-invasive prenatal testing (NIPT) is superior to the combined test to screen for common trisomies, especially trisomy 21, in both singleton and twin pregnancies.
What does this study add?� In first-trimester screening strategies based on NIPT and ultrasound, many factors must be considered when choosing how to combine the two methods. We propose four screening strategies with different pro-and contra arguments.� The article may help choose the strategy that best fits local needs and health economic considerations.
| INTRODUCTIONThe introduction of non-invasive prenatal testing (NIPT) by cell-free DNA (cfDNA) has reshaped the way first-trimester screening (FTS) is performed. In several countries NIPT is offered as second line screening, after the combined test (CT) including nuchal translucency (NT) measurement and maternal serum biochemistry (free beta-HCG and PAPP-A). 1 However, there is an increasing tendency to completely replace the CT with NIPT. 2,3 It is undisputed that, in a direct comparison with the CT, NIPT is a superior screening method for common trisomies, especially trisomy 21, in both singleton and twin pregnancies. [4][5][6] The performance diminishes when microdeletions are also tested or a genome-wide approach is offered. 7 In fact, the screen-positive rate increases, the positive predictive value decreases and counseling couples to ensure informed consent becomes more challenging. [8][9][10] The additional value of these expanded menus needs to be balanced against this background. Replacing the CT with NIPT may result in a loss of the opportunity for a first detailed anatomical assessment of the fetus, which is highly valued by women. 11,12 It is known that about 30%-50% of fetal abnormalities can always be detected in the first trimester and that while some are strongly associated with chromosomal aberrations, others are isolated. 13,14 Notably, their prevalence exceeds that of genetic anomalies, especially in younger women who constitute the majority of the reproductive population. 15 Although there is still an ongoing debate, it seems reasonable that screening for structural anomalies should have its own place, next to NIPT, in the current FTS paradigm. 14,[16][17][18][19][20] The primary aim of this commentary is to present four different screening strategies combining NIPT and ultrasound in the first trimester (NIPT after CT, NIPT after a 12-13 weeks anatomical assessment, NIPT without a 12-13 weeks anatomical assessment and NIPT followed by a 12-13-week anatomical assessment) with their pro and contra arguments. We are aware that the ultimate decision on which strategy to offer will be nationally determined by costeffectiveness arguments, availability of local resources, and health policy priorities. We recognize that some pro-and contra-argumentsThis is an open access article under the terms of the Creative Commons Attribution-...