Current controversies in prenatal diagnosis: Noninvasive prenatal testing should replace other screening strategies for fetal trisomies 13, 18, 21

This is a written summary of the oral debate presented at the International Society for Prenatal Diagnosis annual conference in Edinburgh in 2023. The topic under debate is whether noninvasive prenatal testing (NIPT) using cell-free fetal DNA should replace other screening strategies for the detection of fetal trisomies 13, 18, 21. There is no disagreement that NIPT is far more sensitive and has better positive predictive values for identifying trisomies 13, 18, and 21 than traditional screening approaches using biochemical markers and measurement of nuchal translucency. The major issue lies in the potential adverse consequences associated with abandoning traditional screening methods. The source of disagreement stems primarily from whether you consider the role of ultrasound in the context of screening to be strictly for nuchal translucency measurement or whether it should be combined with a fetal anatomy scan. The debate featured two experts who presented evidence in favor of each argument. What's already known about this topic?Noninvasive screening using cell-free fetal DNA present in maternal blood shows significantly increased sensitivities and positive predictive values for the common aneuploidies (13, 18, 21) compared to traditional screening using biochemical markers and measurement of nuchal translucency.What does this study add?A collation of evidence demonstrating the advantages and disadvantages of the first-trimester combined test and noninvasive prenatal testing using cell-free fetal DNA.