ISUOG updated consensus statement on the impact of cfDNA aneuploidy testing on screening policies and prenatal ultrasound practice.

The widespread use of fetal cell-free DNA (cfDNA)-based techniques to screen for trisomy 21 and other aneuploidies has expanded greatly the range of prenatal tests available over the last few years. cfDNA tests are being incorporated rapidly into prenatal care, thus changing the traditional approach to prenatal screening and diagnosis. However, although cfDNA techniques are highly efficient, their role and performance must be considered alongside and combined with other screening modalities. The role of prenatal ultrasound, in particular, needs to be reaffirmed as cfDNA testing becomes more widely available. It is important to emphasize that the main goal of prenatal screening is to provide accurate information that will facilitate the delivery of optimized antenatal care, with the best possible outcome for both mother and fetus. Women should be informed about the prevalence and the clinical manifestation of the disease of interest and about prenatal screening performance (detection rate, false-positive rate, positive predictive value in the general population, failure rate) by appropriately trained health professionals, allowing them to make an informed decision. It is the parent’s choice to undergo such procedures, and their wishes should be determined and respected. This consensus statement constitutes a revised and updated version of the previously published ISUOG consensus statement on the impact of non-invasive prenatal testing (NIPT) on prenatal ultrasound practice1; updates will be produced on a regular basis.