Promises and pitfalls of first trimester sonographic markers in the detection of fetal aneuploidy

Abstract

First trimester sonographic markers are the only markers achieving detection rates above 50% in the prenatal detection of fetal aneuploidy. Although potentially they are the best markers, some concerns have arisen about its clinical application. Pitfalls may be due to inability to examine the markers, incorrect assessment, or incorrect interpretation of the findings. Markers may be unable to be examined due to maternal (maternal body habitus, previous surgery) or fetal reasons (incompatible fetal position or fetal movements). Causes of incorrect interpretation may be insufficient image magnification, incorrect caliper placement (nuchal translucency), incorrect insonation angle (nasal bone), venous contamination (ductus venosus), or arterial contamination (tricuspid regurgitation), among others. Venous contamination in ductus venosus waveforms may mimic an abnormal blood flow when it is normal, and the opposite can also occur. Finally, incorrect interpretation of a substantially increased nuchal translucency may lead to a false impression of an ominous fetal prognosis or may be confounded with a cystic hygroma.