Second trimester sonographic features of fetal chromosomal defects

Advances in ultrasound technology have dramatically improved the detection of fetal chromosomal defects. Each chromosomal defect has its own syndromal pattern of detectable abnormalities prenataly. Most commonly detectable defects are Trisomies & Triploidies. Although only an invasive test can provide a definitive diagnosis, fetuses with major chromosomal abnormalities have either external or internal defects that can be recognized by detailed ultrasonographic examination at second trimester. These are defined as ultrasound markers for fetal aneuploidy. This article provides an overview and discussion on prenatal sonographic features that may suggest the presence of a common fetal chromosomal defect.