Genetic evaluation of the fetus with two or more soft markers for aneuploidy on ultrasound examination after negative cell free DNA screening

Soft markers are a common finding on the second-trimester ultrasound. They are not structural anomalies but are indicators of an increased risk for chromosomal aneuploidy. Examples of soft markers include echogenic intracardiac focus, choroid plexus cyst, single umbilical artery, urinary tract dilation, slightly short humerus or femur, thickened nuchal fold, echogenic bowel, and absent or hypoplastic nasal bone.

cfDNA: cell-free DNA; FISH: fluorescence in situ hybridization.
* Some soft markers (eg, echogenic bowel, single umbilical artery, urinary tract dilation, shortened long bones) are associated with disorders other than aneuploidy, which may require additional evaluation, including diagnostic testing. Refer to UpToDate content on prenatal genetic evaluation of the fetus with anomalies or soft markers for recommendations regarding further evaluation of pregnancies with these markers.
¶ Although FISH provides a rapid result, it also adds to the cost of the fetal evaluation, so it is also reasonable to proceed directly to chromosomal microarray analysis.

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Genetic evaluation of the fetus with two or more soft markers for aneuploidy on ultrasound examination after negative cell free DNA screening