Approach to pregnancies with isolated soft markers

Soft marker	Definition	Aneuploidy association	Counseling and management
Echogenic intracardiac focus	Small (<6mm) echogenic area in either cardiac ventricle, as bright as surrounding bone.	LR 1.4 to 1.8 for trisomy 21	No prior screening: offer serum screening or cfDNA screening Prior negative screening: no further aneuploidy testing No indication for fetal echocardiogram, follow-up ultrasound, or postnatal evaluation
Echogenic bowel	Fetal bowel as bright or brighter than surrounding fetal bone	LR 4 to 8 for trisomy 21. Also reported with trisomy 18/13 and monosomy X	No prior screening: offer serum screening or cfDNA screening Prior negative screening: no further aneuploidy testing Evaluation for cystic fibrosis and fetal CMV infection Third trimester growth ultrasound
Choroid plexus cyst	Small fluid-filled structure within the choroid of the lateral ventricles of the fetal brain	LR 0.9 to 5.6 for trisomy 18	No prior screening: offer serum screening or cfDNA screening Prior negative screening: no further aneuploidy testing No indication for follow-up ultrasound or postnatal evaluation
Single umbilical artery	Umbilical cord with one artery and one vein, identified on cross section of umbilical cord	No increased risk for aneuploidy when isolated	No additional aneuploidy screening Third trimester ultrasound for fetal growth and consideration of weekly antenatal testing at 36 0/7 weeks
Urinary tract dilation	Increased anterior-posterior renal pelvis diameter with normal calyceal dilation, parenchymal thickness, ureteral dilation, bladder, amniotic fluid volume	LR 1.5 for trisomy 21	No prior screening: offer serum screening or cfDNA screening Prior negative screening: no further aneuploidy testing Third trimester follow-up ultrasound to determine if newborn evaluation is indicated
Shortened humerus or femur	Ratio of the observed to expected length of <0.90 for the humerus and <0.92 for the femur, based on gestational age by biparietal diameter	Shortened humeri: LR 5.1 to 7.5 for trisomy 21 Shortened femurs: LR 1.5 to 2.7 for trisomy 21	No prior screening: offer serum screening or cfDNA screening Prior negative screening: no further aneuploidy testing Thorough evaluation to rule out skeletal dysplasia Third trimester ultrasound to evaluate fetal growth
Thickened nuchal fold	Imaged in the transverse plane of the fetal head, to include the cerebellum and the occipital bone. Measurement ≥6 mm between 15-20 weeks	LR 3.8 for trisomy 21	No prior screening: offer serum screening or cfDNA screening or diagnostic testing Prior negative serum screening: option of no further testing, cfDNA screening, or diagnostic testing Prior negative cfDNA screening: no further aneuploidy testing
Absent or hypoplastic nasal bone	Imaged perpendicular to the longitudinal axis of the nose, in the midsagittal plane of the fetal face	LR 6.6 for trisomy 21	No prior screening: offer serum screening or cfDNA screening or diagnostic testing Prior negative serum screening: option of no further testing, cfDNA screening, or diagnostic testing Prior negative cfDNA screening: no further aneuploidy testing

LR: likelihood ratio; CMV: cytomegalovirus.

Adapted from: Prabhu M, Kuller JA, Biggio JR. Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester. (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013). Am J Obstet Gynecol 2021.

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Approach to pregnancies with isolated soft markers