Isolated ‘soft signs’ of fetal choroid plexus cysts or echogenic intracardiac focus – consequences of their continued reporting

Background Choroid plexus cysts (CPC) and echogenic intracardiac focus (EIF) are obsolete soft markers found on morphology ultrasound and not a valid reason for adjusting fetal risk of aneuploidy. Method We conducted a retrospective audit of women referred to genetic counsellor and fetal medicine services at St George Hospital (SGH) and the Royal Hospital for Women (RHW) for CPC and EIF from 1 January 2006 to 31 December 2016 inclusive. Results In total, 208 CPC and/or EIF referrals were identified, 118 (57%) of which were for isolated CPC and/or EIF and 102 (49%) occurring in women low risk for aneuploidy prior to morphology ultrasound. Significantly, more women had undergone combined first-trimester screening in the 2014 to 2016 epoch vs. previous years at both SGH (P = 0.03) and RHW (P = 0.004). However, the number of women referred for CPC and EIF remained relatively constant. No fetus was born with a major structural or chromosomal abnormality in the group of low-risk women with isolated signs. However, 18% of these women were referred to both genetic counselling and fetal medicine services, 7% had NIPT after morphology, 14% had amniocentesis, and 33% had additional ultrasound(s). Conclusion Despite advances in screening technology, low-risk women are still referred to specialist services for these 2 soft signs and undergoing unnecessary follow-up, NIPT and amniocentesis.