Society for Maternal-Fetal Medicine

View all recommendations from this society

May 1, 2019

Don’t recommend diagnostic testing following sonographic identification of an isolated echogenic intracardiac focus (EIF) or choroid plexus cyst (CPC) in women with low-risk aneuploidy screening results.

The concept of using ultrasonographic soft markers for aneuploidy, such as EIF and CPC, was introduced in an era that predated screening for Down syndrome based on factors other than maternal age. Because the sensitivity of cell free (cfDNA) screening for Down syndrome approaches 99%, the residual risk for Down syndrome is very low in patients who have a negative cfDNA screening test result. Given the low a priori risk, the presence of an isolated EIF or CPC is unlikely to increase the detection rate for aneuploidy to any measurable degree. In addition, for a woman with an isolated EIF or CPC on a second-trimester ultrasound in the setting of any negative first- or second-trimester aneuploidy screening test result, a reasonable approach is to consider the presence of the isolated finding as a normal variant. Recent guidelines from the Society for Maternal-Fetal Medicine state that diagnostic testing should not be recommended to patients solely for the indication of an isolated EIF or CPC in the setting of a negative cfDNA screening test result or a negative first- or second-trimester screening test result.


These items are provided solely for informational purposes and are not intended as a substitute for consultation with a medical professional. Patients with any specific questions about the items on this list or their individual situation should consult their physician.

How The List Was Created

As a national medical specialty society, the Society for Maternal-Fetal Medicine relies on the input of any number of its committees in the development of various documents. In the case of the items included in this list, the Publications Committee reviewed the literature and evidence from SMFM’s published documents for possible topics. For SMFM’s first set of five recommendations a sub-group of the Committee initially developed a list of 10 items that the Committee then ranked for the top five with input and suggestions by the Society’s Executive Committee. For SMFM’s second set of recommendations, the sub-group of the Committee developed a list of 12 items that the Committee then ranked for the top five, again soliciting input and suggestions by the Society’s Executive Committee. For SMFM’s third set of five recommendations, the sub-group of the Publications Committee developed a list of 10 items that the Committee ranked for the top five, again soliciting input and suggestions by the Society’s Executive Committee. The final lists have been reviewed and approved by the Society’s Document Review Committee and Executive Committee.

SMFM’s disclosure and conflict of interest policy can be found at www.smfm.org

Sources

Society for Maternal-Fetal Medicine (SMFM). Norton ME, Biggio JR, Kuller JA, Blackwell SC. The role of ultrasound in women who undergo cell-free DNA screening. Am J Obstet Gynecol. 2017 Mar;216(3):B2-B7.

Benn P, Cuckle H, Pergament E. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet Gynecol 2013;42:15-33.