title: Management options for echogenic intracardiac focus and choroid plexus cysts: a review including Australian Association of Obstetrical and Gynaecological Ultrasonologists consensus statement.
abstract: Echogenic intracardiac focus and choroid plexus cysts are common findings at the midtrimester ultrasound. These findings have been linked with an increased risk of Down syndrome and trisomy 18. Most fetuses with these findings will, however, not have chromosomal abnormalities, especially when these findings are isolated. Patients experience considerable anxiety when informed of these findings and require extensive counselling in order to minimize anxiety not only about aneuploidy but also about the structure and development of the heart and brain. Although early studies showed an association with aneuploidies, several recent studies have cast doubt on this association. Many of the early studies were carried out in high-risk populations or in populations that had not had the benefit of other screening tests. Many Australian and New Zealand patients will access screening tests designed to detect these aneuploidies before presenting for a midtrimester ultrasound. Patients who have been screened by nuchal translucency, maternal serum screening or some combination of the two will already have had most cases of Down syndrome and trisomy 18 detected, and any soft marker found will almost certainly be a false positive. It is time to rethink the management of these markers. Recent evidence indicates that if these markers are found in isolation in an otherwise low-risk pregnancy, then there is minimal or no increase in the risk of Down syndrome or trisomy 18: these markers should be considered normal variants. The Australian Association of Obstetrical and Gynaecological Ultrasonologists consensus statement on these markers is included.
authors.affiliation: Ultrasound Department, The Royal Women's Hospital, Victoria, Australia. bethunes@gmail.com
authors.forename: M
authors.initials: M
authors.lastname: Bethune
mesh_terms: D005260:Female; D006801:Humans; D011247:Pregnancy; D000782:Aneuploidy; D001315:Australia; D015415:Biomarkers; D020863:Central Nervous System Cysts / Q000000981:diagnostic imaging; D002831:Choroid Plexus / Q000000981:diagnostic imaging; D032921:Consensus; D004314:Down Syndrome; D005318:Fetal Heart / Q000000981:diagnostic imaging; D006176:Gynecology; D009774:Obstetrics; D011262:Pregnancy Trimester, Second; D012306:Risk; D012955:Societies, Medical; D016216:Ultrasonography, Prenatal; D003245:Consensus Statements as Topic
chemical_list: D015415:Biomarkers