Isolated choroid plexus cyst or echogenic cardiac focus on prenatal ultrasound: is genetic amniocentesis indicated?

Abstract

The purpose of this study was to determine whether or not genetic amniocentesis is warranted when isolated choroid plexus cysts (CPC) or echogenic cardiac foci (EF) are noted on prenatal ultrasound. We performed a retrospective analysis on patients from our perinatal database. All obstetric patients with CPC or EF noted on second-trimester perinatology ultrasound from April, 1998 to November, 2004 were included. Information regarding ultrasound findings and neonatal outcome were analyzed. During the study period, 515 patients with CPC or EF were evaluated. Of these, 429 (83.3%) had isolated CPC or EF and 86 (16.7%) had additional risk factors. The incidence of abnormal karyotype was 0 versus 2.3%, respectively (P = .03). The additional risk factors considered were: advanced maternal age, abnormal serum triple marker screening, and/or other abnormal ultrasound findings. Furthermore, during the study period there were 20,122 live births and 27 (0.1%) cases of aneuploidy diagnosed postnatally. Of these, none had isolated CPC or EF on prenatal ultrasound. CPC or EF noted on prenatal ultrasound warrants referral for careful consultative ultrasound evaluation. In the absence of other risk factors, however, genetic amniocentesis for isolated CPC or EF does not appear to be necessary.