Abstract. Laframboise S, Nedelcu R, Murphy J, Cole DEC, Rosen B. Use of CA-125 and ultrasound in high-risk women.

Our objective was a retrospective study reporting on ovarian cancer screening in a high-risk female population using both CA-125 and ultrasound over a 7-year period. We used risk estimates of carrying a BRCA mutation that were based on family history. Subjects were screened with CA-125 and ultrasound every 6 months.

Each of 311 high-risk subjects had between 1 and 17 screening visits. Overall, 33 of 1209 (2.7%) CA-125 results were abnormal (>35 U/ml); 226 of 1342 (17%) ultrasounds were abnormal, with abnormalities ranging from benign appearing cystic changes to more ominous patterns. Since entry into the program, 29 subjects (9%) have undergone surgery. In 20 of these, the preoperative screening was normal; in six, only the ultrasound was abnormal, and in two, only the CA-125 was abnormal (46–91 U/ml). In only one subject undergoing surgery were both serial CA-125 levels (52–91 U/ml) and ultrasound abnormal. In 7 years of screening, one patient (0.3%) has been diagnosed with ovarian cancer (stage IA, grade 1 endometrioid adenocarcinoma). Overall, 31 (10%) subjects have completed BRCA testing. We conclude that despite screening results comparable to other studies, the detection of only one ovarian cancer over 7 years is lower than expected. Explanations for this observation are discussed. Despite the limitations of CA-125 and ultrasound, we continue to recommend these screening modalities for high-risk women. At the present time, they offer the best opportunity to detect ovarian cancers early. With increasing knowledge of BRCA testing, more women may benefit from this testing in assessing their personal risk.