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OP07.06: 3D ultrasound assessment of placenta volume in the first trimester in pregnancies from assisted reproduction technologies (ART)

For amniocentesis there were 202 karyotype anomalies (7.8%). 110 trisomy 13,18,21; 20 sex chromosome and 13 triploidy accounted for 71% of abnormal results. Rapid karyotype by FISH was selectively used in 580 cases (22.4%). FISH was used in 95/143 cases (66.4%) potentially diagnosable with standard FISH probes. FISH was ordered in 60% of trisomy 21 cases and 85% of trisomy 18. Long-term culture confirmed the FISH results in all cases. In 0.5% culture failed. In 0.3% there were insufficient cells for FISH. Conclusions: The selective use of rapid karyotype techniques in CVS and amniocentesis produces a high detection rate but results in a significant number of cases not identified until the long-term culture (34% of potentially detectable cases for amniocentesis). For CVS specimens, rapid diagnosis alone results in a small but significant number of discordant results.