Aneuploidy in the miscarriages of infertile women and the potential benefit of preimplanation genetic diagnosis

Objective To evaluate the frequency of specific aneuploidies in miscarriages in an infertility practice and calculate the potential sensitivities of the different aneuploidy screening options for preimplantation genetic diagnosis (PGD) in this setting. Design Retrospective analysis. Setting Academic reproductive endocrinology and infertility practice. Patient(s) Women with miscarriages that had karyotype analysis on products of conception. Intervention(s) None. Main Outcome Measure(s) Karyotype of spontaneous abortions compared with commercially available PGD options. Result(s) Of the 273 karyotypes analyzed, 177 (64.8%) were abnormal. The average age of the patients was 37 ± 4.5 years. Using a limited five-probe panel, 54 of the 177 (31%) abnormal karyotypes would have been detected. In contrast, an extended PGD panel (using 9, 10, or 12 chromosome probes) would have detected 127, 131, and 140 of 177 abnormalities, 72%, 74%, and 79% respectively. The difference between the limited (5-probe) and extended (9-, 10-, and 12-probe) panels was statistically significant. There was not a statistically significant difference among the extended panels. Conclusion(s) Most of the abnormalities seen in miscarriages are detectable by PGD with extended panels. A significantly higher percentage of these abnormalities could be detected by screening for 9, 10, or 12 chromosomes compared with only 5.