Preimplantation genetic diagnosis (PGD) for borderline indications including human leukocyte antigens (HLA) matching, cancer predisposition, cardiac disease and their proportion in overall PGD cases for single gene disorders

Abstract

PGD abnormalities alone. Wilson score calculated confidence intervals. Pvalue <0.05 was considered significant.RESULTS: Average age was 35 (standard deviation: 4.5yrs). Observed frequencies of PGD outcomes (unaffected, affected, and carrier -AR/XL), independent of age (p¼0.915), did not differ from expected frequencies for each type of SGD (AR, p¼0.297; AD, p¼0.592; XL, p¼0.812). The total aneuploidy rate was 44% (169/388), with slightly increased aneuploidy rates in younger ages, and highest risk in the oldest age groups (Table ). The percentage of usable embryos after adding PGS was strongly related to age (p¼0.00047), with only 21% of embryos available in patients 40-45 years of age (40% reduction). Without the addition of PGS, there was a significant risk of transferring aneuploid embryos following PGD. The lowest risk was among patients 30-34 years old (28%, , and the highest risk was in patients aged 40-45 (65%, CI: 47.91-78.51).CONCLUSIONS: 1. The addition of PGS to PGD eliminates transfer of aneuploidy embryos.2. While adding PGS increases cost, it may pay off by improving the chance to achieve a disease-free viable pregnancy.3. For patients traumatized by having had an affected pregnancy or child, eliminating aneuploidy is crucial.4. Further prospective studies will shed further light on the benefit of adding PGS to PGD.