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- W4200220110 abstract "Fragile X syndrome is caused by a CGG trinucleotide repeat expansion in the FMR1 gene on the X chromosome. Female carriers of expansions in the premutation range are at risk for passing on a full mutation to their children. One option to decrease the risk of having an affected child is in vitro fertilization (IVF) with preimplantation genetic testing for monogenic/single gene defects (PGT-M). However, premutation carriers are at increased risk of diminished ovarian reserve (DOR) and increased aneuploidy rates have previously been observed in DOR patients.1 Here, we evaluate whether increased aneuploidy rates are seen in the blastocysts of FMR1 expansion carriers who pursued PGT-M with concurrent preimplantation genetic testing for aneuploidy (PGT-A). A retrospective analysis was conducted on trophectoderm (TE) biopsy results from IVF patients referred for PGT-M for an FMR1 gene expansion. TE biopsies were performed according to each clinic’s standard practice and shipped to a single laboratory for genotyping using Illumina Cyto12 SNP-based microarrays with bioinformatics. A control group of maternal age-matched PGT-A patients was used for comparison. Statistical analysis was performed using a two-tailed t-test. Between December 2010 and November 2020, a total of 1475 TE embryo biopsies were tested, with results reported on 1428 samples (96.8%). The overall aneuploid rate was 42.7% and the mutation positive rate was 50.9%. The aneuploid rate for age-matched controls was 44.6% (Table 1). When divided by CGG repeat length, the aneuploid rate for full FMR1 mutation cases was greater than that of the age matched controls, but this finding was not statistically significant. Overall, we did not observe an increase in aneuploid rates among all FMR1 mutation carriers compared to age-matched controls. Results indicate a trend toward higher aneuploidy rates with increasing repeat length, however further studies are needed to corroborate these findings. This information could be useful in counseling FMRI carriers regarding IVF and PGT outcomes." @default.
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- W4200220110 date "2021-09-01" @default.
- W4200220110 modified "2023-09-26" @default.
- W4200220110 title "DO FMR1 MUTATIONS IMPACT ANEUPLOIDY RATES IN EMBRYOS?" @default.
- W4200220110 doi "https://doi.org/10.1016/j.fertnstert.2021.07.1030" @default.
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