Purpose The aim of this study was to evaluate the incidence of an inter-chromosomal effect (ICE) in blastocyst-stage embryos from carriers of balanced chromosome inversions. Methods Infertility patients (n = 52) with balanced inversions (n = 66 cycles), and maternal age-matched controls that concurrently cycled (n = 66), consented to an IVF cycle with preimplantation genetic testing for aneuploidy (PGT-A). Blastocyst-stage embryos underwent trophectoderm biopsy for PGT-A with only euploid blastocysts transferred in a subsequent frozen embryo transfer. Subtypes of inversions were included in aggregate: paracentric/pericentric, polymorphic/non-polymorphic, male/female carriers, and varying inversion sizes. Results The incidence of aneuploidy was not significantly higher for the inversion patients compared to the controls (inversion = 48.8% vs. control = 47.2% ns). Following euploid blastocyst transfer, there were excellent live birth outcomes. Conclusions Carriers of balanced chromosome inversions did not exhibit higher aneuploidy rates for chromosomes that were not involved in the inversion compared to maternal age-matched controls, signifying the absence of an inter-chromosomal effect for this data set. These results provide the largest investigation of blastocyst embryos regarding the debated existence of an ICE resulting from the presence of an inversion during meiosis. However, further studies are warranted to investigate an ICE among inversions subtypes that were outside the scope of this study.
settings (56%). The majority of respondents (76%) routinely recommended ECS to patients. Eighty five percent of respondents believed that all patients should be offered ECS, ideally prior to pregnancy. ECS knowledge base was not influenced by provider age or years from training. Compared to providers in an academic setting, providers in the private setting were more likely to know the correct technology used for ECS (82.6% vs. 61.1%, p¼0.12) and the number of diseases screened (91.3% vs. 66.7%, p¼0.04). Compared to generalists, subspecialists were also more likely to answer these questions correctly (81.8% vs. 70%, p¼0.44; 100% vs. 76.7%, p¼0.07). The top 3 concerns limiting the use of ECS were time spent on counseling patients about results (56%), financial burden to patients (54%), and time spent on following up on patient results (44%). If both a patient and her partner screened positive, 61% would refer to a genetic counselor (GC), while 24% would refer to a reproductive endocrinologist. CONCLUSIONS: Many OB/GYNs are knowledgeable about the benefits and limitations of ECS and routinely offer ECS to patients. However, this study demonstrates a need for additional resources to ensure that concerns and knowledge gaps are appropriately addressed, and highlights a critical role for GCs as physician educators. ECS has the potential to prevent transmission of deleterious mutations to the next generation, provided that OB/ GYNs, GCs, and sub-specialists are engaged in this effort.
To assess the effect of repetitive transvaginal ovarian needle punctures as compared to laparoscopic ovarian drilling on antral follicle counts (AFC), serum antimulerian hormone levels (AMH) and pregnancy rates in anovulatory women with PCOS.DESIGN: A six month cohort study was undertaken to compare outcomes in PCOS women who underwent transvaginal ultrasound guided ovarian injury using a 16 gauge oocyte collection needle and PCOS women with laparoscopic ovarian drilling (dithermy, 8 punctures). Couples with significant sperm abnormalities were excluded.MATERIALS AND METHODS: 126 anovulatory subjects, 67 with ovarian injury (OI) due to a trans-vaginal in-vitro maturation collection (which failed to result in pregnancy) and 59 who underwent laparoscopic ovarian drilling (LOD) were compared. Primary outcome was spontaneous pregnancy rate. In addition body mass index (BMI), AFC and AMH levels were measured pre intervention and at the 3rd and 6th months. Both groups received no further treatments. Shapiro Wilk's test was used for assessing normal distribution. Chi-squared, T tests or Mann Whitney U test were used. Data is presented as meanAESD or median (range).RESULTS: Pretreatment, median serum total testosterone level were higher in the OI than the LOD groups(P¼0.001), other hormone levels were similar. BMI at time 0, 3 and 6 months did not differ between the two interventions. However, serum AMH levels were lower at time 0, 3 months and 6 months (p<0.001) in the LOD when compared to the OI group. At 3 and 6 months AMH levels decreased more significantly in the LOD than the OI group (-26.4% (-41.5 to -5.5) vs. -12.5% (-26.3 to -0.9), p<0.001)) and (-29.2% (-55.6 to -3.5) vs. -12.6% (-28.7 to 1.86), p<0.001)), respectively. % decrease in AFC was also greater in the LOD group than the OI subjects at 3 months (-24% (-37 to -8) vs. -12% (-56 to 0) , p<0.001) and at 6 months (-27% (-44 to-4) vs. -5% (-29 to 9), p<0.001). However cumulative pregnancy rates at 6 months were similar LOD (35%) vs OI (55%) (P>0.05).CONCLUSIONS: Although, ultrasound guided transvaginal ovarian needle injury results in less significant improvements in AMH and AFC levels in anovulatory PCOS women than does LOD, pregnancy rates trended higher with this OI. This suggests a less invasive method of ovarian injury may be available than laparoscopy for patients requiring this mechanism to conceive.
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