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Background Balanced insertional translocations (BITs) can increase the risk of infertility, recurrent miscarriages or neonatal birth defects due to chromosomal imbalances in gametes. However, studies on preimplantation genetic testing (PGT) for patients carrying BITs are inadequate. Methods A preimplantation genetic genotyping and haplotype analysis approach was developed and implemented in this study. Genome-wide SNP genotyping was performed, followed by core family-based haplotype analysis. The balanced insertion segments in euploid embryos were inferred from the haplotypes inherited from the carrier parent. Results A total of 10 BIT carrier couples were enrolled in our study. 15 in vitro fertilisation cycles were conducted, resulting in 73 blastocysts biopsied and subjected to PGT analysis. Among these, 20 blastocysts displayed rearrangement-related imbalances, 13 exhibited de novo aneuploidies, 15 presented a complex anomaly involving both imbalances and additional aneuploidies, while 25 were euploid. Within the euploid embryos, 12 were balanced carrier embryos and 13 were non-carrier embryos. To date, eight non-carrier and one carrier embryos have been transferred, resulting in seven clinical pregnancies. All pregnancies were recommended to perform prenatal diagnosis, our date revealed complete concordance between fetal genetic testing results and PGT results. Presently, five infants have been born from these pregnancies, and two pregnancies are still ongoing. Conclusion The proposed method facilitates comprehensive chromosome screening and the concurrent identification of balanced insertions or normal karyotypes in embryos. This study offers an effective and universally applicable strategy for BIT carriers to achieve a healthy pregnancy and prevent the transmission of BITs to their offspring. [ABSTRACT FROM AUTHOR]

Introduction and Hypothesis: The high recurrence rate (up to 40%) of native tissue surgery for pelvic organ prolapse (POP) is concerning and a better understanding of the effect of surgery is essential in optimizing treatment. As physical examination (Pelvic Organ Prolapse-Quantification, POP-Q) underestimates the degree of prolapse, upright assessment may provide new insights. Therefore, we compared supine POP-Q with upright magnetic resonance imaging (MRI) examination of the anatomical effect of native tissue POP surgery on the pelvic anatomy., Methods: This prospective study included 59 women with stage ≥ 2 anterior compartment prolapse undergoing solely anterior colporrhaphy (AC) or in combination with posterior colporrhaphy (PC), sacrospinous hysteropexy (SSH) or Manchester Fothergill (MF). Preoperatively and 6 weeks postoperatively, anatomical measurements were obtained: POP-Q and upright MRI. The Patient Global Impression of Improvement (PGI-I) questionnaire was completed 6 weeks postoperatively., Results: Significant lift of the lowest point of the bladder was observed on both POP-Q (37 ± 18 mm) and upright MRI (26 ± 22 mm), which was 10 ± 17 mm (p < 0.001) larger on POP-Q than on upright MRI. Symptomatic improvement (PGI-I) was reported by 93.2% of the patients, which showed a weak correlation with the bladder lift on upright MRI (Spearman's ρ -0.301, p = 0.021), but no correlation with the bladder lift on POP-Q (Spearman's ρ -0.078, p = 0.565)., Conclusions: The POP-Q examination overestimates the anatomical result of native tissue POP repair on the anterior vaginal wall by 1 cm compared with upright MRI examination upon 6 weeks' follow-up. Upright MRI examination is suggested to relate better to symptomatic outcome than does POP-Q examination., Competing Interests: Declarations. Ethical Approval: The medical ethics committee “Commissie Mensgebonden Onderzoek Arnhem-Nijmegen” and the institution’s board of directors approved this “Twents Onderzoek naar Recidieven na Bekkenbodem Operaties” (TORBO) study, reference number NL79717.091.21. Conflicts of Interest: None., (© 2024. The International Urogynecological Association.)