Search

Study question Influence of sperm selector separation of sperms on their translocation load, segregation pattern, motility and occurrence of interchromosomal effects Summary answer Sperm selector separation led to reduction of the translocation load, shift in segregation pattern and lower rates of interchromosomal effects within sperm samples What is known already Balanced translocations in men are known to be one of the main causes of reproductive failure. The segregation pattern in sperms is determined by the distribution of the chromosomes during meiosis. Interchromosomal effects can also influence the distribution of chromosomes that are not involved in the translocation. The sperm selector used consists of two concentric chambers, which are overlaid by a U-ring and a cover glass. Motile sperms migrate from the native ejaculate in the medium filled inner chamber by using a capillary bridge created by the U-ring. This avoids potential harmful centrifugation and allows accumulation of motile sperms. Study design, size, duration Twenty-one carriers of balanced translocations participated in the study. In addition, 15 patients were involved as control. All participants signed an informed consent (F–8–15). Samples of three patients did not meet the internal quality criteria and had to be excluded from analysis. The study started in 2015 and is still ongoing. Participants/materials, setting, methods Liquefied native ejaculate was processed with a sperm selector. Native ejaculate, non-migrated sperms from the outer chamber and migrated sperms from the inner chamber were transferred onto glass slides, fixed and underwent a decondensation treatment. For segregation analysis FISH translocation specific FISH probe mixes were used and tested on patient’s blood. Interchromosomal effects were analysed with FISH probes for the chromosomes X, Y, 18 and 13, 21. Evaluation was done manually using fluorescence microscopy. Main results and the role of chance Segregation analysis was done for more than 25,000 sperms from men carrying a balanced translocation (18 patients with reciprocal and 3 patients with Robertsonian translocation). Separation via sperm selector led to a reduction in translocation load (native to separated approach 49,1±11,5% to 34,8±9,4% (P = Limitations, reasons for caution The number of accumulated strandbreak-free sperms depended on the motility and sperm count of the native ejaculate. Examinations are not reproducible, as each sample delivery is influenced by external circumstances Wider implications of the findings: Sperm selector separation can be used before ART to reduce the translocation load and rate of maldistribution in sperms from carriers of balanced translocations. This could have a considerable impact on PGT results after trophectoderm biops. Trial registration number Not applicable

Mehr als in anderen Fachgebieten gehoren angeborene Erkrankungen zum Alltag des Facharztes fur Kinder- und Jugendmedizin. Die zunehmende Verfugbarkeit der Next Generation Sequencing-Methoden in den letzten 5 Jahren zeigt, dass die meisten dieser Erkrankungen genetischen bzw. monogenen Ursprungs sind, und eroffnet ungeahnte Moglichkeiten, aber auch Herausforderungen in Diagnostik und Therapie. Dieser Beitrag bietet einen Uberblick uber die Bedeutung genetischer Erkrankungen in der Padiatrie, erlautert die Moglichkeiten, aber auch Limitationen moderner genetischer Diagnostik wie der Exomsequenzierung und ihre Auswirkungen auf die tagliche Patientenversorgung.

Introduction Sexually transmitted infections (STIs) continue to be a significant public health problem with a high burden in women of reproductive age. Rates of Chlamydia trachomatis , Neisseria gonorrhoeae and Trichomonas vaginalis are frequently tested for and rates of infection are generally high in African settings, but the prevalence of other genital STIs is largely unknown. The aim of this study was to determine the prevalence of genital mycoplasmas ( Mycoplasma genitalium , M. hominis , Ureaplasma parvum and U. urealyticum ) in women visiting the infertility clinic of a tertiary academic hospital in South Africa. Methods In this pilot evaluation self-collected vaginal swabs were obtained from 51 women visiting the infertility clinic. The genomic DNA was extracted from the swabs using the ZR Fungal/Bacterial DNA Miniprep (Thermo Scientific, USA) and analysed using the Anyplex II STI-7 (Seegene, Korea) real-time PCR assay for the simultaneous detection and identification of seven STIs including the four mycoplasma species. Results The real-time PCR assay detected the following genital mycoplasmas and co-infections in the 51 women: U. parvum [55% (28/51)], M. hominis [20% (10/51)] and U. urealyticum [16% (8/51)]; none of the specimens tested positive for M. genitalium . Among the nine patients where mixed infections were observed, M. hominis and Ureaplasma spp. were frequently detected together [67% (6/9)]. In addition to the mycoplasmas, one woman tested positive for C. trachomatis; N. gonorrhoeae and T. vaginalis were not detected. Conclusion This pilot study demonstrated an unexpectedly high rate of genital mycoplasma infections among women visiting an infertility clinic. The burden of genital mycoplasma infection is largely unknown and warrants further investigation, in particular with regards to the prevalence and clinical significance in different population groups. Support: Anyplex II STI-7 kits provided by Seegene, Korea