Understanding fertility in young and old: Fertility in humans follows a U-curve, with low rates in both teenagers and women of advancing maternal age (mid-30s and above). Gruhn et al. found that this distinct shape originates from chromosomal errors in human eggs, which result in genomic imbalance and pregnancy loss. The error types and chromosomes affected in the young and advanced age groups were different, suggesting that two distinct chromosome-based mechanisms balance risk associated with pregnancy and evolutionary fitness as women enter and exit their reproductive life span. The authors show that chromosome structure erodes only with advancing age, acting as a “molecular clock” for reproductive senescence. Science , this issue p. 1466

Aims: The purpose of this prospective study was to describe the incidence and distribution pattern of human papillomavirus (HPV) DNA in intraoperative dissected lymph nodes and to relate this to the pathological confirmation of metastasis. Methods: Samples of primary cervical cancer lesions and dissected lymph nodes were obtained from women undergoing surgical treatment. The presence of HPV DNA was detected by the polymerase chain reaction. Results: Tissue from 79 tumours and 365 lymph nodes was analysed. Metastasis to the lymph nodes was found in 19 cases. Metastasis correlated with the volume of the primary lesion, the depth of cervical and vaginal invasion, and with invasion of the corpus. HPV DNA was found in 60 of the primary lesions and 31 of the lymph nodes. The presence of HPV DNA in the lymph nodes correlated with the volume of the primary lesion and vaginal invasion. Conclusions: The incidence of HPV DNA in lymph nodes is twice as high as that of histopathologically confirmed metastases. The risk of the presence of HPV DNA and histopathologically confirmed metastases in lymph nodes is related to certain features of the primary tumour.

Preimplantation Genetic Diagnosis (PGD) used in assisted reproduction techniques is designed to provide help for couples trying to conceive a child, as it helps deliver healthy offspring. After in vitro fertilization, material is collected from the oocyte (polar body), 3-day-old embryo, or increasingly often, from the trophectoderm of a blastocyst. Selection of the diagnostic method depends on the testing center, but methods such as aCGH (Comparative Genomic Hybridization Array) and NGS (Next-Generation Sequencing) are supposed to have the highest reliability and precision. This paper presents a review of the most important methods used in PGD, their advantages and disadvantages as well as efficacy in the procedures in which they are used. Preimplantation Genetic Diagnosis (PGD) used in assisted reproduction techniques is designed to provide help for couples trying to conceive a child, as it helps deliver healthy offspring. After in vitro fertilization, material is collected from the oocyte (polar body), 3-day-old embryo, or increasingly often, from the trophectoderm of a blastocyst. Selection of the diagnostic method depends on the testing center, but methods such as aCGH (Comparative Genomic Hybridization Array) and NGS (Next-Generation Sequencing) are supposed to have the highest reliability and precision. This paper presents a review of the most important methods used in PGD, their advantages and disadvantages as well as efficacy in the procedures in which they are used.

Most of the current preimplantation genetic screening of aneuploidies tests are based on the low quality and low density comparative genomic hybridization arrays. The results are based on fewer than 2,700 probes. Our main outcome was the association of aneuploidy rates and the women's age. Between August-December 2013, 198 blastocysts from women (mean age 36.3+-4.6) undergoing in vitro fertilization underwent routine trophectoderm biopsy. NGS was performed on Ion Torrent PGM (Life Technologies). The results were analyzed in five age groups (40). 85 blastocysts were normal according to NGS results. The results in the investigated groups were (% of normal blastocyst in each group): 40 (38.5%). Our study suggests that NGS PGD is applicable for routine preimplantation genetic testing. It allows also for easy customization of the procedure for each individual patient making personalized diagnostics a reality.

Background: Sperm tail morphology and motility have been demonstrated to be important factors in determining sperm quality for in vitro fertilization. However, many existing computer-aided sperm analysis systems leave the sperm tail out of the analysis, as detecting a few tail pixels is challenging. Moreover, some publicly available datasets for classifying morphological defects contain images limited only to the sperm head. This study focuses on the segmentation of full sperm, which consists of the head and tail parts, and appear alone and in groups. Methods: We re-purpose the Feature Pyramid Network to ensemble an input image with multiple masks from state-of-the-art segmentation algorithms using a scale-specific cross-attention module. We normalize homogeneous backgrounds for improved training. The low field depth of microscopes blurs the images, easily confusing human raters in discerning minuscule sperm from large backgrounds. We thus propose evaluation protocols for scoring segmentation models trained on imbalanced data and noisy ground truth. Results: The neural ensembling of noisy segmentation masks outperforms all single, state-of-the-art segmentation algorithms in full sperm segmentation. Human raters agree more on the head than tail masks. The algorithms also segment the head better than the tail. Conclusions: The extensive evaluation of state-of-the-art segmentation algorithms shows that full sperm segmentation is challenging. We release the SegSperm dataset of images from Intracytoplasmic Sperm Injection procedures to spur further progress on full sperm segmentation with noisy and imbalanced ground truth. The dataset is publicly available at https://doi.org/10.34808/6wm7-1159.

FISH should be regarded as an optimal preimplantation genetic diagnosis method for specific RCP and RT translocation carriers to increase the chance of successful IVF procedure.