The genetic basis of preimplantation embryo arrest is slowly being unraveled. Recent discoveries point to maternally expressed proteins required for cellular functions before the embryonic genome is activated. In this issue of the JCI, Wang, Miyamoto, et al. suggest a critical role for karyopherin-mediated protein cargo transport between oocyte cytoplasm and nucleus. Defective maternal oocyte-expressed human karyopherin subunit α7 (KPNA7) and mouse KPNA2 fail to bind a critical substrate, ribosomal L1 domain-containing protein 1 (RSL1D1), affecting its transport to the nucleus. As shown in embryos of Kpna2-null females, the consequences are disrupted zygotic genome activation and arrest of development. These findings have important implications for diagnosis and treatment of female infertility.
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http://dx.doi.org/10.1172/JCI166279 | DOI Listing |
Reprod Fertil Dev
January 2025
Fertility & Research Centre, Discipline of Women health, School of Clinical Medicine and the Royal Hospital for Women, University of New South Wales, Sydney, NSW, Australia.
Pre-implantation genetic testing for aneuploidy (PGT-A) via embryo biopsy helps in embryo selection by assessing embryo ploidy. However, clinical practice needs to consider the invasive nature of embryo biopsy, potential mosaicism, and inaccurate representation of the entire embryo. This creates a significant clinical need for improved diagnostic practices that do not harm embryos or raise treatment costs.
View Article and Find Full Text PDFJBRA Assist Reprod
January 2025
Reproductive Endocrine and Infertility Medicine Department. Women's Specialized Hospital, King Fahad Medical City, Riyadh Second Health Cluster, Saudi Arabia.
Objective: To compare the clinical outcomes, including pregnancy rate, live birth rate, and miscarriage rate between vaginal progesterone Cyclogest suppository and Crinone vaginal progesterone gel as LPS in frozen-thawed embryo transfer in Intra-Cytoplasmic Sperm Injection (ICSI) cycles.
Methods: In this comparative retrospective chart review, 283 women who had frozen-thawed embryo transfer were assessed. The patients were divided into two groups based on the route of progesterone administration used as LPS.
BMC Pregnancy Childbirth
January 2025
Assisted Reproduction Center, Northwest Women's and Children's Hospital, No. 73 Houzai Gate, Xincheng District, Xi'an, 710003, Shaanxi province, People's Republic of China.
Background: Up to now, a number of studies have explored the influence of blastocyst biopsy on maternal and neonatal outcomes, and the results have been somewhat inconsistent. Therefore, the aim of this study was to investigate whether blastocyst biopsy is associated with an elevated risk of hypertensive disorders of pregnancy (HDP) and other adverse perinatal outcomes during frozen embryo transfer (FET) cycles in singleton live births resulting from intracytoplasmic sperm injection (ICSI) in women aged ≤ 35 years.
Methods: A total of 1,008 women were involved in this study from January 2020 to June 2022, who underwent ICSI cycles and received single FET, leading to the birth of a live singleton newborn.
J Assist Reprod Genet
January 2025
Medical Genetics & Genomics Unit, AULSS8 Berica, Vicenza, Italy.
This document aims to provide good practice recommendations in order to support maternal-foetal medicine specialists, clinical geneticists and clinical laboratory geneticists in the management of pregnancies obtained after the transfer of an embryo tested with preimplantation genetic testing (PGT). It was drafted by geneticists expert in preimplantation genetics and prenatal genetic diagnosis belonging to the "Working Group in Cytogenomics, Prenatal and Reproductive Genetics" of the "Italian Society of Human Genetics" (SIGU). In particular, the paper addresses the diagnostic algorithm to be applied in prenatal follow-up depending on the type of PGT performed, the results obtained and the related diagnostic value based on the most recent literature data and Italian and international recommendations.
View Article and Find Full Text PDFBiol Reprod
January 2025
Department of Animal Sciences, University of Florida, Gainesville, FL 32611-0910, USA.
Optimal embryonic development depends upon cell-signaling molecules released by the maternal reproductive tract called embryokines. Identity of specific embryokines that enhance competence of the embryo for sustained survival is largely lacking. The current objective was to evaluate effects of three putative embryokines in cattle on embryonic development to the blastocyst stage.
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