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Genomics Precision Diagnostic > Prenatal > Embryo Developmental Arrest Precision Panel

Embryo Developmental Arrest Precision Panel

Embryo Developmental Arrest (EDA) is one of the mechanisms responsible for an increased level of embryo demise during the first week of in vitro development. Around 10-15% embryos permanently arrest in mitosis at the 2-to 4-cell cleavage stage.
Overview
Indication
Clinical Utility
Genes & Diseases
Methodology
References

Overview

  • Embryo Developmental Arrest (EDA) is one of the mechanisms responsible for an increased level of embryo demise during the first week of in vitro development. Around 10-15% embryos permanently arrest in mitosis at the 2-to 4-cell cleavage stage. It involves the downregulation and/or cessation of cell division and metabolic activity of the components involved in the formation and development of an embryo. Chromosomal abnormalities, abnormal preimplantation development and single gene disorders have been stated as causes of EDA and therefore, a known cause of infertility. The identification of abnormal gene changes previously known to have an effect on embryo development is crucial to improve pregnancy outcomes.  

  • The Igenomix Embryo Developmental Arrest Precision Panel can be used to make a directed and accurate differential diagnosis of inability to carry out a full pregnancy ultimately leading to a better management and achieve a healthy baby at home. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.  

Indication

  • The Igenomix Embryo Development Arrest Precision Panel is indicated for those patients with clinical suspicion of infertility presenting with the following manifestations: 
    • Inability to conceive after 1 year of unprotected intercourse  
    • Family history of infertility  
    • Personal or family history of recurrent miscarriages  
    • Previous failed IVF cycles 
    • Other failed assisted reproductive technology (ART) treatments 

Clinical Utility

The clinical utility of this panel is: 

  • The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.  
  • Early initiation of treatment with a multidisciplinary team for an initial consultation, workup and assisted reproductive technologies (ART). 
  • Risk assessment of asymptomatic family members according to the mode of inheritance. 

Genes & Diseases

Methodology

References

See scientific referrals

Murphy, B. (2020). Under Arrest: The Embryo in Diapause. Developmental Cell, 52(2), 139-140. doi: 10.1016/j.devcel.2020.01.002 

Levy, R. R., Cordonier, H., Czyba, J. C., & Guerin, J. F. (2001). Apoptosis in preimplantation mammalian embryo and genetics. Italian journal of anatomy and embryology = Archivio italiano di anatomia ed embriologia, 106(2 Suppl 2), 101–108. 

Mohebi, M., & Ghafouri-Fard, S. (2019). Embryo developmental arrest: Review of genetic factors and pathways. Gene Reports, 17, 100479. doi: 10.1016/j.genrep.2019.100479 

Zhang, X., Stojkovic, P., Przyborski, S., Cooke, M., Armstrong, L., Lako, M., & Stojkovic, M. (2006). Derivation of Human Embryonic Stem Cells from Developing and Arrested Embryos. Stem Cells, 24(12), 2669-2676. doi: 10.1634/stemcells.2006-0377 

Sha, Q. Q., Zheng, W., Wu, Y. W., Li, S., Guo, L., Zhang, S., Lin, G., Ou, X. H., & Fan, H. Y. (2020). Dynamics and clinical relevance of maternal mRNA clearance during the oocyte-to-embryo transition in humans. Nature communications, 11(1), 4917. https://doi.org/10.1038/s41467-020-18680-6 

Zhang, Y., Feng, Y., & Ma, F. (2020). Yi chuan = Hereditas, 42(10), 1004–1016. https://doi.org/10.16288/j.yczz.20-144 

Feng, R., Yan, Z., Li, B., Yu, M., Sang, Q., Tian, G., Xu, Y., Chen, B., Qu, R., Sun, Z., Sun, X., Jin, L., He, L., Kuang, Y., Cowan, N. J., & Wang, L. (2016). Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos. Journal of medical genetics, 53(10), 662–671. https://doi.org/10.1136/jmedgenet-2016-103891 

Xu, Y., Shi, Y., Fu, J., Yu, M., Feng, R., & Sang, Q. et al. (2016). Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest. The American Journal Of Human Genetics, 99(3), 744-752. doi: 10.1016/j.ajhg.2016.06.024 

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  • Patient Journey
    • Before Pregnancy
    • IVF Process
    • Healthy pregnancy
    • After birth
  • Reproductive Health
    • Specialists
      • ERA
      • ERA insight Hub
      • ALICE
      • EMMA
      • EndomeTRIO
      • Infertility Panels
      • EMBRACE
      • PGT-A
      • PGT-A Plus
      • PGT-M
      • PGT-SR
      • CGT
      • NACE
      • Zenit
      • POC Portfolio
      • SAT
      • Newborn Screening
  • Diagnostics
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