Skip to main content Accessibility help
×
Hostname: page-component-76fb5796d-2lccl Total loading time: 0 Render date: 2024-04-29T05:06:06.227Z Has data issue: false hasContentIssue false

Chapter 2 - The Patient Evaluation of the Future: Genetics, New Diagnostics, and Prediction Modeling

Published online by Cambridge University Press:  02 March 2020

Alice D. Domar
Affiliation:
Boston IVF, Waltham, MA
Denny Sakkas
Affiliation:
Boston IVF, Waltham, MA
Thomas L. Toth
Affiliation:
Boston IVF, Waltham, MA
Get access

Summary

Genetic risk is defined as the probability of a person (or couple) conceiving a pregnancy with genetic mutations or chromosomal abnormalities that would lead to a severe pathological condition. Genetic mutations are concealed in the genome of almost every person. Most of these mutations are harmless in single copy, but if present in homozygosis, they can lead to severe clinical outcomes. Often, couples carrying unidentified genetic mutations become aware of their dangerous mutations only after conception of an affected child.

Type
Chapter
Information
Patient-Centered Assisted Reproduction
How to Integrate Exceptional Care with Cutting-Edge Technology
, pp. 11 - 22
Publisher: Cambridge University Press
Print publication year: 2020

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Kumar, P, Radhakrishnan, J, Chowdhary, MA, Giampietro, PF. Prevalence and Patterns of Presentation of Genetic Disorders in a Pediatric Emergency Department. Mayo Clin Proc. 2018; 76(8): 777–83.Google Scholar
Capalbo, A, Hoffmann, ER, Cimadomo, D, Maria Ubaldi, F, Rienzi, L. Human Female Meiosis Revised: New Insights into the Mechanisms of Chromosome Segregation and Aneuploidies from Advanced Genomics and Time-Lapse Imaging. Hum Reprod Update. 2017; 23(6): 706–22.CrossRefGoogle ScholarPubMed
Haque, IS, Lazarin, GA, Kang, HP, Evans, EA, Goldberg, JD, Wapner, RJ. Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening. JAMA. 2016; 316(7): 734.Google Scholar
Grody, WW, Thompson, BH, Gregg, AR, Bean, LH, Monaghan, KG, Schneider, A, et al. ACMG Position Statement on Prenatal/Preconception Expanded Carrier Screening. Genet Med. 2018; 15(6): 482–3.Google Scholar
Burke, W. Genetic Tests: Clinical Validity and Clinical Utility. Curr Protoc Hum Genet. 2014; 81(9.15): 18.Google Scholar
Hogan, GJ, Vysotskaia, VS, Beauchamp, KA, Seisenberger, S, Grauman, PV, Haas, KR, et al. Validation of an Expanded Carrier Screen That Optimizes Sensitivity Via Full-Exon Sequencing and Panel-Wide Copy Number Variant Identification. Clin Chem. 2018; 64(7): 1063–73.CrossRefGoogle ScholarPubMed
Ruíz-Alonso, M, Blesa, D, Díaz-Gimeno, P, Gómez, E, Fernández-Sánchez, M, Carranza, F, et al. The Endometrial Receptivity Array for Diagnosis and Personalized Embryo Transfer As a Treatment for Patients with Repeated Implantation Failure. Fertil Steril. 2013; 100(3): 818–24.Google Scholar
Coutifaris, C, Myers, ER, Guzick, DS, Diamond, MP, Carson, SA, Legro, RS, et al. Histological Dating of Timed Endometrial Biopsy Tissue Is Not Related to Fertility Status. Fertil Steril. 2004; 82(5): 1264–72.Google Scholar
Aghajanova, L, Hamilton, AE, Giudice, LC. Uterine Receptivity to Human Embryonic Implantation: Histology, Biomarkers, and Transcriptomics. Semin Cell Dev Biol. 2018; 19(2): 204–11.Google Scholar
Díaz-Gimeno, P, Ruíz-Alonso, M, Blesa, D, Simón, C. Transcriptomics of the Human Endometrium. Int J Dev Biol. 2014; 58(2–3–4): 127–37.CrossRefGoogle ScholarPubMed
Díaz-Gimeno, P, Horcajadas, JA, Martínez-Conejero, JA, Esteban, FJ, Alamá, P, Pellicer, A, et al. A Genomic Diagnostic Tool for Human Endometrial Receptivity Based on the Transcriptomic Signature. Fertil Steril. 2011; 95(1): 5060.Google Scholar
Hashimoto, T, Koizumi, M, Doshida, M, Toya, M, Sagara, E, Oka, N, et al. Efficacy of the Endometrial Receptivity Array for Repeated Implantation Failure in Japan: A Retrospective, Two-Centers Study. Reprod Med Biol. 2017; 16(3): 290–6.CrossRefGoogle ScholarPubMed
Tan, J, Kan, A, Hitkari, J, Taylor, B, Tallon, N, Warraich, G, et al. The Role of the Endometrial Receptivity Array (Era) in Patients Who Have Failed Euploid Embryo Transfers. J Assist Reprod Genet. 2018; 35(4): 683–92.Google Scholar
Clemente-Ciscar, M, Ruíz-Alonso, M, Blesa, D, Jimenez-Almazan, J, Al, E. Endometrial Receptivity Analysis (ERA) Using a Next Generation Sequencing (NGS) Predictor Improves Reproductive Outcome in Recurrent Implantation Failure. In: Abstracts of the 34rd Annual Meeting of the European Society of Human Reproduction and Embryology. 2018.Google Scholar
Friedman, J, Hastie, T, Tibshirani, R. The Elements of Statistical Learning. New York: Springer Series in Statistics. 2001.Google Scholar
Franasiak, JM, Forman, EJ, Hong, KH, Werner, MD, Upham, KM, Treff, NR, et al. Aneuploidy Across Individual Chromosomes at the Embryonic Level in Trophectoderm Biopsies: Changes with Patient Age and Chromosome Structure. J Assist Reprod Genet. 2018; 31(11): 1501–9.Google Scholar
Rodrigo, L, Mateu, E, Mercader, A, Cobo, AC, Peinado, V, Milán, M, et al. New Tools for Embryo Selection: Comprehensive Chromosome Screening by Array Comparative Genomic Hybridization. Biomed Res Int. 2014; 2014: 517125.Google Scholar
Alfarawati, S, Fragouli, E, Colls, P, Stevens, J, Gutiérrez-Mateo, C, Schoolcraft, WB, et al. The Relationship Between Blastocyst Morphology, Chromosomal Abnormality, and Embryo Gender. Fertil Steril. 2011; 95(2): 520–4.Google Scholar
Tobler, KJ, Zhao, Y, Ross, R, Benner, AT, Xu, X, Du, L, et al. Blastocoel Fluid from Differentiated Blastocysts Harbors Embryonic Genomic Material Capable of a Whole-Genome Deoxyribonucleic Acid Amplification and Comprehensive Chromosome Microarray Analysis. Fertil Steril. 2015; 104(2): 418–25.Google Scholar
Gianaroli, L, Magli, MC, Pomante, A, Crivello, AM, Cafueri, G, Valerio, M, et al. Blastocentesis: A Source of DNA for Preimplantation Genetic Testing. Results from a Pilot Study. Fertil Steril. 2018; 102(6): 1692–9.e6.Google Scholar
Shamonki, MI, Jin, H, Haimowitz, Z, Liu, L. Proof of Concept: Preimplantation Genetic Screening Without Embryo Biopsy through Analysis of Cell-Free DNA in Spent Embryo Culture Media. Fertil Steril. 2016; 106(6): 1312–18.Google Scholar
Xu, J, Fang, R, Chen, L, Chen, D, Xiao, J-P, Yang, W, et al. Noninvasive Chromosome Screening of Human Embryos by Genome Sequencing of Embryo Culture Medium for in Vitro Fertilization. Proc Natl Acad Sci USA. 2016; 113(42): 11907–12.Google Scholar
Feichtinger, M, Vaccari, E, Carli, L, Wallner, E, Mädel, U, Figl, K, et al. Non-Invasive Preimplantation Genetic Screening Using Array Comparative Genomic Hybridization on Spent Culture Media: A Proof-of-Concept Pilot Study. Reprod Biomed Online. 2017; 34(6): 583–9.Google Scholar
Vera-Rodriguez, M, Rubio, C. Assessing the True Incidence of Mosaicism in Preimplantation Embryos. Fertil Steril. 2017; 107(5): 1107–12.CrossRefGoogle ScholarPubMed
Ho, JR, Arrach, N, Rhodes-Long, K, Ahmady, A, Ingles, S, Chung, K, et al. Pushing the Limits of Detection: Investigation of Cell-Free DNA for Aneuploidy Screening in Embryos. Fertil Steril. 2018; 110(3): 467–475.e2.CrossRefGoogle ScholarPubMed
Kuznyetsov, V, Madjunkova, S, Antes, R, Abramov, R, Motamedi, G, Ibarrientos, Z, et al. Evaluation of a Novel Non-Invasive Preimplantation Genetic Screening Approach. PLoS One. 2018; 13(5): e0197262.CrossRefGoogle ScholarPubMed
Rubio, C, Rienzi, L, Navarro-Sánchez, L, Cimadomo, D, García-Pascual, C, Soscia, D, et al. Origin of False Positives and False Negatives in Non-Invasive Preimplantation Genetic Testing for Aneuploidies. In: ASRM Denver; Fertil Steril. 2018.Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×